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
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
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
16.
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
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