Acquired cystinuria in a kidney transplant recipient

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 <i>SLC3A1</i> 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.

Authors

Institutions

Publication Details

Journal
Clinical Kidney Journal
Published
2025-11-06
DOI
https://doi.org/10.1093/ckj/sfaf330
Primary Topic
Kidney Stones and Urolithiasis Treatments
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Acquired cystinuria in a kidney transplant recipient

Cécile Martin, Bertrand Knebelmann, S. Kutchukian, Antoine Thierry et al.
Clinical Kidney Journal
Kidney Stones and Urolithiasis Treatments
article

Acquired cystinuria in a kidney transplant recipient

Cécile Martin, Bertrand Knebelmann, S. Kutchukian, Antoine Thierry, Laure Écotière, H. Ducousso, Frank Bridoux
article en

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 <i>SLC3A1</i> 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.

Clinical Kidney JournalVol. 18(12)
Hôpital Necker-Enfants Malades (FR), Université de Poitiers (FR), Assistance Publique – Hôpitaux de Paris (FR)
Openalex Percentile: Top 52%
Kidney Stones and Urolithiasis Treatments
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.