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

Syndrome Shvahmana-Diamond meets with a frequency of 1:10 000-20 000 live newborns.

Syndrome Shvakhmana-Diamond 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 lies in the defeat of progenitor cells and bone marrow stroma. Violated neutrophil chemotaxis.

Syndrome Shvahmana-Diamond usually begins with private infections and steatorrhea in the first 10 years of life. More than half of the patients have a severe course of the disease, with frequent infectious episodes. The most common lesion is the respiratory tract. Characteristic lag in physical development. Intellect can suffer. 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 Schwachman's syndrome; For the detection of impaired absorption of lipids, a special study is needed.

In the hemogram of patients with Schwamman-Diamond syndrome, neutropenia is usually deep (<0.5 in μL); in 70% of cases - thrombocytopenia, rarely - macrocytic anemia. In the bone marrow - hypoplasia, impaired maturation of neutrophils, anomalies of the stroma are revealed.

In 1/3 patients with Schwamman Diamond syndrome, myeloleukemias develop. Treatment is symptomatic: antibacterial and substitution therapy according to indications. In neutropenia, a granulocyte colony-stimulating factor of 1-2 μg / kg is administered per day. At a risk of developing acute myeloid leukemia, bone marrow transplantation is possible, but its results are unsatisfactory because of high transplantation lethality.