Progressive destructive bone changes in patients with cystinosis
Abstract
Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder in which intracellular cystine accumulates. It is caused by mutations in the CTNS gene. Clinical manifestations include renal tubular Fanconi syndrome in the first year of life, rickets, hypokalaemia, polyuria, dehydration and acidosis, growth retardation, hypothyroidism, photophobia and renal glomerular deterioration. Late complications include myopathy, pancreatic...
Paper Details
Title
Progressive destructive bone changes in patients with cystinosis
Published Date
Sep 28, 2013
Journal
Volume
43
Issue
3
Pages
387 - 391
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