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
- Cécile Martin (ORCID: https://orcid.org/0000-0002-2265-2048)
- Bertrand Knebelmann (ORCID: https://orcid.org/0000-0002-8115-7303)
- S. Kutchukian (ORCID: https://orcid.org/0000-0002-5411-6274)
- Antoine Thierry
- Laure Écotière
- H. Ducousso
- Frank Bridoux (ORCID: https://orcid.org/0000-0002-2005-8424)
Institutions
- Hôpital Necker-Enfants Malades (FR)
- Université de Poitiers (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
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