ShwachmanDiamondszindróma

Shwachman-Diamond syndrome, often abbreviated as SDS, is a rare inherited disorder characterized by a triad of symptoms: pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. Individuals with SDS typically present with problems related to the digestion of fats and nutrients due to the pancreas not producing enough digestive enzymes. This often leads to chronic diarrhea, failure to thrive, and vitamin deficiencies.

The bone marrow dysfunction in SDS can manifest in various ways, including neutropenia, a low count of a type of white blood cell, making individuals more susceptible to infections. Other blood cell lines can also be affected, potentially leading to anemia or low platelet counts. Skeletal abnormalities are another hallmark of SDS and can include a characteristic chest shape (short ribs and sternum), scoliosis, and abnormalities in the long bones.

The genetic basis of SDS is primarily linked to mutations in the _SBDS_ gene. The inheritance pattern is autosomal recessive, meaning that both parents must carry a copy of the mutated gene for their child to be affected. Diagnosis is often made based on clinical symptoms, laboratory tests confirming pancreatic insufficiency and bone marrow dysfunction, and genetic testing. Management focuses on addressing the specific symptoms, including pancreatic enzyme replacement therapy, monitoring for infections and their treatment, and orthopedic care for skeletal issues. The prognosis for individuals with SDS varies depending on the severity of symptoms and the effectiveness of management.