Primary hyperoxaluria type 1 - an unexpected diagnosis after kidney transplantation.

Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder caused by a deficiency of the hepatic peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), which catalyses the conversion of glyoxylate to glycine, resulting in increased oxalate production. The clinical consequences of the progressive build up of oxalates include nephrocalcinosis, nephrolithiasis, chronic kidney disease and ultimately renal failure with extra-renal involvement. The diagnosis of PH1 is challenging due to the non-specific nature of its symptoms and the need for costly genetic testing. For many years, the management of PH1 was mainly supportive care. Currently, we have access to novel RNA interference (RNAi) therapeutics such as lumasiran and nedosiran, which reduce hepatic oxalate production, however, they are prohibitively expensive in most countries. The only curative treatment is liver transplantation, and in cases that progress to end-stage kidney disease (ESKD), simultaneous dual kidney and liver transplantation is usually indicated. Case presentation: We present a case of a 46-year-old woman admitted to our clinic on the eighth day post-kidney transplantation for evaluating the causes of delayed graft function (DGF). During the diagnostic work-up, primary hyperoxaluria type 1 (PH1) was diagnosed. A biopsy of the transplanted kidney also revealed microvascular inflammation (MVI). The patient was treated with fluid therapy, a restrictive diet, pyridoxine and, initially, intensive haemodialysis. Given the identification of a genetic variant of the disease that responds well to pyridoxine treatment, and considering the exceedingly high cost of lumasiran therapy, this medication was not utilized. In addition, it was decided to administer methylprednisolone pulses, plasmapheresis and immunoglobulin infusions in response to MVI. This treatment resulted in improvements in both clinical and laboratory parameters. Conclusions: PH1 is a rare cause of calcium oxalate nephrolithiasis and nephrocalcinosis and should be considered in the differential diagnosis of patients with progressive renal failure. This case highlights the importance of early diagnosis, which allows optimal supportive and/or RNAi therapy and appropriate qualification for kidney transplantation in cases of end-stage kidney disease. This is particularly important as isolated kidney transplantation (without concomitant liver transplantation) can lead to rapid loss of graft function and may ultimately prove futile.