Transplantace hematopoetických buněk u pěti pacientů s chronickou granulomatózní nemocí v České republice

• Title in English: Transplantation of hematopoietic cells in five patients with chronic granulomatous disease in the Czech Republic
• Authors: JANDA A.; KESLOVÁ P.; FORMÁNKOVÁ R.; LITZMAN Jiří; ŠEDIVÁ A.; HOUŠŤKOVÁ H.; ROZSÍVAL P.; PAŘÍZKOVÁ E.; STARÝ J.; SEDLÁČEK P.
• Year of publication: 2012
• Type: Article in Periodical
• Magazine / Source: Česko-slovenská pediatrie
• MU Faculty or unit: Faculty of Medicine
• Field: Paediatry
• Keywords: chronic granulomatous disease; primary immunodeficiency; hematopoietic stem cell transplantation

Attached files

• CsPed_JL12-2.pdf

• Description: 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 chimerismwas present in all of them. The oldest patient (transplanted at the age of 17 years, 4months) 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.