Kostmann syndrome: Difference between revisions
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First described in 1956,<ref>{{citation | First described in 1956,<ref>{{citation | ||
| author = Kostmann R. Infantile genetic agranulocytosis. A new recessive lethal disease in man | | author = Kostmann R. Infantile genetic agranulocytosis. A new recessive lethal disease in man | ||
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| title = Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden | | title = Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden | ||
}}</ref> | }}</ref> | ||
==Genetics== | ==Genetics and molecular biology | ||
== | |||
As mentioned, the disease was first described in a group with considerable intermarriage. It had been believed to be an [[autosomal recessive]] disorder, but two suggested genes, ELA-2, the neutrophil elastase gene, or G-CSFR, which defines the [[G-CSF]] receptor, are normal in the survivors with the disease. One patient had an ELA-2 defect but her parents did not, suggesting a spontaneous mutation.<ref name=Carlsson/> | As mentioned, the disease was first described in a group with considerable intermarriage. It had been believed to be an [[autosomal recessive]] disorder, but two suggested genes, ELA-2, the neutrophil elastase gene, or G-CSFR, which defines the [[G-CSF]] receptor, are normal in the survivors with the disease. One patient had an ELA-2 defect but her parents did not, suggesting a spontaneous mutation.<ref name=Carlsson/> | ||
==Diagnosis== | |||
The disease is usually detected after an infant presents with a severe infection, with severe neutropenia and:<ref>{{citation | |||
| title =Kostmann Disease: overview | |||
| url = http://emedicine.medscape.com/article/887140-overview | |||
| author = Michael S Tankersley | |||
| date = 11 November 2008 | |||
| journal = eMedicine: Pediatrics: General Medicine > Allergy & Immunology}}</ref> | |||
* Temperature instability in newborn period | |||
* Fever | |||
* Irritability | |||
* Localized site(s) of infection | |||
==Differential diagnosis== | ==Differential diagnosis== | ||
To be considered are:<ref>{{citation | To be considered are:<ref>{{citation | ||
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*[[Myelokathexis]] | *[[Myelokathexis]] | ||
|} | |} | ||
==Treatment== | |||
[[G-CSF]], often in high dosage, is the core of treatment, although stem cell transplantation has an increasing role. | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 17:52, 30 July 2010
First described in 1956,[1] Kostmann syndrome, also called congenital neutropenia, is characterized as "is characterized by an arrest of the maturation of neutrophil precursors at the promyelocytic stage of differentiation and low levels of mature neutrophils in peripheral blood." It was generally lethal before treatment with granulocyte colony-stimulating factor was available, although some individuals were protected with antibiotics.[2] ==Genetics and molecular biology == As mentioned, the disease was first described in a group with considerable intermarriage. It had been believed to be an autosomal recessive disorder, but two suggested genes, ELA-2, the neutrophil elastase gene, or G-CSFR, which defines the G-CSF receptor, are normal in the survivors with the disease. One patient had an ELA-2 defect but her parents did not, suggesting a spontaneous mutation.[2]
Diagnosis
The disease is usually detected after an infant presents with a severe infection, with severe neutropenia and:[3]
- Temperature instability in newborn period
- Fever
- Irritability
- Localized site(s) of infection
Differential diagnosis
To be considered are:[4]
TreatmentG-CSF, often in high dosage, is the core of treatment, although stem cell transplantation has an increasing role. References
|