cystinosis

A lysosomal storage disorder with various forms, all with autosomal recessive inheritance. The nephropathic form of early childhood is characterized by widespread deposits of cystine crystals throughout the body, including the bone marrow, cornea, and other tissues, with mild elevation of plasma cystine and cystinuria; associated with a marked generalized aminoaciduria, glycosuria, polyuria, chronic acidosis, hypophosphatemia with vitamin D-resistant rickets, and often with hypokalemia; other extrarenal manifestations include photophobia and hypothyroidism; due to a defect in the transport of cystine across lysosomal membranes caused by mutation in the CTNS gene on 17p. There is a milder form with onset in adolescence [MIM*219900] and one with onset in adulthood without kidney damage [MIM*219750]; the latter two forms are thought to be allelic to the nephropathic form of early childhood. SYN: cystine storage disease. [cystine + G. -osis, condition]

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cys·ti·no·sis .sis-tə-'nō-səs n, pl -no·ses -.sēz a recessive autosomally inherited disease characterized esp. by cystinuria and deposits of cystine throughout the body
cys·ti·not·ic -'nät-ik adj

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n.
an inborn defect in the metabolism of amino acids, leading to abnormal accumulation of the amino acid cystine in the blood, kidneys, and lymphatic system. See also Fanconi syndrome.

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cys·ti·no·sis (sis″tĭ-noґsis) a group of lysosomal storage diseases caused by mutations in the CTNS gene (locus: 17p13), which encodes cystinosin, characterized by widespread intralysosomal accumulation of cystine crystals and consequent cell and tissue destruction. Called also cystine storage disease and Lignac-Fanconi syndrome.

Medical dictionary. 2011.

Look at other dictionaries:

  • Cystinosis — Classification and external resources Chemical structure of cystine formed from L cysteine (under biological conditions) ICD 10 E …   Wikipedia

  • cystinosis — ▪ pathology       inborn error of metabolism resulting in the deposition of crystals of the amino acid cystine in various body tissues. Tissues that are particularly affected include the bone marrow, liver, cornea (where the crystals can be seen) …   Universalium

  • cystinosis — noun A disorder caused by abnormal metabolism of cystine …   Wiktionary

  • cystinosis — cys·ti·no·sis …   English syllables

  • cystinosis — n. an inborn defect in the metabolism of amino acids, leading to abnormal accumulation of the amino acid cystine in the blood, kidneys, and lymphatic system. See also: Fanconi syndrome …   The new mediacal dictionary

  • cystinosis — …   Useful english dictionary

  • late onset juvenile cystinosis — cystinosis with onset in the second decade of life, characterized by photophobia, mild proximal tubulopathy, and slowly progressive glomerulopathy that may progress to chronic renal failure. Called also adolescent nephropathic c …   Medical dictionary

  • adult nonnephropathic cystinosis — benign nonnephropathic cystinosis cystinosis characterized by photophobia caused by deposition of cystine crystals in the cornea, without renal damage. Called also ocular nonnephropathic c …   Medical dictionary

  • infantile nephropathic cystinosis — the most common cause of Fanconi syndrome (def. 2), a type of cystinosis marked by vitamin D–resistant rickets, chronic acidosis, polyuria, and dehydration, all resulting from proximal renal tubular dysfunction, and by corneal opacities, growth …   Medical dictionary

  • nephropathic cystinosis — any of the types of cystinosis that involve kidney damage as well as ophthalmic symptoms; see early onset c. and late onset juvenile c …   Medical dictionary

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