<unk> , also called<unk><unk> -Kaufmann disease or nephropathic cystinosis, is an autosomal recessive renal disorder of childhood comprising cystinosis and renal rickets. It is caused by mutation in the CTNS gene encoding for cystinosin, transporting cystine out of the lysosomes. A defect in the cystinosin leads to accumulation of excessive cystine crystals in the lsysosomes of all body cells and organs. The most commonly affected organs are the eyes and kidneys but it can also affect the thyroid, pancreas, gonads, muscles and CNS. The symptoms are renal calculi, osteomalacia, aminoaciduria, glycosuria, polyuria, chronic acidosis, hypophosphatemia with vitamin D-resistant rickets, and often with hypokalemia, photophobia, blepharospasm,  hypothyroidism, primary hypogonadism in males, hypotonia, speech delay, motor impairment, cognitive dysfunction, Diabetes, hypopigmentation, coarsened facial features and impaired sweating. The diagnosis is made with measuring cystine levels in polymorphonuclear leukocytes or cultured fibroblasts. Molecular analysis of the cystinosin gene can be done for definitive diagnosis.The mainstay of treatment is cystine-depleting therapy with cysteamine. There are no established measures for the primary or secondary prevention of<unk> .
Abderhalden-Kaufmann-Lignac syndrome
Smith-Magenis syndrome
Weissenbacher-Zweymüller syndrome
Smith-Lemli-Opitz syndrome
Bardet-Biedl syndrome
Smith–Lemli–Opitz syndrome
Klippel-Trenaunay-Weber syndrome
Rabson-Mendenhall syndrome