Donor-derived hypouricemia in irrelevant recipients caused by kidney transplantation.

ABSTRACT:

Background

Hereditary renal hypouricemia (HRH) is a genetically heterogenetic disease. Patients with HRH are almost asymptomatic; but some may experience exercise-induced acute kidney injury (EAKI) and nephrolithiasis which may bring concerns regarding the risk-benefit ratio as marginal kidney donors. This study examined the pathogenic mutations of hypouricemia in two recipients after receiving kidney transplantation, providing preliminary evidence for the mechanism of hypouricemia.

Methods

Two participants underwent detailed biochemical examinations. DNA and RNA were extracted from transplant specimens for sequencing. The whole-genome sequencing and polymerase chain reaction (PCR) amplification were performed to confirm the pathogenic genes. Functional effects of mutant pro

SUBMITTER: Teng L 

PROVIDER: S-EPMC7186701 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature