BOALA KOSTMANN LA COPIL

  • Magdalena SALARIU Spitalul Clinic de Urgențe pentru Copii ”Sf Maria” Iași
  • Ingrid MIRON Spitalul Clinic de Urgențe pentru Copii ”Sf. Maria” Iași
  • I. TANSANU Spitalul Clinic de Urgențe pentru Copii ”Sf. Maria” Iași
  • Doina GEORGESCU Spitalul Clinic de Urgențe pentru Copii ”Sf. Maria” Iași
  • Maria Magdalena FLOREA Spitalul Clinic de Urgențe pentru Copii ”Sf. Maria” Iași
Keywords: SEVERE CONGENITAL NEUTROPENIA, KOSTMANN DISEASE

Abstract

Kostmanns disease (KD) is a severe
congenital neutropenia, a rare autosomal recessive disorder of neutrophil number. Complete
blood count with differential reveals an ANC less than 500/mm3, as seen in classic cases,
monocytosis and eosinophilia. Bone marrow aspiration or biopsy reveals an arrest of neutrophil
precursor maturation at the promielocyte or myelocyte level. KD results in an increased
susceptibility to frequent bacterial infections. In the absence of medical intervention with
granulocyte colony-stimulating factor (G-CSF), bone marrow transplantation, the mortality rate
is 70% within the first year of life. We present three cases to illustrate this rare entity, the
difficulty of diagnosis, but also to underline the importance of correct treatment.

Author Biographies

Magdalena SALARIU, Spitalul Clinic de Urgențe pentru Copii ”Sf Maria” Iași

Clinica a IV-a Pediatrie - Secția Hemato-Oncologie

Ingrid MIRON, Spitalul Clinic de Urgențe pentru Copii ”Sf. Maria” Iași

Clinica a IV-a Pediatrie - Secția Hemato-Oncologie

I. TANSANU, Spitalul Clinic de Urgențe pentru Copii ”Sf. Maria” Iași

Clinica a IV-a Pediatrie - Secția Hemato-Oncologie

Doina GEORGESCU, Spitalul Clinic de Urgențe pentru Copii ”Sf. Maria” Iași

Laborator clinic

Maria Magdalena FLOREA, Spitalul Clinic de Urgențe pentru Copii ”Sf. Maria” Iași

Clinica a II-a Pediatrie

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Published
2019-10-15
Section
INTERNAL MEDICINE - PEDIATRICS