- early onset cystinosis
- infantile nephropathic c.
Medical dictionary. 2011.
early onset cystinosis
Look at other dictionaries:
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
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
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
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