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. 2011.

Look at other dictionaries:

  • 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

  • adolescent nephropathic cystinosis — late onset juvenile c …   Medical dictionary

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

  • 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

  • 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

  • early onset cystinosis — infantile nephropathic c …   Medical dictionary

  • CTNS (gene) — Cystinosin, lysosomal cystine transporter Identifiers Symbols CTNS; CTNS LSB; PQLC4 External IDs …   Wikipedia

  • Cystinose — Référence MIM 219750 219800 219900 606272 Transmission Récessive Chromosome …   Wikipédia en Français

  • William A. Gahl — William A. Gahl, MD, PhD is the current Clinical Director of the National Human Genome Research Institute at the NIH main campus in Bethesda, MD.Dr. Gahl graduated with a BS from Massachusetts Institute of Technology in 1972. He earned his MD… …   Wikipedia

  • Encephalopathy — Classification and external resources ICD 9 348.30 MeSH D001927 Encephalopathy /ɛnˌsɛfəˈlɒpəθi/ means disorder or disease …   Wikipedia

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