Mitochondriopathie bei einem Kind mit Shwachman-Syndrom und Zöliakie Fallbericht = Rare combination of celiac disease and respiratory-chain-defect with Shwachman syndrome. Case report
Auteur(s) / Author(s)
CASTRO FRENZEL B. (1) ; DAS A. M. (2) ; MARG W. (1) ;
Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)
(1) Prof.-Hess-Kinderklinik, Zentrum für Kinderheilkunde und Jugendmedizin, Zentralkrankenhaus Sankt-Jürgen-Strasse, Bremen, ALLEMAGNE
(2) Universitäts-Kinderklinik Hamburg-Eppendorf, ALLEMAGNE
Résumé / Abstract
Background. The Shwachman syndrome represents one of the causes of exocrine pancreatic insufficiency, surpassed in incidence only by cystic fibrosis. It is a heriditary multi-organ disease with effects on pancreatic function, hematopoesis and growth of cartilage and bone. Case report. In our case, who presented with a rare combination of celiac disease and diabetes mellitus, we want to emphasise the large variability of clinical signs and symptoms.The pathogenesis of Shwachman syndrome is not delineated.The case presented here showed a respiratory-chain-defect in complex II, IV and V in fibroblast culture. Conclusions. We propose patients with Shwachman syndrome to investigate for respiratory-chain defect.This could help for better classification and diagnosis of this syndrome.
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America
