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ABSTRACT: Yesilipek AM, Akcan M, Karasu G, Uygun V, Kupesiz A, Hazar V. Successful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis. Abstract: Alpha-mannosidosis is a rare lysosomal storage disorder with an autosomal recessive inheritance. Deficient alpha-mannosidase activity leads to lysosomal accumulation of mannose-rich oligosaccharides. The disease characterized by mental retardation, skeletal changes, hearing impairment, and recurrent infections. Stem cell transplantation has been shown to be an effective treatment. It works by providing increased levels of α-mannosidase in the localized extracellular milieu to provide improvements in skeletal malformations, neurocognitive, and sensorineural function. In this case report, we describe a pair of siblings with α-mannosidosis who successfully underwent HSCT from matched unrelated donors. In both siblings, enzyme levels reached to normal limits and improvements in clinical symptoms were recognized early after HSCT. We conclude that HSCT should be considered as a therapeutic approach in patients with alpha-mannosidosis before disease-related complications have developed.
Pediatric Transplantation 07/2012; 16(7):779-82. · 1.48 Impact Factor
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ABSTRACT: Although successful hematopoietic stem cell transplantation (HSCT) can offer a cure in thalassemia major, there are only a few and noncomprehensive studies of its effect on the quality of life (QoL), as it is expected to increase the QoL by ending transfusion-related issues. Our objective was to compare the health-related quality of life (HRQoL) of transplanted and nontransplanted thalassemia major patients in a developing country. We have studied the QoL effect of HSCT in consecutively invited 50 nontransplanted and 49 transplanted patients who had received transplants from HLA matched related donors at least two years ago. PedsQL questionnaire was used for the patients under 18 years of age and World Health Organization's WHOQoL-BREF questionnaire for above 18 years of age. Higher QoL was determined in HSCT performed group surveyed in 5-18 years' age group. Detailed analysis marked the profound difference in 8-12 year subgroup, particularly in physical activity questionnaires. QoL scores in HSCT performed adult group are higher than the transfusion-dependent group, especially in physical activity domain. Transplanted adult patients rated their overall health significantly better than patients on conventional therapy. The patients who still have chronic graft versus host disease rated worse compared to those without it. In conclusion, thalassemia major patients who have undergone HSCT at least two years before assessment are not inferior to the transfusion-dependent group with regard to the QoL and have a better QoL than transfusion-dependent patients in some areas. The QoL score is better for school children and adolescents; therefore, we suggest HSCT before primary school. GVHD reduces the QoL significantly and it is obvious that GVHD prevention should be one of the primary goals of post-HSCT follow-up.
Pediatric Hematology and Oncology 06/2012; 29(5):461-71. · 0.89 Impact Factor
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ABSTRACT: There is limited data about the long-term treatment outcome and prognosis of childhood acute lymphoblastic leukemia (ALL) in developing countries. Our study was designed to assess survival data and identify risk factors. Data of 142 children with ALL who were treated with a modified BFM 95 protocol between 1997 and 2007 were evaluated. The median age was 4.3 years. Complete remission (CR) rate after induction phase was 93.5%; with 2.1% induction-related mortality and 0.7% having resistance disease. Of complete responders, 67.1% are in continuous CR with a median follow-up of 63 months (range: 24 to 153 mo). Treatment-related mortality was 17.7% and the total rate of treatment abandonment was 3.5%. The probability of event-free survival was 67.3% (95% confidence interval 59.3-75.3) at 4 years and 63.2% (95% confidence interval 54.4-72.0) at 8 years. This report examines children with ALL treated with a modified ALL-BFM 95 protocol in a tertiary care center in Turkey with adequate follow up and demonstrates the need for improvements especially for patients with unfavorable risk group and strategies to reduce deaths from infection in CR to keep pace with cure rates in developed countries.
Journal of Pediatric Hematology/Oncology 10/2010; 32(8):e317-22. · 1.16 Impact Factor
