Article
Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.
Pediatric nephrology (Berlin, Germany) - 1 Jan 2014
Kummer Sebastian, Venghaus Andreas, Schlune Andrea, Leube Barbara, Eggermann Thomas, Spiekerkoetter Ute
Abstract excerpt
BACKGROUND: Cystinuria is an inherited disorder of a renal tubular amino acid transporter and leads to increased cystine excretion with the risk of urinary stone formation. Phenotypical classification is based on urinary amino acid concentration as type I (silent), type non-I (hyper-excretors), mixed or untyped. Genotypic classification is based on mutations in SLC3A1 (type A) or SLC7A9 (type B)....
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