Kostmann syndrome

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Classification according to ICD-10
D70 Agranulocytosis
ICD-10 online (WHO version 2019)

The Kostmann syndrome (synonym: Crohn Kostmann, severe congenital neutropenia ) is a rare genetic disease in which from birth in the blood to little or no neutrophil granulocytes (among the white blood cells are found belong).

The disease was first described in 1956 by the Swedish doctor Rolf Kostmann (1909–1982) in a family with six affected children and was initially called infantile genetic agranulocytosis . In 2007, the German pediatrician and Leibniz Prize winner Christoph Klein succeeded in finding the mutated gene with HAX 1 that disrupts the programmed process in the cells. The affected patients therefore lack an important regulator of apoptosis .

This leads to disorders in the maturation of the white blood cells ( myelopoiesis ). Promyelocytes do not differentiate into granulocytes. Because this disease is hereditary, it can affect several people in a family. In rare cases, the disease also occurs spontaneously. The prevalence is less than one case in 300,000 newborns. Due to the accompanying infections, the disease is usually noticed early after birth. People with Kostmann syndrome often suffer from osteoporosis at the same time .

Severe bacterial infections and abscesses are common due to neutropenia . Often from the age of two, erosive gingivitis and periodontitis of the oral cavity occur .

Long-term therapy with G-CSF or a bone marrow transplant are therapeutic options . Before therapy with G-CSF was introduced, most children died from their severe infections. Before effective antibiosis was introduced , the disease was fatal.

Individual evidence

  1. ↑ Alphabetical index for the ICD-10-WHO version 2019, volume 3. German Institute for Medical Documentation and Information (DIMDI), Cologne, 2019, p. 474
  2. ↑ R. Kostmann: Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria. In: Acta Pediatr Suppl. 1956 Feb; 45 (Suppl 105), pp. 1-78. PMID 13326376

literature

  • Helmut Löffler, Torsten Haferlach, Hematological Diseases: A Diagnostic Handbook , Springer 2010.