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 ?
This clarifies our near-term priorities, which are to maximize the reach of PROCYSBI in nephropathic cystinosis, further the development of RP103 in Huntington's and mitochondrial diseases, prepare for QUINSAIR'S launch and initiate at least one trial in nontuberculous mycobacteria or bronchiectasis.
The program will provide access to Raptor Pharmaceuticals Corp's PROCYSBI[R] (cysteamine bitartrate) for individual patients with nephropathic cystinosis.
Food and Drug Administration (FDA) has approved PROCYSBI (TM)(cysteamine bitartrate) delayed release capsules for the treatment of nephropathic cystinosis in adults and children 6 years and older.
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.
com/research/sgngb4/raptors_rp_103) has announced the addition of the "Raptor's RP 103 for nephropathic cystinosis - an orphan genetic disease" report to their offering.
The company offers PROCYSBI, a delayed-release capsule, which is used for the management of nephropathic cystinosis in adults, as well as in six years and older children in the United States, in the 28 member states of the European Union, Norway, Liechtenstein, and Iceland.
Nasdaq:RPTP) has announced that it has enrolled the first patient in a pivotal Phase 3 clinical trial of its proprietary delayed-release oral formulation of cysteamine bitartrate ("DR Cysteamine") in patients with nephropathic cystinosis ("cystinosis").
The data supports the effectiveness of pre-dose plasma cysteamine concentration in determining the correct cysteamine dose for nephropathic cystinosis ("cystinosis") patients.