Inherited Pediatric Bone Marrow Failure Syndromes

The syndrome of inherited bone marrow failure in children includes Schwachman-Diamond syndrome. It is a rare hereditary disease with an autosomatoresessive type of inheritance. Clinical manifestation of the disease is observed in neonatal age and is manifested by symptoms of damage to the gastrointestinal tract, bone skeleton and blood system. During the first year of life, the clinical picture is dominated by malassimilation syndrome, which is based on exocrine pancreatic insufficiency. With age, the delay in psychomotor development progresses. Cardiomyopathy is rare. Delayed puberty is characteristic.

Pathology is severe and requires a doctor to have the highest qualifications and great experience in treatment. Such qualities are possessed by specialists of the leading Israeli clinic Tel Aviv Medical Clinic. Our clinic has a real team of professionals who have been identifying and treating pathology for more than 10 years. We use original drugs and unique methods of therapy. It is worth noting that we have set tariffs at the state level. Thus, you receive high-end services at an acceptable cost. If necessary, our specialists will help raise funds for treatment.

Symptoms of the disease

The parents of the baby may notice the following alarming symptoms:

• Diarrhea;
• Meteorism;
• Reduced appetite;
• Dystrophy;
• Anemia;
• Bone deformation;
• Increased irritability;
• Loss of interest in toys.

Do not risk the health of the baby, you should make an appointment with a qualified children’s doctor. He will conduct the necessary examination of the body and draw up an individual treatment plan.

Diagnosis and treatment of pathology

The patient may need advice from pediatric, gastroenterological, neurological and genetic professionals. To establish and confirm the diagnosis, the doctor collects anamnestic information, analyzes clinical manifestations, conducts a physical examination and directs the patient for additional examinations. As part of the diagnosis, they can perform a program, a general and biochemical blood test, a blood examination for hormone levels, computer or magnetic resonance imaging, ultrasound, radiography. In a general blood test, neutropenia, thrombocytopenia, anemia, rarely pancytopenia are detected.

Etiotropic therapy has not been developed, so symptomatic treatment is carried out. The patient has corrected the diet, reducing fat intake. Replacement therapy is prescribed to fill the missing pancreatic enzymes. Infectious complications are treated with antibacterial agents. Chemotherapy and radiotherapy are used for severe ailments and serious hematological disorders. According to indications, a bone marrow transplant is possible.