Respiratory aspects of Shwachman's syndrome in adults

Abstract

Shwachman's Syndrome is a rare disorder which causes considerable morbidity in childhood and can be confused with cystic fibrosis. Six patients (4 males; mean age 27 yrs) are described in order to illustrate the clinical picture of the syndrome in adults. Recognized features persisting in later life include pancreatic insufficiency and bone marrow dysfunction (all patients), short stature (5/6), advanced dental caries (4/6), and impaired glucose tolerance (2/6). Chest radiograph was normal in all patients whilst lung function tests showed mild restriction in three and obstruction in two. All patients were cyclically neutropenic (nadir count 2.1 x 109·l-1). Four of the six patients were thrombocytopenic and three had persistent immunoglobulin deficiencies. Neutrophil chemotaxis was abnormal in four patients and the nitro blue tetrazolium test was abnormal in fifth. Two patients suffered from recurrent respiratory infections, one of whom died from bone marrow aplasia. Although Shwachman's Syndrome may be less troublesome in adults than in children, many of the abnormalities persist into adult life and may continue to cause diagnostic difficulty.