DE   EN   ES   FR   IT   PT Medical genetics Shvakhmana-Daymond's syndrome

Shvakhmana-Daymond's syndrome


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.

Drugs, drugs, tablets for treatment of the Syndrome of Shvakhmana-Daymond:

  • Препарат Креон® 10000.

    ÈÓÑ«¡® 1000

    Digestive fermental means.

    Abbott Laboratories (Abbott Leboratoriz) Netherlands

  • Препарат Креон.


    Polyfermental drugs (lipase + protease, etc.).

    Solvay Pharmaceuticals, (Solvey Pharmasyyutikalz) GmbH Germany

  • Препарат Креазим 10 000 ; 20 000 капс. №20.

    Kreazim 10 000; 20 000 капс. No.

    The means influencing the alimentary system and metabolic processes.

    CJSC Lekhim-Kharkiv Ukraine

  • Препарат Эрмиталь.


    Drugs, digestant. Fermental drugs.

    Gmnenihal GmbH (Gryunentad Gmbh) Germany

  • Препарат Н-ЗИМ.


    Fermental drugs.

    LLC Pharmlend Republic of Belarus

  • Сайт детского здоровья