cystinosis
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 — 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 … Medical dictionary
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
