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), and kidney. When they are about six to nine months old, infants with cystinosis refuse to eat, grow poorly, and urinate excessively; these symptoms are related to more severe aspects of the disorder, which include rickets, enlargement of the liver, stunted growth, and kidney malfunction. The crystal deposits in the kidney tubules lead eventually to a full-blown manifestation of Fanconi syndrome (de Toni–Fanconi syndrome) (see de Toni-Fanconi syndrome (de Toni–Fanconi syndrome)), characterized by a generalized defect in the reabsorption of all amino acids, sugar, salts, and water. The specific genetic defect responsible for cystinosis is not known.

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Universalium. 2010.

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

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  • 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

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  • 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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