Clinical Features and Signs of Schwachman-Diamond Syndrome
Schwachman-Diamond syndrome is a congenital pathology of the pancreas development. Hyperplasia is accompanied by a decrease in the number of leukocytes in the blood. The consequence of the syndrome is an anomaly in the growth and formation of the skeleton in children. The exact cause of the syndrome is unknown. It is assumed that during intrauterine development, the pancreas is affected, as well as the bone marrow, and the formation of cartilage tissue is disrupted.
The expression of the disease can be anomalies in the development of the skeleton, for example, short ribs with free front ends, irregular or undeveloped cartilage. Lung and heart lesions are less common. Externally, the pathology of the development of the pancreas looks like the replacement of some segments of the gland with adipose tissue. The pancreatic ducts, as a rule, are not damaged, there are no signs of an inflammatory process.
The syndrome is characterized by a congenital decrease in immunity, increased susceptibility to infections, impaired gastrointestinal functions. Schwachman-Diamond syndrome is diagnosed in early childhood. Genetic predisposition to the disease has not been proven at the moment. There are no specific methods of treating the syndrome at the moment.
Replacement therapy with pancreatic enzymes is used, which contributes to the formation of the child’s immune system and reduces the risk of infection with infectious diseases. At the moment, probiotics can also form a fairly stable gastrointestinal microflora and reduce negative reactions to food, improving the nutrition of the child. Also, the balance of microflora stabilizes the stool, removing the chronic diarrhea characteristic of the syndrome.
Bifidum BUG is currently most effective in creating viable microflora and is shown to children from the first day of life, as well as has a pleasant taste and smell, which facilitates use in newborns.
Signs and clinical features
The syndrome manifests itself in a wide range of abnormalities and symptoms. The main characteristics of the syndrome are exocrine pancreatic dysfunction, hematological disorders and growth retardation. Only the first two of them are included in the clinical diagnostic criteria.
Hematological abnormalities: neutropenia can be periodic or permanent and is the most common hematological finding. A low number of neutrophils exposes patients to the risk of developing severe recurrent infections, which can be life-threatening. Anemia (low red blood cell count) and thrombocytopenia (low platelet count) may also occur. Bone marrow is usually hypocellular, with delayed maturation in myeloid clones, which give neutrophils, macrophages, platelets and erythrocytes. Patients may also develop progressive bone marrow insufficiency or transformation into acute myelogenous leukemia.
Exocrine pancreatic dysfunction: exocrine pancreatic insufficiency occurs due to a lack of acinar cells that produce digestive enzymes. They are severely depleted and replaced with fat. The lack of pancreatic digestive enzymes makes patients unable to digest fat. However, the condition of the pancreas in some patients may improve with age.
Growth retardation: in more than 50% of patients, growth is below the third percentile, and low growth does not seem to be associated with nutritional status. Other skeletal abnormalities include metaphysical dysostosis (45% of patients), thoracic dystrophy (thoracic abnormalities in 46% of patients) and rib-cartilaginous thickening (shortened ribs with expanded ends in 32% of patients). Skeletal problems are one of the most variable components of SDS, while 50% of affected siblings from the same family do not agree on clinical manifestations or type of abnormalities. Despite this, a thorough review of the radiographs of 15 patients showed that they all had at least one skeletal anomaly, although many of them were subclinical.
Other signs include metaphysical dysostosis, mild hepatic dysfunction, increased frequency of infections.
Tags: children health, human health, Schwachman-Diamond Syndrome