Progress of diagnosis and treatment for Gitelman syndrome and cystinosis

Abstract

Gitelman syndrome(GS) is an autosomal recessive, salt-losing tubulopathy resulted from inactivating mutations in the SLCl2A3 gene that encodes the Thiazine diuretic sensitive sodium chloride cotransporter (NCCT). GS is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria.Diagnosis of GS is relied on the clinical symptoms, biochemical abnormalities and genetic test.All GS patients are suggested to keep high-sodium diet.Magnesium and potassium supplements are usually given to GS patients for lifelong to improve clinical symptoms.Individual management of GS includes health education, complication evaluation and regular follow-up with annual evaluation by a nephrologist.Cystinosis is a rare autosomal-recessive lysosomal storage disease caused by inactivating mutations in the CTNS gene that encodes the lysosomal cystine transporter, cystinosin, resulting in the accumulation of cystine within the lysosome.There are 3 clinical forms of cystinosis: infantile or early-onset nephropathic cystinosis, juvenile or late-onset nephropathic cystinosis and adult or ocular cystinosis.Diagnosis of cystinosis is based on the CTNS genetic test.Early diagnosis and early cystine-depleting therapy with cysteamine is essential to prevent or attenuate end-organ damage and improve overall prognosis. Key words: Gitelman syndrome; Cystinosis; SLCl2A3 gene; CTNS gene; Cystine-depleting therapy