This document discusses a case study of a 13-year old Sudanese boy with a history of renal stones and end-stage kidney disease who was diagnosed with Primary Hyperoxaluria Type 1 (PH1) based on genetic testing and biopsy findings showing oxalate crystals. He underwent simultaneous liver-kidney transplantation with his sister as the donor for both organs. Post-transplant, he developed a bile leak that required re-exploration and hepatojejunostomy. A renal biopsy also showed oxalate crystal deposits. The discussion focuses on PH1 as an autosomal recessive disorder caused by liver enzyme deficiency leading to increased oxalate deposition in kidneys and other organs requiring combined liver-kidney transplant

1. Renal Stones - Is liver the culprit?
Presenter:
Shivani Deswal - Apollo Hospital, New Delhi
Moderator:
Panelists:
John Matthai – Pediatric Gastroenterologist,
PSG Inst. of Medl Sciences, Coimbatore
Winita Hardikar – Pediatric Hepatologist,
Royal Children's Hospital, Melbourne, Australia
Kumud Mehta – Pediatric Nephrologist,
Jaslok Hospital, Mumbai
Anupam Sibal – Pediatric Gastroenterologist,
Apollo Hospital, New Delhi

2. Renal stones - is liver the culprit?
Dr Shivani Deswal
Apollo Centre for Advanced Pediatrics

3. 13 year old Sudanese boy presented with
Passage of small stones in urine - 6 years
Generalized swelling and anuria - 12 hours

4. No history of
hematuria / dysuria / UTI
polyuria / polydipsia
flank pain
diarrhea
excessive vitamin intake
bone pains / fractures

5. Diagnosed as ESKD 1 year back
On hemodialysis 3 times a week

6. Non consanguineous marriage
3rd in birth order
2 siblings alive and healthy
No family h/o renal stones

7. On examination
Height 145 cm and weight 29 Kg (BMI-13.8)
Pale
B.P-180/100 mm Hg
Anasarca
No icterus
P/A- liver 2 cm BCM, span-10cm
No e/o encephalopathy

9. Investigations
Urine- Ph-6
calcium oxalates++
pus cells, RBCs nil
24 hr urinary oxalate - 180 mg/24h/1.73 m2
(>100 mg /24 h per 1.73 m2)
Urinary oxalate/creatinine - 51 (<70-82)
Spot calcium/creatinine - 0.12 (<0.2)
24hr urine calcium - 60mg/day (<4mg/kg/day)

10. Blood urea- 70mg/dl
S.creatinine-3.5 mg/dl
GFR- 17 ml/min/1.73 m2
LFT
TSB-0.6 mg/dl
SGOT/SGPT-18/15 IU
ALP-220 IU
INR-1.1
S.PTH - 51.8 pg/ml (11-54 pg/ml)
Vitamin D (25 OH) - 32 ng /ml (10-55 ng/ml)

11. Plasma oxalate level - 81.9 mmol/L (normal <1.8)
Bone Marrow biopsy - oxalate crystals +
Whole-gene sequencing of the AGXT gene s/o
Primary Hyperoxaluria Type 1

12. Hemodialysis done (SLED) 10 hours a day
Antihypertensives
LR Simultaneous Liver - Kidney Transplant

13. Hemodialysis done 12 hours prior to surgery
Kidney Donor - Sister , 27 years , B+ive
Right open donor nephrectomy
Liver Donor - Sister, 27 years, B+ive
Left lobe graft

14. Post transplant
POD 2
Bile leak in drain
Rexploration - Duct to duct anastomosis was
taken down and Hepatoco-jeujonostomy
done
Urine routine - PH-7,RBCs-35-40,Oxalate
crystals 1-2 /hpf

15. Renal biopsy
Pale bluish-white radially arranged laminated crystals
were seen
Interstitium showed fibrosis
Extensive intraluminal and interstitial deposits of oxalate crystals

17. Primary hyperoxaluria type-1 (PH1)
Autosomal recessive disorder
Deficiency of the hepatic enzyme alanine- glyoxylate - aminotransferase
which catalyzes the conversion of glyoxylate to glycine
Increased oxalate from liver, excreted by kidneys
Ca oxalate deposits, stones, nephrocalcinosis, renal failure
Also bones, vessels, heart
Haemodialysis provides insufficient oxalate clearance

18. Calcium oxalate stones

19. Transplantation for primary oxalosis
Preemptive liver transplant
Slowly declining GFR - 40-60 ml/min/1.73 m 2
Optimal timing debatable

20. LK transplant
Simultaneous
Sequential

21. When not to transplant
Severe systemic oxalosis with cardiac disease

22. Indications for Liver transplantation
Normal Liver – extra hepatic disease
Crigler- Najjar Type I
Organic acidemias
Urea cycle defects
Protein C deficiency
Familial hypercholesterolemia

23. LK transplant
Primary hyperoxaluria type 1
Autosomal recessive polycystic kidney disease
Liver disease with an occasional kidney failure
Atypical hemolytic uremic syndrome
Methylmalonic acidemia

24. Learning from each other

25. Take home message