AI Article Synopsis
- - Shwachman-Diamond syndrome is a rare inherited condition that causes issues like pancreatic insufficiency, low white blood cell counts, bone marrow problems, and physical growth delays, with an occurrence rate of 1 in 10,000 to 20,000 births.
- - The disorder has been linked to mutations in the SBDS gene, which have been identified in recent years.
- - A case study of a 28-year-old male highlights typical symptoms, including severe pancreatic insufficiency, neutropenia, physical growth delays, and confirmed diagnosis through genetic testing.
Article Abstract
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.
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