Shwachman Diamond Syndrome
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Shwachman Diamond Syndrome

Shwachman Diamond Syndrome – Genetic Disease of Children

Shwachman-Diamond syndrome is a fairly rare genetic pathology characterized by hematological disorders, pancreatic hypoplasia, and bone abnormalities. The development of the diamond syndrome is caused by a gene mutation that is transmitted by an autosomal recessive type of inheritance.

It is diagnosed in the neonatal period, and progresses with age, leading to impaired bone marrow function, delayed psychomotor and physical development, diseases of the hematopoietic system, skeletal lesions, systematic infections, exocrine pathological insufficiency.

Predominantly, the defective gene is transmitted to the child from both parents, but there are cases of sporadic occurrence of Schwachman-Diamond syndrome associated with exposure to viral diseases on the fetus.

How common is Schwachman-Diamond syndrome in children?

The disease was first described by scientists in 1964 and belongs to a group of rare congenital pathologies. Approximately 70,000 newborn babies account for one new case of morbidity, while boys get sick a little more often than girls.

What are the symptoms of Schwachman-Diamond syndrome in children?

The clinical picture of the disease is represented by three main disorders:

  • pancreatic cells are replaced by adipose tissue due to impaired function, which leads to enzyme deficiency and poor absorption of fat-soluble vitamins.
  • dysplasia of the skeletal system and, accordingly, the formation of orthopedic pathologies.
  • hematological disorders – anemia, neutropenia, thrombocytopenia, leukemia.
  • The initial manifestations of the syndrome can be noticed by the parents of a sick baby even in the first months of his life:
  • the child is almost not gaining weight;
  • growth retardation.
  • as a result of a decrease in enzyme production, poor digestion is observed in infants, which is accompanied by liquid, frequent, fetid and greasy stools.
  • low resistance to infectious diseases;
  • tendency to prolonged bleeding;
  • decreased appetite;
  • impaired functioning of the gastrointestinal tract and an overabundance of gases in it;
  • rickets;
  • dryness of the skin and mucous membranes;
  • bone deformity;
  • delayed physical development;
  • systematic bone fractures;
  • bloating;
  • thinning of tooth enamel, frequent stomatitis.

Often the syndrome is confused with a disease such as cystic fibrosis, which is also characterized by a violation of the function of the pancreas. An accurate diagnosis can only be made by competent specialists, to whom parents should contact at the first suspicious symptoms.

How is Schwachman-Diamond syndrome treated in children?

Rare pathology is sometimes mistaken for similar symptoms of the disease, and is treated incorrectly, which only aggravates the situation. It is important to make the right decision in choosing a reliable medical institution where doctors are familiar with the features of the Schwachman-Diamond syndrome, know which methods are appropriate for its treatment.

The type of disease is determined on the basis of clinical symptoms, supported by more detailed methods of research. Experts of such profiles as genetic, neurological, gastroenterological, hematological and pediatric are involved in the diagnosis of congenital diseases.

In addition to physical examination, blood, urine and feces tests are performed, the search for mutations of a certain gene during DNA diagnostics, instrumental methods of research, differentiation of the disease. Treatment of Schwachman-Diamond syndrome involves a set of special measures. The best doctors in their field with solid experience and expert knowledge are engaged in the treatment of children with this pathology. Treatment is based on symptomatic therapy:

  • drug therapy with the intake of missing enzymes, vitamins, probiotics, antiviral drugs.
  • correction of the diet with high-calorie foods.
  • in the presence of bone deformities, surgical intervention is performed aimed at eliminating skeletal defects and restoring normal anatomical structure.
  • in some cases, bone marrow transplantation is performed.
  • if hematological disorders are accompanied by tumor processes, radiotherapy and radiation therapy are indicated.

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