Kostmann syndrome: Difference between revisions
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imported>Howard C. Berkowitz m (Kostmann Syndrome moved to Kostmann syndrome) |
imported>Howard C. Berkowitz No edit summary |
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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> | ||
==Differential diagnosis== | |||
To be considered are:<ref>{{citation | |||
| title =Kostmann Disease: differential diagnosis and workup | |||
| url = http://emedicine.medscape.com/article/887140-diagnosis | |||
| author = Michael S Tankersley | |||
| date = 11 November 2008 | |||
| journal = eMedicine: Pediatrics: General Medicine > Allergy & Immunology}}</ref> | |||
*[[Agammaglobulinemia]] | |||
*[[Severe Combined Immunodeficiency Disease]] | |||
*[[Autoimmune neutropenia]] | |||
*[[Chronic Benign Neutropenia]] | |||
*[[Shwachman-Diamond Syndrome]] | |||
*[[Glycogen-Storage Disease Type I]] | |||
*[[Methylmalonic Acidemia]] | |||
*[[Pearson Syndrome]] | |||
*[[Cyclic neutropenia]] | |||
*[[Chediak-Higashi syndrome]] | |||
*[[Myelokathexis]] | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 16:24, 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]
Differential diagnosis
To be considered are:[3]
- Agammaglobulinemia
- Severe Combined Immunodeficiency Disease
- Autoimmune neutropenia
- Chronic Benign Neutropenia
- Shwachman-Diamond Syndrome
- Glycogen-Storage Disease Type I
- Methylmalonic Acidemia
- Pearson Syndrome
- Cyclic neutropenia
- Chediak-Higashi syndrome
- Myelokathexis
References
- ↑ Kostmann R. Infantile genetic agranulocytosis. A new recessive lethal disease in man (1956), at 1-78
- ↑ Carlsson G et al. , "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", Haematologica 91 (5): 589
- ↑ Michael S Tankersley (11 November 2008), "Kostmann Disease: differential diagnosis and workup", eMedicine: Pediatrics: General Medicine > Allergy & Immunology