[Combination of a Shwachman syndrome and a complex granulocyte function disorder in a girl].
We report the case of a 1-year-old girl with the typical symptoms of Shwachman syndrome: neutropenia, insufficiency of the exocrine pancreas, and metaphyseal dysostosis. The clinical course is complicated by recurrent infections caused by the neutropenia and an additional defect of granulocyte function. We demonstrate a severe defect of chemotactic activity as well as a disturbance of the intracellular oxidative metabolism leading to defective killing of Staphylococcus aureus and Candida albicans.
D001855:Bone Marrow Diseases / Q000150:complications*; D002633:Chemotaxis; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications*; D005260:Female; D006098:Granulocytes / Q000502:physiology / Q000503:physiopathology*; D006402:Hematologic Diseases / Q000150:complications*; D006801:Humans; D007223:Infant; D009503:Neutropenia / Q000150:complications; D010587:Phagocytosis; D013577:Syndrome
Kombination eines Shwachman-Syndroms mit einer komplexen Granulozytenfunktionsstörung bei einem Mädchen.