Year: 2025
Type: article
Study design: Case Report
Abstract: ABSTRACT Cystinuria is a rare autosomal recessive hereditary disorder characterized by increased urine cystine excretion and recurrent kidney stone formation. Acquired cystinuria after kidney transplantation is extremely rare, with, to our knowledge, a single case described in the literature, albeit without genetic explorations. We herein report a 59-year-old male kidney transplant recipient, without history of urolithiasis, who developed cystine stones in the allograft. Genetic studies revealed a homozygous pathogenic mutation in the SLC3A1 gene in the deceased donor. This case demonstrates the potential for transmission of cystinuria through the kidney allograft and underlines the value of genetic analysis in the donor.
Source: Clinical Kidney Journal
DOI: 10.1093/ckj/sfaf330
Authors: Cécile Martin, Stessy Kutchukian, Laure Ecotière, Héloïse Ducousso, Antoine Thierry, Bertrand Knebelmann, Frank Bridoux
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,335
OpenAlex ID: W4416058796
