Primary hyperoxaluria type 1 in children: the first successful experience of combined liver and kidney transplantation. A review and clinical cases

Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder caused by defects in the AGXT gene that encodes the hepatic peroxisomal enzyme alanine glyoxylate aminotransferase (AGT), which leads to increased production of oxalates. PH1 is characterized by the development of nephrocalcinosis/urolithiasis with rapid progression to end-stage renal disease (ESRD) in childhood. Combined liver-kidney transplantation (CLKT) is one of the methods to save the life of a patient with PH1 and ESRD, and/or significantly improve his quality of life. CLKT is a rarely performed complex surgical intervention in children (no more than 30 operations in the world per year). It includes the simultaneous transplantation of a part or whole of the liver and kidney from one donor to one recipient. The paper presents clinical cases of 2 children from the same family with an identical homozygous mutation in the AGXT gene (NM_000030.2: c.1 -? _ 358+? Del in exons 1_2 encoding the NP_000021.1: EX1_EX2del protein). The phenotypic manifestations of the disease were different: in an older child - severe nephrocalcinosis/urolithiasis with access to hemodialysis at the age of 9.5 years, in a younger child - recurrent urolithiasis (from 5 years old) with stable kidney function. The first child, after being for 2 years on programmed hemodialysis, underwent CLKT from a deceased donor. In the early postoperative period, the child required hemodialysis due to a delayed renal graft function. Despite several surgical complications (on the 11th day - intraabdominal bleeding, on the 12th day - stenosis by 80-90% in hepatic artery anastomosis), which were successfully eliminated, the function of the transplanted kidney recovered on the 14th day, and on the 30th day the child was discharged from the hospital. For the last 3.5 years after the operation, the child has a satisfactory function of the transplanted organs. This clinical case confirms the possibility of a successful simultaneous liver and kidney transplantation in a child with end-stage renal disease. In the second child, since the diagnosis of PH1 at the age of 7.7 years and the beginning of conservative therapy, there is a regular discharge of calculi with episodes of renal colic and obstruction of the urinary tract. Despite this, stable kidney function has been maintained over the past 5 years.

первичная гипероксалурия 1 типа, дети, комбинированная трансплантация печени и почки, клинические случаи, primary hyperoxaluria type 1, children, simultaneous liver and kidney transplantation, clinical cases

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