Transplantation of hematopoietic cells in five patients with chronic granulomatous disease in the Czech Republic


Authors: A. Janda 1;  P. Keslová 1;  R. Formánková 1;  J. Litzman 2;  A. Šedivá 3;  H. Houšťková 4;  P. Rozsíval 5;  E. Pařízková 5;  J. Starý 1;  P. Sedláček 1
Authors‘ workplace: Klinika dětské hematologie a onkologie UK 2. LF a FN Motol, Praha, přednosta prof. MUDr. J. Starý, DrSc., Ústav klinické imunologie a alergologie LF Masarykovy univerzity, FN U sv. Anny, Brno , přednosta prof. MUDr. J. Litzman, CSc., Ústav imunolog 1
Published in: Čes-slov Pediat 2012; 67 (2): 81-88.
Category: Original Papers

Overview

Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective phagocytosis. Conservative treatment is applied in most of the patients. Currently, the only available curative treatment is allogeneic hematopoietic stem cell transplantation (HSCT).

Thirty-seven patients were diagnosed with CGD in the Czech and Slovak Republic between 1957 and 2011. Calculated incidence of the disease in the Czech Republic is 1:280,000 live births. Five patients with serious course of the disease underwent allogeneic HSCT in 2007–2010. Median age of CGD diagnosis in these patients was 6 months (6–17 months), median age at transplantation was 21 months (1–17 years). One patient was transplanted in myeloablative regimen, 4 patients in regimen with reduced intensity. All of the grafts were from HLA-matched unrelated donors. The procedure was complicated with graft versus host disease – GvHD (3 patients), infections (4 patients), autoimmunity (3 patients) and toxic side effects (3 patients). Median follow-up after the transplantation was 12 months (6–44 months). In all of the patients normalization of granulocyte function was documented within 2 months after the transplantation. Mixed chimerism was present in all of them. The oldest patient (transplanted at the age of 17 years, 4 months) died 6 months after transplantation due to intracranial haemorrhage after operational revision of healed brain abscess. All the other patients (4) are in a good clinical condition, without signs of CGD or GvHD.

In concordance with other transplantation centres we show that early allogeneic HSCT is a suitable treatment of patients with severe CGD.

Key words:
chronic granulomatous disease, primary immunodeficiency, hematopoietic stem cell transplantation


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Neonatology Paediatrics General practitioner for children and adolescents
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