Hyperoxaluria case presentation

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Hyperoxaluria case presentation

  1. 1. UNUSUAL CASES OF RENAL FAILURE WITH CRYSTAL NEPHROPATHY. Kiran Sathe Fellow- Pediatric Nephrology ( IPNA, ISPN ) Bai Jerbai Wadia Hospital For children
  2. 2.  4 months old female child  Oliguric renal failure with convulsions and respiratory distress following acute gastroenteritis  No response to fluid and furosemide challenge  Referred for further care
  3. 3.  IIIrd degree consanguinity  Previous sibling (male) death at 3 mo – convulsions.  4 kg/ 53 cm ,B wt 2.5 kg  Pale,dehydrated,acidotic breathing  No renal lump, rash, chest- clear
  4. 4. Initial Investigations Hb 5.4 TC 12400 plt 3.5 lac Retic count 0.5% BUN 110 creat 7.2 Na/ K/Cl 13/5.2/105 AG 25 pH 7.15 HCo3 6.5  Urine-alb 2+, 60-80 RBC,10-12 PC  FeNa-67.8  Urine alb/creat ratio 7.2  USG- RK-5.1 * 1.5 cm  LK-4.7 * 1.8 cm  nephrocalcinosis  Doppler-N
  5. 5. USG- Nephrocalcinosis
  6. 6. Possible D.Ds:  Drug induced- Furosemide,Vit D  Metabolic causes-  Distal RTA,Bartter’s syndrome,Hyperoxaluria.
  7. 7.  Peritoneal Dialysis instituted for 3 days  Uremia improved  Packed cells transfusion  CAPD- in view of prolonged oliguric renal failure
  8. 8. Renal Biopsy- LM, polarised
  9. 9. Oxalosis, Kidney  Normal glomeruli  All tubules distended with oxalate crystals, few surounded by giant cells  Interstitium- focally fibrotic  Vesseles-unremarkable  IF- negative
  10. 10. Case 2  Dr Kiran Sathe.  Dr Kumud Mehta.  Jaslok Hospital & Research Centre.
  11. 11.  6 yr old muslim girl presented with-  colicky abdominal pain  severe anemia  Edema  Breathlessness  Short Stature Ht 98 cm, wt 14 kg  Firm Hepatosplenomegaly
  12. 12. Family h/o  Consanguinity 3 rd degree  Elder sibling-female  Died at 7 months with renal failure  USG- nephrocalcinosis  H/o cousin- died at 15th day of life with renal failure requiring peritoneal dialysis.
  13. 13.  Chronic Kidney Disease stage 5  (End stage renal disease)  Extensively investigated in infancy in view of significant family h/o  Diagnosed as Hyperoxaluria.
  14. 14. age Hb creat Ca/p/ Alp Hco3 Urine alb Urin e RBC Urine Pus cells Urine Cal/ creat Urine oxala te USG 5 mo 11.5 0.4 9.7/ 4.9/ 342 19 2+ 5-6 5-6 0.9 12 mo 9.8 0.6 8.1/ 2.9/ 543 10.8 2+ 4-5 15-20 neph rocal cinosi s 24 mo 8.5 0.7 17 20- 25 8-10 36mg /d 32 mo 7.1 2.6 7.4/ 6.2/ 217 20 82mg /d neph rocal cinosi s 60 mo 8.0 5.0 21 Normal 24 hr urine oxalate excretion <2 mg/kg <45 mg/1.73 m② 72 mo 7.2 8.7 9.4/ 10.4 21 2+
  15. 15. Family counseled about the poor prognosis and the treatment options. Renal supportive meds Oral Pyridoxine Further deterioration Severe cardiac dysfunction and pulmonary edema.
  16. 16. Primary hyperoxaluria
  17. 17. questions  1. what are the possible clinical presentations for hyperoxaluria and oxalosis?  2.When do we suspect it?  3. organ systems which are affected and the pathogenesis?  4. how do we diagnose it?  5.Treatment options available?  6.Ideal time to consider-  Liver transplant  Combined kidney- liver transplant

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