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Scenario 1 – Part 1
W1S1:
A 29-year-old male track athlete who agreed to participate in a bone density pilot study using DEXA investigating bone density in track athletes, presented for screening. Unfortunately, his DEXA revealed a T-score of -1.6, and -1.8 at lumbar spine and femur neck, respectively. The study investigator sent him to his primary care physician (PCP) for further evaluation.
The PCP ordered some investigations which are shown in table 1
|
Test |
Value |
|
S. Creatinine |
1.9 mg/dL |
|
Hgb |
11.3 g/dL |
|
Corrected S.Calcium |
9.7 mg/dL |
|
S. Phosphorus |
4.5 mg/dL |
|
S. Potassium |
4.5 mmol/L |
The PCP discussed these labs with him and arranged for him to go to the nephrology clinic for further evaluation. This discussion seemed to upset the patient who had recently lost his father who had been on dialysis for kidney failure since his 60s.
After being seen at the nephrology clinic, he was referred for further investigations. Other blood tests were also taken. Abdominal ultrasound scan was performed and revealed multiple grossly enlarged cysts in both kidneys with some flecks of calcification.
A. Interpret the above investigations.
B. What is the most likely diagnosis of this patient?
C. What other investigations would you recommend for this patient?
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64 Comments
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this man has CKD early stage (IIIa) mostly secondary to ADPKD, he has mild anemia and within normal other parameters. the US and positive family history are consistent with ADPKD
the patient has osteopenia
– I recommend further assessment of CKD- MBD profile including ca, po4, vit D, iPTH
Beside iron study, MRA Angio if family history of brain hge -
interpretation of the results:
this man has CKD early stage (IIIa) mostly secondary to ADPKD, he has mild anemia and within normal other parameters. the US and positive family history are consistent with ADPKD
the patient has osteopenia
– I recommend further assessment of CKD- MBD profile including ca, po4, vit D, iPTH
Beside iron study, MRA Angio if family history of brain hge
-
this man has CKD early stage (IIIa) mostly secondary to ADPKD, he has mild anemia and within normal other parameters. the US and positive family history are consistent with ADPKD
the patient has osteopenia
– I recommend further assessment of CKD- MBD profile including ca, po4, vit D, iPTH
Beside iron study, MRA Angio if family history of brain hge -
Although serum creatinine can be higher than the normal population in athletes, still this is high for these patients. This patient has multiple cysts most probably compatible with ADPKD (US findings+ family history). C/P/PTH is needed to further evaluate ckd along with other panels regarding CKD like anaemia panel urine tests etc.
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thank you for the case
29y old athelete male accidentally discoverred to have osteopenia according to his dexa scan (t-score -1 to -2.5) family history his father was ESRF patient on diaysis,
no past or drug history of medical significance
pt has renal impairment with calculated GFR representing him in stage 3A (ckd EPI 48 ml/min/1.73sqm)
as pt over 21 with multiple cystes bilateral most probable diagnoses adult polycystic kidney disease AR, theres type 1 or 2
Examin the patient rule out HTN, rule out ny other systemic disease
investigation needed stepwise according to further finding
to prove diagnoses Genetic study if available, family counselling
type 1 or 2 associated with other diseases , associated with other syndromes or not
need renal profile, urine analysis,
Albumen, total protein
cbc, iron profile
ESR, CRP inflam markers
PTH, bone specific alkaline phosphatase, corrected Ca, P
need MRI on brain for aneurysm especially if hypertensive
on abdomen for total kidney volume but mostly not donelastly 29y male with osteopenia and ckd i may proceed to other steps if clinically or labratory directed me protein electropheresis Testosterone, FSH, Prolactin
thank u -
Thank you for your fruitful contributions. Here are the model answers by the program’s scientific board.
A: Interpret the above investigations.
The patient has CKD stage IIIA according to CKD EPI 2021 equation. There are no other lab abnormalities except for anemia.B: What is the most likely diagnosis of this patient?
Osteopenia, as defined by the World Health Organization (WHO), is a t-score between -1 to -2.5.
The patient has a positive family history of kidney disease and his abdominal ultrasound is suggestive of ADPKD. ADPKD results from a mutation in either PKD1, which encodes polycystin 1, or PKD2, which encodes polycystin 2. Polycystins are expressed in multiple tissues and cell types including osteoblasts and osteocytes. Several animal studies have shown that disruption of PKd1 or PKd 2 expression in bone results in abnormal bone development and morphology, reduced bone mineral density, cortical thickness, and osteopenia (1).C: What other investigations would you recommend for this patient?
PTH, 25-OH vitamin D and thyroid profile should be assessed as possible causes of osteopenia.References:
1. Gitomer B, Pereira R, Salusky IB, Stoneback JW, Isakova T, Cai X, et al. Mineral bone disease in autosomal dominant polycystic kidney disease. Kidney international. 2021;99(4):977-85. -
A. Interpret the above investigations.
Acase of CKD with osteopenia
B. What is the most likely diagnosis of this patient?
For CKD , Mostly due to ADPKD , but also better to search for other cases
esp in presence of some calcified cysts .
for osteopenia may be a part of CKD-MBD or may be due to other cause like
Vit D deficiencyC. What other investigations would you recommend for this patient?
PTH , bone specific alkaline phosphatase .
Vit D
Genetic Study .
-
A. Interpret the above investigations.
The patient, has severe osteoporosis.
S.creatinine levels are high.
potassium level is normal. Phosphorus is normal, calcium is normal, and hgb is 11.3.
B. What is the most likely diagnosis of this patient?
Diagnosis: family history (his father died after being on dialysis for kidney disease since his 60s) and the ultrasound showed (multiple enlarged cysts in both kidneys with some flecks of calcification)
ADPKD , CKD??
C. What other investigations would you recommend for this patient?
Renal ultrasonography should be included in their investigation. Urea , PTH
\sBUN \sABG for acidosis \Urinalysis for albuminuria / uric acid / albumin / ferritin / TIBC /iron / TSAT/ CRP / alkaline phosphatase / vit D/ sMG/ lipid profile and cardiac Echo/ serology (HIV, HBV ,HCV) , LFT/ random sugar with HBA1C , Thyroid function test -
CKD IIIa (48 ml/min/1.7 m2) is likely in the setting of PKD with early CKD-MBD as a consequence of CKD.
DXA keeps with osteopenia with evidence of early SHPT (evidenced by restored normal calcium and corrected phosphate and calcified cysts).
The WHO classification may be used in males aged ≥50 years and older. In males below age, 50 years with low BMD (Z-score ≤-2.0), osteoporosis diagnoses if there is a history of a fragility fracture and, possibly, if other risk factors for osteoporosis (such as glucocorticoid therapy, hypogonadism, or hyperparathyroidism). In younger males, as with premenopausal females, Z-scores (not T-scores) should be used, and a clinical diagnosis of osteoporosis should not be made in males under age 50 based on BMD alone.
Investigations:
*Evaluation of albuminuria
*Evaluation of anaemia
*Evaluation of metabolic bone disease and low bone mass, including:
-Vit D, iPTH, Mg, and alkaline phosphatase as the initial assessment
-We may consider doing serum testosterone, LH, FSH…etc. if SHPT has not explained his osteopenia.
*Check for acidosis
*Evaluation of cardiovascular risk factors: lipid profile and cardiac Echo
*Virology screening ± hepatitis B vaccination
*PKD : liver u/s, LFTs ± brain scan
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A case of male patient with accidentally discovered renal impairment(mostly CKD), osteopenia(on dexa scan), anemia with normal serum ca,phosphorus and potassium.
Owing to the positive family history (lost his father who had been on dialysis for kidney failure since his 60s) and ultrasound finding(multiple grossly enlarged cysts in both kidneys with some flecks of calcification)
The most likely diagnosis is ADPKD
Other investigations:
1-To asses anaemia: full abc,(RC, coombs, LDH, blood films if it is normocystic normochromic anaemia). serum iron, ferritin, TIBC.
2- serum PTH,alkaline phosphatase and serum vitamin D.
3- urine analysis to asses presence of active urinary sediment and to exclude infection of the cysts –urine culture
4- in case of associated active urinary sediment, must do the nephritic screen
5-MRI and Mra brain to exclude aneurysm (if associated headache)
6-Abdominal imaging(MRI) to exclude liver or pancreatic cyst
7-Gentic testing
8- Echo to exclude valvular heart disease -
A – A case of osteopenia (as seen in DEXA scan) , first discovered renal impairment with mild anemia and normal values of potassium , phosphorus and calcium in addition to multiple cystic lesions in both kidneys as proved in ultrasound.
B- regarding his father affection, it is mostly a case of ADPKD .
C-1- urine analysis and culture if needed
2-full iron profile for anemia
3-MRI abdomen for better evaluation of cystic lesions to exclude hge or infection
4-MRA and MRV brain to exclude aneurysms (not neccessary if not symptomatic)
5-Genetic testing
6-Vit D assay and PTH
7-plasma protein electrophoresis and Bence Jones proteins in urine to exclude M.M -
our patient has chronic kidney disease 2ry to cystic kidney disease most likely autosomal poycystic kidney disease, we should review us of the father to confirm the diagnosis, other members of the family should be screened for renal cysts, especially if they are older than 30 years. the presence of anemia in cystic disease is uncommon, and represents poor prognostic sign.anemia work up should be intiated including ferritin, transferritin saturation, vit B12 and folic acid. the patient has osteopenia as
T score > -2.5, 25 OH vit D level, PTH, and baseline alkaline phosphatase should be ordered -
A-
ckd stage 3 eGfr by ckd -epi 47
anemia for work up
DEXAscan show osteopenia
phos. At upper limit mostly due Renal OD
B-
ckd stage 3 ,anemia for work up, Renal .OD due ADPCKDc-
anemia work up iron ferritin TIBS and TsAT,b12 and folic
ckd — urine analysis And protein 24 hours electrolyte and co2
ROD —-iPTH albumin vit d 1,25 and 25 SBAP and FGF23
genral work up ECG chest xray -
A. Interpret the above investigations.
This patient is a young athlete who is never complained but was accidentally found to have osteopenia in DEXAscan
according to his lab, he has CKD eGFR of 42 ml/mint CKD stage 3 ,his father is dialysis-dependent, and the finding of multiple bilateral renal cysts in this age denotes autosomal dominant APKD .So we need to have a look at his MBD profile, including PTH and FGF23
According to his age and according to the KIDIGO guideline, this patient is anaemic and needs full anaemia to work up, including a full iron profile.
He will need genetic testing as well -
1*his investigation show DXA osteopenia, with ckd stage 3 and mild anemia
The s. Phosphorous upper limit of normal need further investigation to confirm MBD
2*as he has grossly bilateral large cysts and he lost his father due to renal failure so the dx Autosomal dominant polycystic kidney disease
3* need 25(OH)vitamin D, 1,25 vitamin D, PTH, s. Alkaline phosphotase
S. Iron, s. Ferritin, TIBC
Urinalysis -
A:
The above DEXA score show that the patient had osteopenia, and he lost 10-20% of his bone density.
The patient had CKDS3 according to eGFR 47 by CKD-EPI
Although the S.Ca and P seem to be within normal level , but he had underline early CKD-MBD, as CKD complication and as well as mild anemia.
B:
The patient had a CKD as a result of APKD, a familial disease as mostly his father suffer from same disease.
Early stage of SHPT, and renal osteodystrophy
C:
Base line investigation:- Investigation to establish a diagnosis:
- S.Cr, Urea.
- Kidney US.
- Random glucose and HBA1C.
2.Investigation for complication of CKD-MBD:
- S.ALP.
- iPTH.
- Serum vit D level.
3.Hematinic workup:
- S.iron.
- S.ferrittin.
- S.iron.
- TIBC.
- S folic caid.
- S. B12.
-
1-young male with elevated creatinine level with HB level more above 10 . Acceptable electrolytes levels
Dexa scan most likely showed osteopenia2-most likely CKD stage 3 due to autosomal dominant polycystic kidney disease with family history and US finding
3- needs iron study ferritin and TIBC
, vitamin D ,PTH and Alkaline phosphatase
urinanalysis
genetic testing .
no need for brain MRI since he is not in high risk job and he will not go for surgery -
Interpret the above investigations.
Young male patient with anemia, and CKD stage 3 causing CKD-MBD- osteopeniaWhat is the most likely diagnosis of this patient?
In view of personal history of CKD and FMHx of ESRD in father, and based on US abdomen result, ADPKD is the most probable diagnosis.What other investigations would your receommend for this patient?
Bone profile: Ca corr, Ph, Mg, BsALP, vit D
BTMs: CTX, and P1NP
Anemia work up: iron, ferritin
Evaluation of other causes of CKD: MM work up, virology, immunology and vasculitis work up.Young athlete with osteopenia: will investigate for functional hypothalamic hypogonadism, with checking FSH, LH, and testosterone level.
Evaluate for other causes of osteopenia in young male patient: RF, celiac work up, ODST, 24 hrs urine Ca, Na.For the brain AVM component of ADPKD- order either MRA or CT angiogram.
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Hi dr Asmaa.
Bone turnover markers(BTMs) like procollagen type-1 N-terminal propeptide (P1NP) is marker of osteoblast activity.
While C-terminal telopeptides of type I collagen (CTX) is marker of osteoclast function.
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-
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A. Interpret the above investigations.
DEXA scan reveal osteopenia or low bone mass
Renal function reveal CKD stage 3
Anemia due to CKD
P at its upper normal level , indicating start of accumulation of p .B. What is the most likely diagnosis of this patient?
ADPKD with CKD and CKD-MBD.C. What other investigations would you recommend for this patient?
Ca , P, 25(oH)vitamin D3, 1,25(oH)D3, iPTH, bone specific Alkaline phosphatase ,
CBC , S.iron , TIBC , s. Ferritin, serum Uric acid
Urinalysis , ACR , genetic study for polycystin mutation.
ECG and ECHO study
Abdominal MRI for TKV
Brain MRI for any subarachnoid hg or positive family history of sudden death. -
interpretation the investigation
- CKD stage 3A.
- DEXA scan revealed osteopenia.
- ANEMIA due to CKD.
DIAGNOSIS
Autosomal Dominant Polycystic Kidney Disease.OTHER INVESTIGATION
ca, p
Vitamin D .
S.IRON-FERRITIN-TSAT%
Urine analysis
liver function test.
ECG and Echocardiogram
Uric acid
medical counselling. -
A-This gentleman has a serum creatinine of 1.9, which puts him in CKD stage 3A, he is obviously anemic for an athlete at his age, probably because of his CKD. His serum phosphate level is at the upper normal, so he may already started accumulating phosphate.
B-Autosomal Dominant Polycystic Kidney Disease
C-
iPTH
Alkaline Phosphatase (Bone specific if available)
FGF23 (if available)
CBC with differentials
Iron studies
vit B12 and Folate
CT scan brain (Angio) -
- DEXA scan revealed osteopenia, eGFR 48ml/min/1.73m2 CKD3a, Anemia
- According to history and lab findings, the abdominal ultrasound of the patient all are consistent with APKD
- Other investigations: PTH, ca, albumin, vitamin D, iron study, LFTs, urinalysis, Head CT
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A- dexa scan show oesteo penia ,serum creatinine 1.9 , hb 11.3
Anemia as regards to age and sex finally us showing multiple cysts and calcifications mostly adult poly cystic kidney disease
B-The most likely diagnosis adult polycystic kidney disease with secondary hyperparathyroidism and anemia of chronic kidney disease.
C- serum ipth ,vit d level ,serum iorn ,tsat serum alkaline phosphatase and bone specific alkaline phosphatase -
A. Patient has most likely ADPKD with MBD(osteopenia) , anemia and CKD3a. The calcium phosphate hemostasis is balanced.
B. ADPKD , renal Anemia. Osteopenia most likely because of Vit D deficiency and may be high PTH or FGF23.
C.PTH, Vitamin D 25OH and 1,25OHVitaminD, AP, immunfixation , serum electrophoresis, iron study
24h Urin for proteinuria
Urin stick , sediments? -
A) pt. is ckd G2 gfr =78ml\min
B )-most likely diagnosis APKD
C. ) other investigation recommended
CA — PI —PTH — ALP– VIT D -
A. Provide an explanation for the previous investigations.
The result of this young man’s DEXA scan is between -1 and -2.5, which may indicate osteopenia.
It is consistent that he has CKD-3G-A, given that his eGFR is 48 ml/min/1.73 m2.
He has a normal HB and normal electrolytes.What is the diagnostic that is most likely to apply to this patient?
The patient has multiple enlarged cysts, we need more data about the number of cysts on each side. A positive family history of ESRD will raise the diagnosis of ADPKD as one of the DD. For confirmation, we need a genetic study.According to the findings of the laboratory and the ultrasound, the patient has CKD-3G-a, CKD-MBD, and osteopenia.
What further diagnostic procedures would you suggest this individual undergo?
iPTH, Ca, and Pi; 25-Vit D level Tests; and BSAP.
Iron profile
Urinalysis
MRI of the abdomen to evaluate TKV. -
Patient has picture of osteopenia based on dexa scan , ckd stage 3 based oneGFR , anaemia , needs detailed history , for full lab works for his anaemia , urine tests and for A/C ratio , PTH , TSH , CT scan abd for total kidney volume , cardiology assisment , genetic testing and isotop scaning sestamibi scan , regullar follow up in nephrology clinics
-
INTERPRETATION:
- DEXA: which is in keeping with Osteopenia
- RENAL FUNCTION: Stage 3 Chronic Kidney Disease
- Lowish HB
DIAGNOSIS:
- ADPKD – CKD-MBD Stage 3
INVESTIGATIONS:
- Intact PTH
- Vitamin D -level
- Iron Studies (depending on result further investigation might be required)
- Urine dipsticks, U-PCR/ACR
- Bone specific ALP (not routinely done in South Africa)
- ECG and Echocardiogram
- Uric acid
- MRI of kidneys
- Routine follow-up as per KDIGO guidelines
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A. Interpret the above investigations.
- This young man DEXA scan is between -1 and -2.5 suggesting low bone mass or osteopenia.
- His eGFR= 48.6 ml/min/1.73 m2 is consistent with CKD-3G
- He hasd low normal HB, and normal electrolyes.
B. What is the most likely diagnosis of this patient?
- In the veiw of history, the laboratory and U/S finding ,the full diagnosis is ADPKD, CKD-3G, CKD-MBD ,osteopenia of the lumber spine & femur neck
C.What other investigations would you recommend for this patient?
- iPTH
- Bone specific alkaline phosphatase (BSAP)
- Serum ferritin
- % Transferrin saturation
- Vit D level
- Urinanalysis for haematuria ,albuminuria
- uACR
- Repeat iPTH, Ca, Pi every 6 to 12 months (KDIGO 2017)
- MRI abdomen to assess TKV
- Cardiac assessents ; mosty of these patients are hypertensive and therefore base line ECG/Echo may be important
- Not routine in practice: but is good if available and for research purposes
1. FGF-23
2. Sclerostin
3.Activin A
4.Genetic screening for ADPKD -
A. Interpret the above investigations.
- this pt. has ADPKD with moderate renal impairment, CKD stage III, with CKD-BMD, as osteopenia on DEXA scan.
B. What is the most likely diagnosis of this patient?
- Autosomal dominant polycystic kidney disease.
C. What other investigations would you recommend for this patient?
- Lab. tests including urine analysis, uric acid, 25 hydroxy vit. D, PTH, bone-specific alkaline phosphatase, and iron studies as serum iron, TIBC, and ferritin. Genetic test may be considered for the specific polycystin mutation.
- Radiological tests as ECHO. Brain MRA will be needed if there is a family history of berry aneurysm, subarachnoid hemorrhage or sudden death.
-
very good and conclusive answer dr Ibrahim.
Do you think that the cause of his CKD may has a role in this bone abnormality?
-
ADPKD with lower osteoid volume .
CKD due to ADPKD .
ADPKD pt has lower Alk ph and decreased bone formation.
investigation:
alk ph , Ca, P,PTH,25 (OH)cholecalciferol , -
This patient has ckd dt ADPKD (positive family hx of kidney problem, normal Hb with reduced GFR and US
Osteopenia
??calcified cyst
I would like to ordered 25 (oH)D3,bone specific alkaline phosphatase,PTH,serum bicarbonate
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this man has CKD early stage (IIIa) mostly secondary to ADPKD, he has mild anemia and within normal other parameters. the US and positive family history are consistent with ADPKD
the patient has osteopenia
– I recommend further assessment of CKD- MBD profile including ca, po4, vit D, iPTH
Beside iron study, MRA Angio if family history of brain hge
interpretation of the results:
this man has CKD early stage (IIIa) mostly secondary to ADPKD, he has mild anemia and within normal other parameters. the US and positive family history are consistent with ADPKD
the patient has osteopenia
– I recommend further assessment of CKD- MBD profile including ca, po4, vit D, iPTH
Beside iron study, MRA Angio if family history of brain hge
this man has CKD early stage (IIIa) mostly secondary to ADPKD, he has mild anemia and within normal other parameters. the US and positive family history are consistent with ADPKD
the patient has osteopenia
– I recommend further assessment of CKD- MBD profile including ca, po4, vit D, iPTH
Beside iron study, MRA Angio if family history of brain hge
nnkd
High serum creatinine and low hemoglobin suggesting anemia.
CKD stage 2
Serum PTH level,vitamin D level,serum iron and transferrin saturation.
Although serum creatinine can be higher than the normal population in athletes, still this is high for these patients. This patient has multiple cysts most probably compatible with ADPKD (US findings+ family history). C/P/PTH is needed to further evaluate ckd along with other panels regarding CKD like anaemia panel urine tests etc.
ckd with osteopenia
apkd pkd 1 mutation
pth,vitamin d and genetic studies?
thank you for the case
29y old athelete male accidentally discoverred to have osteopenia according to his dexa scan (t-score -1 to -2.5) family history his father was ESRF patient on diaysis,
no past or drug history of medical significance
pt has renal impairment with calculated GFR representing him in stage 3A (ckd EPI 48 ml/min/1.73sqm)
as pt over 21 with multiple cystes bilateral most probable diagnoses adult polycystic kidney disease AR, theres type 1 or 2
Examin the patient rule out HTN, rule out ny other systemic disease
investigation needed stepwise according to further finding
to prove diagnoses Genetic study if available, family counselling
type 1 or 2 associated with other diseases , associated with other syndromes or not
need renal profile, urine analysis,
Albumen, total protein
cbc, iron profile
ESR, CRP inflam markers
PTH, bone specific alkaline phosphatase, corrected Ca, P
need MRI on brain for aneurysm especially if hypertensive
on abdomen for total kidney volume but mostly not done
lastly 29y male with osteopenia and ckd i may proceed to other steps if clinically or labratory directed me protein electropheresis Testosterone, FSH, Prolactin
thank u
Thank you for your fruitful contributions. Here are the model answers by the program’s scientific board.
A: Interpret the above investigations.
The patient has CKD stage IIIA according to CKD EPI 2021 equation. There are no other lab abnormalities except for anemia.
B: What is the most likely diagnosis of this patient?
Osteopenia, as defined by the World Health Organization (WHO), is a t-score between -1 to -2.5.
The patient has a positive family history of kidney disease and his abdominal ultrasound is suggestive of ADPKD. ADPKD results from a mutation in either PKD1, which encodes polycystin 1, or PKD2, which encodes polycystin 2. Polycystins are expressed in multiple tissues and cell types including osteoblasts and osteocytes. Several animal studies have shown that disruption of PKd1 or PKd 2 expression in bone results in abnormal bone development and morphology, reduced bone mineral density, cortical thickness, and osteopenia (1).
C: What other investigations would you recommend for this patient?
PTH, 25-OH vitamin D and thyroid profile should be assessed as possible causes of osteopenia.
References:
1. Gitomer B, Pereira R, Salusky IB, Stoneback JW, Isakova T, Cai X, et al. Mineral bone disease in autosomal dominant polycystic kidney disease. Kidney international. 2021;99(4):977-85.
Goodmorning. Can we get excess to the aforementioned article please?
A. Interpret the above investigations.
Acase of CKD with osteopenia
B. What is the most likely diagnosis of this patient?
For CKD , Mostly due to ADPKD , but also better to search for other cases
esp in presence of some calcified cysts .
for osteopenia may be a part of CKD-MBD or may be due to other cause like
Vit D deficiency
C. What other investigations would you recommend for this patient?
PTH , bone specific alkaline phosphatase .
Vit D
Genetic Study .
A-case of CKD stage 3with osteopenia, mild anemia
B-ADPKD
C-urine analysis, Iron profile, PTH ,V.D assay ,alkaline phosphatase
A. Interpret the above investigations.
The patient, has severe osteoporosis.
S.creatinine levels are high.
potassium level is normal. Phosphorus is normal, calcium is normal, and hgb is 11.3.
B. What is the most likely diagnosis of this patient?
Diagnosis: family history (his father died after being on dialysis for kidney disease since his 60s) and the ultrasound showed (multiple enlarged cysts in both kidneys with some flecks of calcification)
ADPKD , CKD??
C. What other investigations would you recommend for this patient?
Renal ultrasonography should be included in their investigation. Urea , PTH
\sBUN \sABG for acidosis \Urinalysis for albuminuria / uric acid / albumin / ferritin / TIBC /iron / TSAT/ CRP / alkaline phosphatase / vit D/ sMG/ lipid profile and cardiac Echo/ serology (HIV, HBV ,HCV) , LFT/ random sugar with HBA1C , Thyroid function test
this patient Dexa show severe osteoporosis.
S.creatinine is elevated.
potassium normal . phosphorus normal , corrected calcium normal
hgb 11.3 anemia.
diagnosis: CKD?
other investigation should incluce .. renal ultrasound .. PTH
BUN
ABG
Urinalysis
CKD IIIa (48 ml/min/1.7 m2) is likely in the setting of PKD with early CKD-MBD as a consequence of CKD.
DXA keeps with osteopenia with evidence of early SHPT (evidenced by restored normal calcium and corrected phosphate and calcified cysts).
The WHO classification may be used in males aged ≥50 years and older. In males below age, 50 years with low BMD (Z-score ≤-2.0), osteoporosis diagnoses if there is a history of a fragility fracture and, possibly, if other risk factors for osteoporosis (such as glucocorticoid therapy, hypogonadism, or hyperparathyroidism). In younger males, as with premenopausal females, Z-scores (not T-scores) should be used, and a clinical diagnosis of osteoporosis should not be made in males under age 50 based on BMD alone.
Investigations:
*Evaluation of albuminuria
*Evaluation of anaemia
*Evaluation of metabolic bone disease and low bone mass, including:
-Vit D, iPTH, Mg, and alkaline phosphatase as the initial assessment
-We may consider doing serum testosterone, LH, FSH…etc. if SHPT has not explained his osteopenia.
*Check for acidosis
*Evaluation of cardiovascular risk factors: lipid profile and cardiac Echo
*Virology screening ± hepatitis B vaccination
*PKD : liver u/s, LFTs ± brain scan
I agree but I think scanning patients is recommended as routine for crania aneurysms in this group
-DEXA shows osteopenia
-CKD3
-early CKD-MBD
-mild anemia.
———
ADPKD, ckd
Early SHPT and renal osteodystrophy
———
investigation for diagnosis:
S.Cr, Urea.
Kidney US.
S.ALP.
iPTH.
Serum vit D level.
S.iron.
S.ferrittin.
TIBC.
S folic caid.
S. B12.
A case of male patient with accidentally discovered renal impairment(mostly CKD), osteopenia(on dexa scan), anemia with normal serum ca,phosphorus and potassium.
Owing to the positive family history (lost his father who had been on dialysis for kidney failure since his 60s) and ultrasound finding(multiple grossly enlarged cysts in both kidneys with some flecks of calcification)
The most likely diagnosis is ADPKD
Other investigations:
1-To asses anaemia: full abc,(RC, coombs, LDH, blood films if it is normocystic normochromic anaemia). serum iron, ferritin, TIBC.
2- serum PTH,alkaline phosphatase and serum vitamin D.
3- urine analysis to asses presence of active urinary sediment and to exclude infection of the cysts –urine culture
4- in case of associated active urinary sediment, must do the nephritic screen
5-MRI and Mra brain to exclude aneurysm (if associated headache)
6-Abdominal imaging(MRI) to exclude liver or pancreatic cyst
7-Gentic testing
8- Echo to exclude valvular heart disease
A – A case of osteopenia (as seen in DEXA scan) , first discovered renal impairment with mild anemia and normal values of potassium , phosphorus and calcium in addition to multiple cystic lesions in both kidneys as proved in ultrasound.
B- regarding his father affection, it is mostly a case of ADPKD .
C-1- urine analysis and culture if needed
2-full iron profile for anemia
3-MRI abdomen for better evaluation of cystic lesions to exclude hge or infection
4-MRA and MRV brain to exclude aneurysms (not neccessary if not symptomatic)
5-Genetic testing
6-Vit D assay and PTH
7-plasma protein electrophoresis and Bence Jones proteins in urine to exclude M.M
our patient has chronic kidney disease 2ry to cystic kidney disease most likely autosomal poycystic kidney disease, we should review us of the father to confirm the diagnosis, other members of the family should be screened for renal cysts, especially if they are older than 30 years. the presence of anemia in cystic disease is uncommon, and represents poor prognostic sign.anemia work up should be intiated including ferritin, transferritin saturation, vit B12 and folic acid. the patient has osteopenia as
T score > -2.5, 25 OH vit D level, PTH, and baseline alkaline phosphatase should be ordered
A-
ckd stage 3 eGfr by ckd -epi 47
anemia for work up
DEXAscan show osteopenia
phos. At upper limit mostly due Renal OD
B-
ckd stage 3 ,anemia for work up, Renal .OD due ADPCKD
c-
anemia work up iron ferritin TIBS and TsAT,b12 and folic
ckd — urine analysis And protein 24 hours electrolyte and co2
ROD —-iPTH albumin vit d 1,25 and 25 SBAP and FGF23
genral work up ECG chest xray
A. Interpret the above investigations.
This patient is a young athlete who is never complained but was accidentally found to have osteopenia in DEXAscan
according to his lab, he has CKD eGFR of 42 ml/mint CKD stage 3 ,his father is dialysis-dependent, and the finding of multiple bilateral renal cysts in this age denotes autosomal dominant APKD .
So we need to have a look at his MBD profile, including PTH and FGF23
According to his age and according to the KIDIGO guideline, this patient is anaemic and needs full anaemia to work up, including a full iron profile.
He will need genetic testing as well
1*his investigation show DXA osteopenia, with ckd stage 3 and mild anemia
The s. Phosphorous upper limit of normal need further investigation to confirm MBD
2*as he has grossly bilateral large cysts and he lost his father due to renal failure so the dx Autosomal dominant polycystic kidney disease
3* need 25(OH)vitamin D, 1,25 vitamin D, PTH, s. Alkaline phosphotase
S. Iron, s. Ferritin, TIBC
Urinalysis
Thank you dr Israa
A:
The above DEXA score show that the patient had osteopenia, and he lost 10-20% of his bone density.
The patient had CKDS3 according to eGFR 47 by CKD-EPI
Although the S.Ca and P seem to be within normal level , but he had underline early CKD-MBD, as CKD complication and as well as mild anemia.
B:
The patient had a CKD as a result of APKD, a familial disease as mostly his father suffer from same disease.
Early stage of SHPT, and renal osteodystrophy
C:
Base line investigation:
2.Investigation for complication of CKD-MBD:
3.Hematinic workup:
Excellent dr Kamal.
1-young male with elevated creatinine level with HB level more above 10 . Acceptable electrolytes levels
Dexa scan most likely showed osteopenia
2-most likely CKD stage 3 due to autosomal dominant polycystic kidney disease with family history and US finding
3- needs iron study ferritin and TIBC
, vitamin D ,PTH and Alkaline phosphatase
urinanalysis
genetic testing .
no need for brain MRI since he is not in high risk job and he will not go for surgery
Very good dr Areij
Interpret the above investigations.
Young male patient with anemia, and CKD stage 3 causing CKD-MBD- osteopenia
What is the most likely diagnosis of this patient?
In view of personal history of CKD and FMHx of ESRD in father, and based on US abdomen result, ADPKD is the most probable diagnosis.
What other investigations would your receommend for this patient?
Bone profile: Ca corr, Ph, Mg, BsALP, vit D
BTMs: CTX, and P1NP
Anemia work up: iron, ferritin
Evaluation of other causes of CKD: MM work up, virology, immunology and vasculitis work up.
Young athlete with osteopenia: will investigate for functional hypothalamic hypogonadism, with checking FSH, LH, and testosterone level.
Evaluate for other causes of osteopenia in young male patient: RF, celiac work up, ODST, 24 hrs urine Ca, Na.
For the brain AVM component of ADPKD- order either MRA or CT angiogram.
Dear Dr Asmaa can you explain these appreviations?
BTMs: CTX, and P1NP
Best Regard
Hi dr Asmaa.
Bone turnover markers(BTMs) like procollagen type-1 N-terminal propeptide (P1NP) is marker of osteoblast activity.
While C-terminal telopeptides of type I collagen (CTX) is marker of osteoclast function.
Thank you very much
Excellent dr Asma.
I would like to ask you if you routinly order CTX or P1NP.
Yes, I normally do it for all my osteoporosis, and CKD-MBD patients.
For ESRD on HD patients, I order only P1NP, as CTX is excreted by kidneys, and no point to do it in such patients.
Our reference labs is Mayo Clinic. Samples are going weekly to Mayo Clinic Rochester.
A. Interpret the above investigations.
DEXA scan reveal osteopenia or low bone mass
Renal function reveal CKD stage 3
Anemia due to CKD
P at its upper normal level , indicating start of accumulation of p .
B. What is the most likely diagnosis of this patient?
ADPKD with CKD and CKD-MBD.
C. What other investigations would you recommend for this patient?
Ca , P, 25(oH)vitamin D3, 1,25(oH)D3, iPTH, bone specific Alkaline phosphatase ,
CBC , S.iron , TIBC , s. Ferritin, serum Uric acid
Urinalysis , ACR , genetic study for polycystin mutation.
ECG and ECHO study
Abdominal MRI for TKV
Brain MRI for any subarachnoid hg or positive family history of sudden death.
interpretation the investigation
DIAGNOSIS
Autosomal Dominant Polycystic Kidney Disease.
OTHER INVESTIGATION
ca, p
Vitamin D .
S.IRON-FERRITIN-TSAT%
Urine analysis
liver function test.
ECG and Echocardiogram
Uric acid
medical counselling.
Great dr Ashraf.
A-This gentleman has a serum creatinine of 1.9, which puts him in CKD stage 3A, he is obviously anemic for an athlete at his age, probably because of his CKD. His serum phosphate level is at the upper normal, so he may already started accumulating phosphate.
B-Autosomal Dominant Polycystic Kidney Disease
C-
iPTH
Alkaline Phosphatase (Bone specific if available)
FGF23 (if available)
CBC with differentials
Iron studies
vit B12 and Folate
CT scan brain (Angio)
Excellent dr Hassan.
If you please find association between APKD and osteopenia
Great dr Mohammed.
A- dexa scan show oesteo penia ,serum creatinine 1.9 , hb 11.3
Anemia as regards to age and sex finally us showing multiple cysts and calcifications mostly adult poly cystic kidney disease
B-The most likely diagnosis adult polycystic kidney disease with secondary hyperparathyroidism and anemia of chronic kidney disease.
C- serum ipth ,vit d level ,serum iorn ,tsat serum alkaline phosphatase and bone specific alkaline phosphatase
Thanks dr Rabab.
in this part of the case, the patient did not have yet PTH level to consider secondary hyperparathyroidism or the other types of ROD
A. Patient has most likely ADPKD with MBD(osteopenia) , anemia and CKD3a. The calcium phosphate hemostasis is balanced.
B. ADPKD , renal Anemia. Osteopenia most likely because of Vit D deficiency and may be high PTH or FGF23.
C.PTH, Vitamin D 25OH and 1,25OHVitaminD, AP, immunfixation , serum electrophoresis, iron study
24h Urin for proteinuria
Urin stick , sediments?
Thanks dr nour
A) pt. is ckd G2 gfr =78ml\min
B )-most likely diagnosis APKD
C. ) other investigation recommended
CA — PI —PTH — ALP– VIT D
Thank you dr Elsayed.
if you can please explain his bone abnormality.
A. Provide an explanation for the previous investigations.
The result of this young man’s DEXA scan is between -1 and -2.5, which may indicate osteopenia.
It is consistent that he has CKD-3G-A, given that his eGFR is 48 ml/min/1.73 m2.
He has a normal HB and normal electrolytes.
What is the diagnostic that is most likely to apply to this patient?
The patient has multiple enlarged cysts, we need more data about the number of cysts on each side. A positive family history of ESRD will raise the diagnosis of ADPKD as one of the DD. For confirmation, we need a genetic study.
According to the findings of the laboratory and the ultrasound, the patient has CKD-3G-a, CKD-MBD, and osteopenia.
What further diagnostic procedures would you suggest this individual undergo?
iPTH, Ca, and Pi; 25-Vit D level Tests; and BSAP.
Iron profile
Urinalysis
MRI of the abdomen to evaluate TKV.
I would like to thank you very much dr Weam for your explanation.
Patient has picture of osteopenia based on dexa scan , ckd stage 3 based oneGFR , anaemia , needs detailed history , for full lab works for his anaemia , urine tests and for A/C ratio , PTH , TSH , CT scan abd for total kidney volume , cardiology assisment , genetic testing and isotop scaning sestamibi scan , regullar follow up in nephrology clinics
Thank you dr Abdulrahman.
Do you think that the cause of his CKD may contribute to this bone abnormality?
INTERPRETATION:
DIAGNOSIS:
INVESTIGATIONS:
Many thanks dr Riaan.
I would like to add a comment that alkaline phosphatase is very important to help in determining the type of renal osteodystrophy. So it is important to be done routinely beside PTH, calcium and phosphorus.
A. Interpret the above investigations.
B. What is the most likely diagnosis of this patient?
C.What other investigations would you recommend for this patient?
1. FGF-23
2. Sclerostin
3.Activin A
4.Genetic screening for ADPKD
Excellent explanation dr Ben.
Thank you
Thnxs prof
A. Interpret the above investigations.
B. What is the most likely diagnosis of this patient?
C. What other investigations would you recommend for this patient?
very good and conclusive answer dr Ibrahim.
Do you think that the cause of his CKD may has a role in this bone abnormality?
Yes.
there is also a direct effect of ADPKD on bone density as Polycystin is also expressed on Osteoblasts and chondrocytes. therefore ADPKD will contribute to osteoporosis and other abnormalities.
ADPKD with lower osteoid volume .
CKD due to ADPKD .
ADPKD pt has lower Alk ph and decreased bone formation.
investigation:
alk ph , Ca, P,PTH,25 (OH)cholecalciferol ,
Thanks dr Ashraf.
Could you explain please the result of this DEXA scan?
Why do you think that the patient has low alkaline phosphatase?
I agree with you about the next lab investigations needed.
This patient has ckd dt ADPKD (positive family hx of kidney problem, normal Hb with reduced GFR and US
Osteopenia
??calcified cyst
I would like to ordered 25 (oH)D3,bone specific alkaline phosphatase,PTH,serum bicarbonate
Great thinking, I agree with your plan.
Thank you dr Emad for your answer.
Do you think that the cause of his CKD may contribute to this bone abnormality?