Delineation of cystinuria in Saudi Arabia: A case series.

ABSTRACT:

Background

Cystinuria is an inherited metabolic disease that is caused by defects in two genes, SLC3A1 and SLC7A9, which result in a renal reabsorptive defect of cystine and other dibasic amino acids, including ornithine, arginine, and lysine. Patients usually present with recurrent renal calculi and may develop renal impairment. Medical management includes high fluid intake and chelating agents. To the best of our knowledge, this is the first study describing cystinuria in Saudi Arabia.

Methods

A retrospective chart review for cystinuria patients from the genetic and nephrology divisions between 2010 to 2015. All patients were investigated, diagnosed and treated at King Abdulaziz Medical City in Saudi Arabia.

Results

Eight patients were identified from five unrelated

SUBMITTER: Obaid A 

PROVIDER: S-EPMC5292799 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature