Shwachman syndrome

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Shwachman Syndrome

Shwachman Syndrome (pronounced: shwak-man sin-drome), also known as Shwachman-Diamond Syndrome or Shwachman-Bodian-Diamond Syndrome, is a rare genetic disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature.

Etymology

The syndrome is named after the pediatricians Harry Shwachman and Louis K. Diamond who first described it in 1964. The term "syndrome" is derived from the Greek word "syndromē" which means "concurrence of symptoms" or "running together".

Symptoms

The most common symptoms of Shwachman Syndrome include exocrine pancreatic insufficiency, which leads to malabsorption and failure to thrive, bone marrow dysfunction, leading to neutropenia and increased susceptibility to infections, and skeletal abnormalities, including metaphyseal dysplasia and short stature.

Diagnosis

Diagnosis of Shwachman Syndrome is based on clinical features, laboratory findings, and genetic testing. The presence of mutations in the SBDS gene confirms the diagnosis.

Treatment

Treatment is supportive and includes pancreatic enzyme replacement, nutritional support, and management of hematologic abnormalities. Bone marrow transplantation may be considered in severe cases.

Prognosis

The prognosis of Shwachman Syndrome varies and depends on the severity of symptoms and the presence of complications such as myelodysplastic syndrome or acute myeloid leukemia.

See also

External links

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