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Information Journal Paper

Title

CASE REPORT: CARDIAC AND RENAL MALFORMATIONS IN A PATIENT WITH SEPSIS AND SEVERE CONGENITAL NEUTROPENIA

Pages

  225-228

Abstract

 Background: G6PC3 deficiency is a new neutropenic syndrome, which is characterized by severe persistent neutropenia, 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 NEUTROPENIA (SCN) with G6PC3 MUTATION, who experienced the first episode of infections at birth. Repeated absolute neutrophil count of less than 500/ml 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.

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    APA: Copy

    EGHBALI, AZIZ, ESHGHI, P., MALEK, F., & REZAEI, NIMA. (2010). CASE REPORT: CARDIAC AND RENAL MALFORMATIONS IN A PATIENT WITH SEPSIS AND SEVERE CONGENITAL NEUTROPENIA. IRANIAN JOURNAL OF PEDIATRICS, 20(2), 225-228. SID. https://sid.ir/paper/572882/en

    Vancouver: Copy

    EGHBALI AZIZ, ESHGHI P., MALEK F., REZAEI NIMA. CASE REPORT: CARDIAC AND RENAL MALFORMATIONS IN A PATIENT WITH SEPSIS AND SEVERE CONGENITAL NEUTROPENIA. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2010;20(2):225-228. Available from: https://sid.ir/paper/572882/en

    IEEE: Copy

    AZIZ EGHBALI, P. ESHGHI, F. MALEK, and NIMA REZAEI, “CASE REPORT: CARDIAC AND RENAL MALFORMATIONS IN A PATIENT WITH SEPSIS AND SEVERE CONGENITAL NEUTROPENIA,” IRANIAN JOURNAL OF PEDIATRICS, vol. 20, no. 2, pp. 225–228, 2010, [Online]. Available: https://sid.ir/paper/572882/en

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