Cystinosis
lysosomal storage disease with abnormal accumulation of cystine.
Autosomal recessive inheritance.
Caused by mutation in the gene CTNS (17p13), coding for cystinosin, the lysosomal cystine transporter.
Fanconi syndrome: polyuria, low potassium and phosphates. Start at about 3 to 18 months of age with polyuria, followed by poor growth,photophobia, and ultimately renal failure by age 6 years in the nephropathic form.
Types: Infantile nephropathic; Adolescent nephropathic; Adult (ocular) nonnephropathic
lysosomal storage disease with abnormal accumulation of cystine.
Autosomal recessive inheritance.
Caused by mutation in the gene CTNS (17p13), coding for cystinosin, the lysosomal cystine transporter.
Fanconi syndrome: polyuria, low potassium and phosphates. Start at about 3 to 18 months of age with polyuria, followed by poor growth,photophobia, and ultimately renal failure by age 6 years in the nephropathic form.
Types: Infantile nephropathic; Adolescent nephropathic; Adult (ocular) nonnephropathic