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Congenital Agranulocytosis (Kostmann’s Syndrome) and G-CSF Therapy in an Infant
Congenital agranulocytosis (Kostmann’s Syndrome) is a rare autosomal recessive inherited disorder characterised by severe neutropenia, recurrent infections, and death in early life, with the bone marrow showing a maturation arrenst of myeloid cells at the myelocyte stage. The treatment of Kostmann’s Syndrome with G-CSF results in rapid improvement. However, a few unexpected results with the use of G-CSF, were reported. Here, we describe a 7-month-old female with Kostmann’s Syndrome who had recurrent skin infections and a large pyogenic infection in the supravulvar region. The patient was treated with G-CSF successfully at low doses. The infectious process and the quality of lite of the patient improved. There was no adverse effect due to the dosage and the duration. Currently bone marrow transplantation is the best way to treat Kostmann’s Syndrome. Nevertheless, our experience showed that G-CSF treatment in Kostmann’s syndrome was highly effective and successfull on a short term basis.

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Authors: Hanifi Soylu, Ayþegül Ünüvar, Nuran Üstün, Fatih M. Mete, Onur Kutlu, Soner Sazak, Ünsal Özgen

Keywords:

  • Year: 1999
  • Number: 4
  • Referance No: 16806

  • Figure 1. The large pyogenic infection extended to a deep layer of the dermis.
  • Figure 2. Bone marrow smear of the patient: a. Absence of the mature neutrophilic cells
  • Figure 2. Bone marrow smear of the patient: b. Increased eosinophilic cells and normal erythroid line (May-Grünwald-Giemsa, x 1000)

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