nephropathic cystinosis

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 ?
The Phase 2 clinical trial is a single arm, open label study designed to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of subcutaneous (SC) ELX-02 in 6 patients with nephropathic cystinosis with at least 1 nonsense mutation in the cystinosis gene.
Study 003 is a single arm, open label study designed to assess the safety, tolerability, pharmacokinetics, and pharmacodynamics of subcutaneous ELX-02 in patients with nephropathic cystinosis with at least 1 nonsense mutation in the cystinosin gene.
The capsules are FDA-approved for children one year of age and older and adults living with nephropathic cystinosis.
Procysbi, for the treatment of infantile nephropathic cystinosis, a genetic disease affecting the kidneys;
Long-term treatment with growth hormone in short children with nephropathic cystinosis. J Pediatr 2001;138:880-7.
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. J Mol Med (Berl) 1998;76:295-302.
The program will provide access to Raptor Pharmaceuticals Corp's PROCYSBI[R] (cysteamine bitartrate) for individual patients with nephropathic cystinosis. Through the program PROCYSBI[R] will be available worldwide, except for the USA where the drug is already commercially available, LATAM and a small number of European territories.
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.
Food and Drug Administration ("FDA") seeking approval to market its investigational drug candidate, Cysteamine Bitartrate Delayed- release Capsules (RP103), for the potential treatment of nephropathic cystinosis. 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.