Über Die Cystinkrankheit der Ersten Lebenszeit

Cystinosis

“…By meticulous observations and analyses, it became clear that abnormal cystine accumulation was characteristic of this autosomal recessive disease (2)(3)(4). Although some considered it to be a severe form of cystinuria, cystinosis was clearly distinguished from cystinuria by Bickel's excellent clinical and biochemical observations (5).…”

Cystinosis

“…At necropsy cystine crystals were found throughout the reticulo-endothelial system and the kidneys showed glomerular destruction, tubular atrophy and interstitial fibrosis. A severe case of cystinosis was described by Beumer and Wepler (1937). This was a boy who died at 17 months of age from marasmus and rickets.…”