Shvakhmana-Daymond's syndrome
Contents:
Description:
This autosomal and recessive disease which is characterized by insufficiency of a pancreas, a neutropenia, disturbance of a chemotaxis of neutrophils, aplastic anemia, thrombocytopenia, a metafizarny dysostosis, a delay of physical development. Prevalence makes 1:50 000. The SBDS gene (Shwachman-Bodian-Diamond syndrome-gene), on the 7th chromosome, in a zone 7qll which mutations lead to development of this disease is revealed.
Symptoms of the Syndrome of Shvakhmana-Daymond:
Manifestation occurs usually at the age of 3-5 months after introduction of a feeding up, rarely earlier. There are diarrhea till 4-10 times in days, often intermittent character, a plentiful fetid fat chair. Appetite is sharply reduced, dystrophy quickly develops, there is a delay of physical and psychological development. Often find deformations of a skeleton, the signs osteosinging which are followed by spontaneous changes. In peripheral blood note a neutropenia, normokhromny and normosideremichesky anemia, the thrombocytopenia which is combined with a hemorrhagic syndrome. The liver is dense, with a keen edge. Children with Shvakhmana-Daymond's syndrome are subject to bacterial infections of respiratory system and skin (bronchitis, pneumonia, abscesses, a pseuofurunculosis, pyoderma).
Some clinical symptoms (a pancreas hypoplasia, a steatorrhea, pathology of lungs and a liver) demand a mucoviscidosis exception. At Shvakhmana-Daymond's syndrome stalemate test and other tests for a mucoviscidosis are negative.
Reasons of the Syndrome of Shvakhmana-Daymond:
The disease has a genetic etiology.
Treatment of the Syndrome of Shvakhmana-Daymond:
High-calorific diet with restriction of fats, protein-rich, with addition of srednetsepochechny triglycerides, replaceable purpose of drugs of a pancreas, timely antibacterial treatment of infections are shown.
