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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
Vol. 20, No. 2, 2010, pp. 225-228
Bioline Code: pe10033
Full paper language: English
Document type: Case Report
Document available free of charge

Iranian Journal of Pediatrics, Vol. 20, No. 2, 2010, pp. 225-228

 en Cardiac and renal malformations in a patient with sepsis and severe congenital neutropenia
Eghbali, Aziz; Eshghi, Peyman; Malek, Fatemeh & Rezaei, Nima

Abstract

Background: G6PC3 deficiency is a new neutropenic syndrome, which is characterized by severe persistent neutropenic, early onset infections and additional organ involvement, especially cardiac and urogenital malformations.

Case Presentation: In this report, we present the clinical details of a recently known case of severe congenital neutropenic (SCN) with G6PC3 mutation, who experienced the first episode of infections at birth. Repeated absolute neutrophil count of less than 500/μl was detected during work-up of sepsis in the first month of life. SCN was diagnosed and granulocyte colony-stimulating factor (GCSF) administration initiated. Bone marrow examination revealed maturation arrest in myeloid series at promyelocyte-myelocyte stage. Diarrhea, bronchiolitis, and urinary tract infection were other infectious complications, while hydronephrosis, atrial septal defect, and patent ductus arteriosus were other manifestations.

Conclusion: Prompt and accurate diagnosis of neutropenic patients and appropriate treatment can prevent further complications and improve the quality of life of the affected patients.

Keywords
Severe congenital neittropenia; G6PC3; Mutation; Cardiac malformation; Renal malformation

 
© Copyright 2010 Iran Journal of Pediatrics.
Alternative site location: http://diglib.tums.ac.ir/pub/

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