Phosphocysteamine

cystinosis /cys·ti·no·sis/ (-o´sis) a hereditary disorder of cystine metabolism; the most common type appears in childhood with osteomalacia, aminoaciduria, phosphaturia, and deposition of cystine in tissues throughout the body, leading to renal failure.

cys·ti·no·sis (s

-n

A hereditary dysfunction of the renal tubules characterized by the presence of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium ions and phosphates, and caused by the abnormal metabolism of cystine and the accumulation of cystine crystals in tissues; it occurs in young children. Also called cystine storage disease.

cystinosis

[sis′tinō′sis]

Etymology: cystine + Gk, osis, condition

a congenital disease characterized by glucosuria; proteinuria; cystine deposits in the liver, spleen, bone marrow, and cornea; rickets; excessive amounts of phosphates in the urine; and retardation of growth. Also called cystine storage disease, Fanconi's syndrome. See also cystine.

cystinosis [sis″tĭ-no´sis]

a hereditary inborn error of metabolism, appearing in various forms. The early onset or infantile form may appear as early as 6 months of age and is marked by osteomalacia, aminoaciduria, phosphaturia, and deposition of cystine throughout the tissues of the body, including the liver, bone marrow, kidney, spleen, and cornea, ending with chronic renal failure. It is the most common cause of fanconi syndrome (def. 2). The prognosis for children with the disease has improved greatly in recent decades. cysteamine (Cystagon) is administered to lower cystine levels within cells and may delay or prevent renal failure The benign or adult form of cystinosis does not affect the kidneys or shorten life span; deposition of cystine crystals occurs in the bone marrow, leukocytes, and corneas. The condition is usually diagnosed by ophthalmic examination. The late onset juvenile or adolescent type falls in between the other two, with ocular and renal manifestations but often no resultant renal failure.

cystinosis

Molecular medicine Any of 3–types I, II, III–AR conditios characterized by impaired transport of cystine across lysosomal membranes; the accumulation of cystine in lysosomes results in crystal formation in various tissues, in particular the kidneys; early renal tubular involvement results in Fanconi syndrome with FTT, dehydration, renal tube acidosis in infancy; cystal-related loss of glomerular function leads to uremia and death by age 10 Clinical Growth retardation, photophobia, hypothyroidism, and in later survivors, visual impairment, corneal ulcerations, pancreatic insufficiency, distal myopathy, dysphagia, CNS involvement Management Cysteamine- β-mercaptoethylamine, or phosphocysteamine removes cystine crystals. See Nephropathic cystinosis.

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Aarskog syndrome acute coronary syndrome Adams-Stokes syndrome Adie's syndrome adrenogenital syndrome afferent loop syndrome Ahumada-del Castillo syndrome Alagille syndrome Albright's syndrome Alport's syndrome amnestic syndrome Apert's syndrome chronic nephropathy Cystagon cysteamine cysteamine bitartrate cystinuria de Lange's syndrome Fanconi syndrome	phosphate binder phosphate diabetes phosphate loading phosphate test phosphate-bond energy phosphatemia phosphates phosphatic phosphatide phosphatidic acid phosphatidyl phosphatidylcholine phosphatidylethanolamine phosphatidylglycerol phosphatidylserine phosphaturia phosphene phosphide phosphine phosphite phospho- phosphoamidase phosphoamide phosphocholine phosphocreatine Phosphocysteamine phosphodiester bond phosphodiester group phosphodiesterase phosphodiesterase inhibitor phosphoenolpyruvate phosphoenolpyruvate-carboxykinase phosphoenolpyruvic acid phosphofructokinase phosphoglucomutase phosphoglycerate phosphoglycerate kinase phosphoglyceride phosphoglyceromutase phosphohexose isomerase deficiency phosphoinositide phosphokinase Phospholine Iodide phospholipase phospholipase A2 phospholipase C phospholipid phospholipid antibody phospholipid as phosphorus phospholipid transfer protein phospholipidosis	Phosphites Phosphites Phosphites Phospho Phospho Phospho Phospho Silicate Glass phospho- phospho- phosphoamidase phosphoamide phosphoanhydride bond phosphoanhydride bond phosphoanhydride bond phosphoanhydride bond phosphoanhydride bond Phosphocellulose Paper Binding Assay phosphocholine phosphocreatin phosphocreatin phosphocreatin phosphocreatin phosphocreatine phosphocreatine phosphocreatine phosphocreatine Phosphocreatine kinase Phosphocreatine kinase Phosphocreatine kinase Phosphocreatine kinase Phosphocysteamine Phosphodiester Phosphodiester phosphodiester bond phosphodiester bond phosphodiester bond phosphodiester bond phosphodiester bond Phosphodiester bonds Phosphodiester bonds Phosphodiester bridges Phosphodiester bridges phosphodiester group phosphodiesterase phosphodiesterase Phosphodiesterase 4b Phosphodiesterase 6B Phosphodiesterase I Phosphodiesterase I Phosphodiesterase I/Nucleotide Pyrophosphatase 1 phosphodiesterase inhibitor phosphodiesterase inhibitor phosphodiesterase inhibitor phosphodiesterase inhibitor Phosphodiesterase inhibitors Phosphodiesterase Type 5 Phosphodiesterases Phosphodiesterases Phosphodiesterases Phosphodiestrase Phosphodiestrase

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