Shwachman syndrome

Shwachman syndrome (also known as Shwachman-Diamond syndrome, SDS) is a rare congenital disorder that affects multiple systems in the body, primarily the bone marrow, pancreas, and skeletal system. It is named after the American pediatrician Harry Shwachman, who first described the condition in 1964.

Clinical Features

Shwachman syndrome is characterized by a combination of bone marrow failure, exocrine pancreatic insufficiency, and skeletal abnormalities. The clinical features can vary widely among affected individuals.

Hematological Abnormalities

Patients with Shwachman syndrome often present with neutropenia, which is a low count of neutrophils, a type of white blood cell crucial for fighting infections. Other hematological issues may include anemia and thrombocytopenia.

Pancreatic Insufficiency

Exocrine pancreatic insufficiency is a hallmark of Shwachman syndrome. This condition leads to malabsorption and malnutrition due to the pancreas's inability to produce sufficient digestive enzymes. Symptoms may include steatorrhea (fatty stools), poor growth, and vitamin deficiencies.

Skeletal Abnormalities

Skeletal abnormalities are common in Shwachman syndrome and can include metaphyseal dysplasia, which affects the growth plates of bones, leading to short stature and other skeletal deformities.

Genetics

Shwachman syndrome is inherited in an autosomal recessive manner. Mutations in the SBDS gene are responsible for the majority of cases. The SBDS gene is involved in ribosome biogenesis and cellular stress response.

Diagnosis

The diagnosis of Shwachman syndrome is based on clinical findings, laboratory tests, and genetic testing. Key diagnostic criteria include evidence of bone marrow failure, exocrine pancreatic insufficiency, and characteristic skeletal abnormalities. Genetic testing can confirm mutations in the SBDS gene.

Management

Management of Shwachman syndrome is multidisciplinary and focuses on treating the symptoms and complications. This may include:

• Regular monitoring and treatment of hematological abnormalities.
• Pancreatic enzyme replacement therapy to manage exocrine pancreatic insufficiency.
• Nutritional support and supplementation to address malabsorption and vitamin deficiencies.
• Orthopedic interventions for skeletal abnormalities.

Prognosis

The prognosis for individuals with Shwachman syndrome varies depending on the severity of the symptoms and the presence of complications. Regular medical follow-up and supportive care can improve the quality of life for affected individuals.

See Also

• Bone marrow failure
• Neutropenia
• Exocrine pancreatic insufficiency
• Metaphyseal dysplasia
• Autosomal recessive
• SBDS gene

Related Pages

• Bone marrow failure
• Neutropenia
• Exocrine pancreatic insufficiency
• Metaphyseal dysplasia
• Autosomal recessive
• SBDS gene