Severe congenital Kostmann's neutropenia
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Severe congenital neutropenia, or Kostmann's syndrome, or infantile agranulocytosis (SCN3, OMIM: 610738) is an AR-inherited disease characterized by severe neutropenia and severe bacterial infections.[1] The genetic basis is a mutation in the HAX1 gene (1q21.3). There are other forms of severe congenital neutropenia, such as autosomal dominant inherited (mutations of the GFI1-1p22 gene or the ELA2-19p13.3 gene).
Pathogenesis[edit | edit source]
- Disruption of the signal transduction cascade via the G-CSF causes the absence of all stages of maturation from promyelocytes,[1]
- Phagocytosis is impaired.
Clinical picture[edit | edit source]
- Already in the first days of life - fever, infection of the skin and umbilical cord, stomatitis,
- Infections tend to become generalized,
- Most common agents: Staphylococcus aureus, E. coli, Pseudomonas aeruginosa.[1]
Diagnostics[edit | edit source]
- Blood count + differential: deep neutropenia,
- Bone marrow: near-complete absence of promyelocytes and myelocytes at normal myeloid lineage.[1]
Therapy[edit | edit source]
- Recombinant G-CSF (long-term side effects: osteoporosis, bone fibrosis, splenomegaly),
- Alternatively, a bone marrow transplant.[1]
References[edit | edit source]
Related articles[edit | edit source]
- Primary immunodeficiency
- Neutropenia
Source[edit | edit source]
- ŠÍPEK, Antonín. Geneticky podmíněné poruchy imunitního systému [online]. Poslední revize 9. 6. 2006, [cit. 23. 12. 2009]. <http://www.genetika-biologie.cz/primarni-imunodeficience>.
References[edit | edit source]
- MUNTAU, Ania Carolina. Pediatrie. 4. vydání. Praha : Grada, 2009. s. 251-252. ISBN 978-80-247-2525-3.
Literature[edit | edit source]
- BARTŮŇKOVÁ, Jiřina. Imunodeficience. 1. vydání. Praha : Grada, 2002. 228 s. ISBN 80-247-0244-4.
