Two sisters save their brother by donating a part of the liver and a kidney in a child from Ethiopia, requiring a combined liver-kidney transplant
Mukhtar Ahmed Ali Gadkarim, a 13 year old boy from Sudan was brought to Indraprastha Apollo Hospital, Delhi with end stage renal failure. He had been passing stones in his urine since the age of 7 and had damaged both his kidneys requiring hemodialysis thrice a week for a year. He was in complete renal shutdown with no urine output for 12 hours and generalised swelling of the body due to fluid retention. He was hypertensive, his kidney tests were deranged with a serum creatinine of 5 mg/dl (normal 0.3-1.2 mg/dl) and ultrasound of the abdomen revealed bilaterally calcified kidneys.
He was detected to have very high oxalate levels in his blood and bone marrow leading to the diagnosis of a very rare genetic disorder, primary hyperoxaluria. This has a prevalence of only 1 to 3 per million and results due to a biochemical defect in the liver. A deficient liver enzyme leads to excessive production of oxalate that complexes with calcium to form calcium oxalate crystals which accumulate in the kidneys, bone, heart and other organs. Earlier, a definitive diagnosis required documenting the deficient enzyme in liver tissue by obtaining a liver biopsy. But with the availability of genetic studies, we can isolate the aberrant gene by gene sequencing, thus avoiding a liver biopsy. He tested positive for the AGXT gene that causes primary hyperoxaluria, thus confirming the diagnosis.
Dialysis is inadequate treatment for these patients as it cannot overcome the ongoing oxalate production. A kidney transplant alone doesn’t suffice as the oxalates will reaccumulate and damage the new kidney as well. Cure occurs only if the deficient host liver is replaced with a liver that has the deficient enzyme, thus necessitating a combined kidney and liver transplant.
Mukhtar was given multiple sessions of haemodialysis over a month and a half to deplete oxalate from the body before transplant. Fortunately, he did not have cardiac damage and was in a position to withstand the formidable surgery. His story is a glorious tale of human courage, bonds and sacrifice. His twin sisters aged 27 years were the donors, one for the kidney and another for the liver. One of the sisters is a doctor and played a crucial role in mentally preparing the family for the transplant.
A team comprising of liver and renal transplant surgeons with expert anaesthetists performed the surgery that lasted nearly 12 hours, with the liver being transplanted first followed by the kidney. Mukhtar’s recovery was dramatic and he was off the ventilator within 24 hours. His renal parameters improved, his urine now did not show any oxalate crystals and he was discharged in 3 weeks’ time. Both his sisters also recovered well and the jubilant family returned to their native country with a new lease of life, overwhelmed with gratitude towards our country, our doctors, modern medicine and divine grace.
|The Clinical Perspective Arriving at a diagnosis was the first challenge. Increased oxalate excretion in the urine is the usual first line test but Mukhtar wasn’t producing any urine at all. Oxalate crystals were detected in the eyes and genetic tests sent were confirmatory. That he had twin sisters was a blessing. He needed two donors, one each for the liver and the kidney. It was a huge help both for the family and the transplant team that one of them was a doctor herself. On a follow up of 4 years, he has remained well with no significant post transplant complications.|