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Faculty of Medicine
Document Details
Document Type
:
Article In Journal
Document Title
:
Severe Congenital Neutropenia (Kostmann Syndrome)
Severe Congenital Neutropenia (Kostmann Syndrome)
Subject
:
Hematology
Document Language
:
English
Abstract
:
Severe congenital neutropenia (SCN), Kostmann syndrome is a heterogenous disorder of myelopoiesis characterized by severe chronic neutropenia, absolute neutrophil count (ANC) persistently below 0.50 x 109/L, with maturation arrest of neutrophil precursors in the bone marrow; and associated with serious recurrent bacterial infections from early infancy. Sepsis mortality is reduced by an advent of granulocyte colony stimulating factor (G-CSF) therapy. More than 90% of patients respond to G-CSF therapy. However, hematopoietic stem cell transplantation has shown promise in the treatment of non-responders. About 60-80% of SCN cases are associated with constitutive mutations in one copy of the gene encoding neutrophil elastase ELA2. Myelodysplastic syndrome and acute myeloid leukemia (MDS/AML) have been reported. The hazard of MDS/AML increases significantly overtime. Approximately 10% of patients with severe congenital neutropenia develop AML. This is not thought to be the direct result of G-CSF therapy but related to the underlying disease itself
ISSN
:
1110-8630
Journal Name
:
The Egyptian Journal Of Medical Human Genetics
Volume
:
11
Issue Number
:
1
Publishing Year
:
1431 AH
2010 AD
Article Type
:
Review Article
Added Date
:
Thursday, August 11, 2011
Researchers
Researcher Name (Arabic)
Researcher Name (English)
Researcher Type
Dr Grade
Email
سعاد الجاعوني
Al-Jaouni, Soad
Researcher
Doctorate
saljaouni@kau.edu.sa
Files
File Name
Type
Description
30184.pdf
pdf
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