Hypothesis: Shwachman's syndrome of exocrine pancreatic insufficiency may be caused by neonatal copper deficiency.
Shwachman's syndrome is, after cystic fibrosis, the most common cause of exocrine pancreatic insufficiency in childhood. The cause of the disorder is not known but we were struck by the fact that the histological appearances of pancreatic atrophy in this condition resemble those seen in experimental copper deficiency, in which the pancreatic acinar damage persists long after the copper deficiency is relieved. Other features of Shwachman's syndrome include neutropenia, anaemia and abnormalities of the ribs and of the metaphyses of long bones. All these findings have also been reported in children with copper deficiency during the 1st year of life. We suggest that some or all cases of Shwachman's syndrome are caused by a period of copper deficiency in early infancy.
Paterson
C R
CR
Department of Biochemical Medicine, University of Dundee, UK.
Wormsley
K G
KG
D000740:Anemia / Q000209:etiology; D001847:Bone Diseases / Q000209:etiology; D003300:Copper / Q000172:deficiency*; D010188:Exocrine Pancreatic Insufficiency / Q000209:etiology* / Q000503:physiopathology; D005767:Gastrointestinal Diseases / Q000209:etiology; D006801:Humans; D007223:Infant; D009503:Neutropenia / Q000209:etiology; D010024:Osteoporosis / Q000209:etiology; D012272:Ribs; D013577:Syndrome
D003300:Copper