Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

ABSTRACT:

Background and objectives

Cystinuria is a rare inherited renal stone disease. Mutations in the amino acid exchanger System b(0,+), the two subunits of which are encoded by SLC3A1 and SLC7A9, predominantly underlie this disease. The work analyzed the epidemiology of cystinuria and the influence of mutations in these two genes on disease severity in a United Kingdom cohort.

Design, setting, participants, & measurements

Prevalent patients were studied from 2012 to 2014 in the northeast and southwest of the United Kingdom. Clinical phenotypes were defined, and genetic analysis of SLC3A1 and SLC7A9 combining Sanger sequencing and multiplex ligation probe-dependent amplification was performed.

Results

In total, 76 patients (42 men and 34 women) were studied. All subjects ha

SUBMITTER: Rhodes HL 

PROVIDER: S-EPMC4491297 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature