Thyroid dysfunction chronologically follows kidney dysfunction and develops in about 50% of untreated children by 5-10 years of age. In 1970, Chan et al were the first to describe primary hypothyroidism in cystinosis and performed a histologic examination of the thyroid gland showing cystine crystal accumulation and fibrosis. Biochemically, hypothyroidism usually manifests with elevated thyroid...

11 children with either cystinosis or Lowe's syndrome had a reduced content of plasma and muscle carnitine due to renal Fanconi syndrome. After treatment with oral L-carnitine, 100 mg/kg per d divided every 6 h, plasma carnitine concentrations became normal in all subjects within 2 d. Initial plasma free fatty acid concentrations, inversely related to free carnitine concentrations, were reduced...

We present a 7-year-old patient who was diagnosed with asymptomatic nephropathic cystinosis following the detection of the pathognomonic corneal white crystalline opacities during a routine eye examination.

Three children with nephropathic cystinosis were treated with indomethacin 3 mg/kg a day for periods ranging from 9 to 18 months. The drug produced worthwhile clinical improvement in all, with marked beneficial effects on polyuria, polydipsia, and general wellbeing. Clearance studies performed under conditions of maximal water diuresis showed that proximal tubular sodium reabsorption was increa...

BACKGROUND Nephropathic cystinosis is an autosomal recessive disease resulting from intracellular accumulation of cystine leading to multiple organ failure. CASE REPORT We describe the clinical course of a patient managed from the age of six until his death at the age of 33 years. He underwent multiple surgery, including two renal transplants, developed transplant renal artery stenosis that w...

Defective catabolite export from lysosomes results in lysosomal storage diseases in humans. Mutations in the cystine transporter gene CTNS cause cystinosis, but other lysosomal amino acid transporters are poorly characterized at the molecular level. Here, we identified the Caenorhabditis elegans lysosomal lysine/arginine transporter LAAT-1. Loss of laat-1 caused accumulation of lysine and argin...

Cystinosis, an autosomal recessive disorder of lysosomal cystine accumulation, results from mutations in the CTNS gene that encodes the lysosomal cystine transporter, cystinosin. Renal tubular Fanconi syndrome occurs in infancy, followed by rickets, growth retardation, photophobia, and renal failure, which requires renal transplantation at approximately 10 yr of age. Treatment with cysteamine d...

BACKGROUND To report clinical features of bilateral angle-closure glaucoma in a patient with nanophthalmic eyes associated with ocular cystinosis, foveoschisis and pigmentary retinal dystrophy. This is probably the first published report of the possible association of all these five entities in the same patient. CASE PRESENTATION A 50-year-old white male was referred for uncontrolled glaucoma...

AIMS Cysteamine is used to reduce tissue cystine content in patients suffering from nephropathic cystinosis. The objectives of the current study were to investigate pharmacokinetics and pharmacodynamics of cysteamine bitartrate in children and young adults with nephropathic cystinosis. METHODS Cysteamine bitartrate was administered to 11 cystinosis patients at their regular dose level in a si...