Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report

Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report

Abstract Background Renal hypouricemia (RHUC) is a genetic disorder caused by mutations in the SLC22A12 gene, which encodes the major uric acid (UA) transporter, URAT1. The clinical course of related, living donor-derived RHUC in patients undergoing kidney transplantation is poorly understood. Here,...

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Bibliographic Details
Main Authors: Kiyokazu Tsuji, Mineaki Kitamura, Kumiko Muta, Yasushi Mochizuki, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Hideki Sakai, Hiroshi Mukae, Tomoya Nishino
Format: Article
Language:English
Published: BMC 2020-07-01
Series:BMC Nephrology
Subjects:
SLC22A12
Renal hypouricemia
Chimerism
Renal allografts
Fluorescence in situ hybridization
Online Access:http://link.springer.com/article/10.1186/s12882-020-01940-4

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