[Shwachman-Diamond syndrome].
Shwachman-Diamond syndrome is an inherited autosomal recessive disease that appears as exocrine pancreatic insufficiency, neutropenia, impaired neutrophil chemotaxis, aplastic anemia, thrombocytopenia, metaphyseal dysplasia, and physical retardation. Its worldwide prevalence is 1:10,000 to 1:20,000 live births depending on the region. The SBDS gene and a few mutations, which lead to this syndrome, have been found in the past decade. The paper describes a case of this rare disease in a 28-year-old male patient who has all characteristic manifestations as lipomatosis and severe exocrine pancreatic insufficiency, neutropenia with bone marrow hypoplasia, physical retardation, glucose intolerance, secondary osteopenia, and minor cardiac anomalies. Its clinical diagnosis was verified by molecular genetic testing.
L V
LV
Vinokurova
E A
EA
Dubtsova
N I
NI
Yashina
I S
IS
Shulyatyev
Yu V
YV
Osipenko
D000328:Adult; D001851:Bone Diseases, Metabolic / Q000209:etiology; D001855:Bone Marrow Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology; D005820:Genetic Testing; D018149:Glucose Intolerance / Q000209:etiology; D006801:Humans; D008068:Lipomatosis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D009154:Mutation; D009503:Neutropenia / Q000209:etiology; D012720:Severity of Illness Index; D000081003:Shwachman-Diamond Syndrome