Schwachman-Daimond syndrome: causes, symptoms, diagnosis, treatment

Shwachman-Diamond syndrome occurs with a frequency of 1:10,000-20,000 live births.

Shwachman-Diamond syndrome is characterized by neutropenia and exocrine pancreatic insufficiency in combination with metaphyseal dysplasia (25% of patients). Inheritance is autosomal recessive, there are sporadic cases. The cause of neutropenia is damage to progenitor cells and bone marrow stroma. Neutrophil chemotaxis is impaired.

Shwachman-Diamond syndrome usually begins with frequent infections and steatorrhea in the first 10 years of life. More than half of patients have a severe course of the disease, with frequent infectious episodes. The respiratory tract is most commonly affected. Physical development is delayed. Intelligence may be impaired. In other patients, the course of the disease is relatively benign, despite neutropenia. The absence of steatorrhea in a patient with neutropenia does not exclude Shwachman syndrome; special testing is needed to detect impaired lipid absorption.

In the hemogram of patients with Shwachman-Diamond syndrome, neutropenia is usually profound (<0.5 in μl); in 70% of cases - thrombocytopenia, rarely - macrocytic anemia. In the bone marrow - hypoplasia, impaired maturation of neutrophils, stromal anomalies are detected.

Myeloleukemia develops in 1/3 of patients with Shwachman Diamond syndrome. Treatment is symptomatic: antibacterial and replacement therapy as indicated. In case of neutropenia, granulocyte colony-stimulating factor is prescribed at 1-2 mcg/kg per day. In case of risk of developing acute myeloid leukemia, bone marrow transplantation is possible, however, its results are unsatisfactory due to high transplant mortality.