Kostmann syndrome: Difference between revisions
Jump to navigation
Jump to search
imported>Howard C. Berkowitz No edit summary |
imported>Howard C. Berkowitz No edit summary |
||
| Line 8: | Line 8: | ||
promyelocytic stage of differentiation and | promyelocytic stage of differentiation and | ||
low levels of mature neutrophils in peripheral | 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.<ref>{{citation | blood." It was generally lethal before treatment with [[granulocyte colony-stimulating factor]] was available, although some individuals were protected with antibiotics.<ref name=Carlsson>{{citation | ||
| url = http://www.haematologica.org/cgi/reprint/91/5/589 | | url = http://www.haematologica.org/cgi/reprint/91/5/589 | ||
| journal = Haematologica | | journal = Haematologica | ||
| Line 15: | Line 15: | ||
| 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== | |||
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/> | |||
==Differential diagnosis== | ==Differential diagnosis== | ||
To be considered are:<ref>{{citation | To be considered are:<ref>{{citation | ||
| Line 22: | Line 24: | ||
| date = 11 November 2008 | | date = 11 November 2008 | ||
| journal = eMedicine: Pediatrics: General Medicine > Allergy & Immunology}}</ref> | | journal = eMedicine: Pediatrics: General Medicine > Allergy & Immunology}}</ref> | ||
{{col-begin}} | |||
{{col-break|width=50%}} | |||
{| | |||
|- valign=top | |||
| | |||
*[[Agammaglobulinemia]] | *[[Agammaglobulinemia]] | ||
*[[Severe | *[[Severe combined immunodeficiency disease]] | ||
*[[Autoimmune neutropenia]] | *[[Autoimmune neutropenia]] | ||
*[[Chronic | *[[Chronic benign neutropenia]] | ||
*[[Shwachman-Diamond | *[[Shwachman-Diamond syndrome]] | ||
*[[Glycogen- | *[[Glycogen-storage disease Type I]] | ||
*[[Methylmalonic | {{col-break|width=50%}} | ||
*[[Pearson | *[[Methylmalonic acidemia]] | ||
*[[Pearson syndrome]] | |||
*[[Cyclic neutropenia]] | *[[Cyclic neutropenia]] | ||
*[[Chediak-Higashi syndrome]] | *[[Chediak-Higashi syndrome]] | ||
*[[Myelokathexis]] | *[[Myelokathexis]] | ||
|} | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 16:42, 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
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]
Differential diagnosis
To be considered are:[3]
References
|