nephropathic cystinosis

nephropathic cystinosis

one of the types of cystinosis that involves kidney damage and ophthalmic symptoms.

nephropathic cystinosis

An autosomal recessive disorder characterised by generalised proximal renal tubular dysfunction and progressive renal damage, resulting in end-stage renal disease at 10 years of age due to intracellular accumulation of cystine in the kidney, spleen, liver, lymph node, cornea and thyroid gland, leading to multiorgan failure.
 
Clinical findings
Severe fluid and electrolyte disturbance, renal Fanconi syndrome, growth failure, photophobia.

Molecular pathology
Nephropathic cystinosis is due to one of several mutations of CTNS, which maps to chromosome 17p13.

nephropathic cystinosis

An AR lysosomal storage disease characterized by early-onset renal tubular Fanconi's syndrome, progressive photophobia, and renal failure severe enough to require either hemodialysis or transplantation by age 10, caused by defective trans-lysosomal membrane transport of cystine, resulting in tissue deposition of cystine with corneal erosions, DM, neurologic deterioration Clinical Dehydration, acidosis, vomiting, electrolyte imbalance, hypophosphatemic rickets, FTT Treatment β-mercaptoethylamine–aminothiol cysteamine to deplete intracellular stores and dissolve tissue crystals, which improves growth and delays renal failure. See Salla disease.

nephropathic cystinosis

A rare autosomal recessive LYSOSOMAL STORAGE DISEASE in which cystine crystals are deposited widely throughout the body. Kidney damage may be severe with passage of large quantities of urine containing amino acids and glucose. There is acidosis of the blood with low phosphate and potassium levels and vitamin D-resistant rickets.
References in periodicals archive ?
Horizon Pharma plc announced the launch of Cystinosis United, an initiative created for people living with nephropathic cystinosis, a rare genetic metabolic disease that causes the amino acid cystine to accumulate in all organs of the body.
The patient was diagnosed with nephropathic cystinosis based on these findings and the presence of ocular crystalline deposits.
Clinical and molecular aspects of nephropathic cystinosis.
The program will provide access to Raptor Pharmaceuticals Corp's PROCYSBI[R] (cysteamine bitartrate) for individual patients with nephropathic cystinosis.
Steady-state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patients.
Biopharmaceutical company Raptor Pharmaceutical Corp (Nasdaq:RPTP) announced on Thursday the approval by the European Commission (EC) of PROCYSBI gastro-resistant hard capsules of cysteamine (as mercaptamine bitartrate), as an orphan medicinal product for the treatment of proven nephropathic cystinosis for marketing in the European Union (EU).
The company said the FDA's decision on its New Drug Application for RP103 (PROCYSBI) for the potential treatment of nephropathic cystinosis would be delayed by three months.
In its application, Raptor has requested Priority Review of the NDA, which, if granted, could lead to a decision for marketing approval from the FDA of RP103 for the potential treatment of nephropathic cystinosis in the fourth calendar quarter of 2012.
The company is currently running clinical trials in patients with aldehyde dehydrogenase deficiency, nephropathic cystinosis and non-alcoholic steatohepatitis.
Kaiser-Kupfer experienced success in reducing visual loss associated with the rare metabolic disorders gyrate atrophy and nephropathic cystinosis.
Long-term treatment with growth hormone in short children with nephropathic cystinosis.