Clinical and Genetic Analysis of Patients with Cystinuria in the United Kingdom

[摘要] Background and objectives Cystinuria is a rare inherited renal stone disease. Mutations in the amino acid exchanger System b0,+, 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.

[学科分类] 泌尿医学

[关键词] Bone marrow necrosis;Sickle cell disease;Hyperhemolysis syndrome