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Objective: We present outcome data on hematopoietic stem cell transplantation (HSCT) in children with inborn errors of metabolism (IEM). Methods: We retrospectively analyzed data on children up to 18 years of age, diagnosed with IEM, who underwent HSCT between January, 2002 and December, 2020. Results: 24 children, (mucopolysaccharidosis – 13, Gaucher disease – 4, X-linked adrenoleukodystrophy – 4, metachromatic leukodystrophy – 2, Krabbe disease – 1) were included. Donors were matched family donors in 24%, matched unrelated donors in 34%, and haploidentical fathers in 42% of the transplants, with engraftment in 91% of children. Overall survival was 72% (55-100%) with a median followup of 76.5 (10-120 ) months, and progression-free survival of 68% (MPS-76%, X-ALD - 60%, Gaucher disease – 50%, and 100% in MLD and Krabbe disease). Conclusion: HSCT is an available curative option, and early age at HSCT prevents end-organ damage.
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Objective: To compare quality of life of children with thalassemia major who haveundergone stem cell transplantation with those on regular transfusion. Methods: Thestudy included 40 children who underwent transplantation and 40 children and 20 adults onregular transfusion and iron chelation therapy. The quality of life assessment was doneusing the Pediatric Quality of Life Inventory 4.0 Generic Core Scale. Results: The meantotal summary score, psychosocial summary score and physical score was 92, 91 and92.8, respectively in transplant group and 83, 82.7 and 83.6, respectively in children intransfusion group. The adult group on transfusion showed overall poorer scores of 74.9, 76and 73.9, respectively. The average scores in all domains were significantly (P<0.05) lowerand drop steeply in second decade in transfusion group. Conclusion: Allogeneic stem celltransplantation improves quality of life in thalassemia major.
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Objective: To share experience of over 15 years in hematopoieticstem cell transplantation in children with primaryimmunodeficiency disorders.Design: Medical record review.Setting: A referral center for pediatric hemato-oncologicaldisorders.Participants: Children (<18 y) diagnosed to have primaryimmune deficiencies who underwent hematopoietic stem celltransplantation between 2002 and August 2017.Main outcome measures: Disease-free survival, morbidity andmortality.Results: 85 primary immunodeficiency disorder transplants wereperformed with engraftment noted in 80 (94%) transplants and anoverall survival of 67%. The conditioning regimen wasindividualized based on the underlying immune defect. Mixedchimerism was noted in 20% children with 56% (9/16) remainingdisease-free. Graft versus host disease was noted in 33 (39.2%)children with most seen in children with chronic granulomatousdisease. Severe combined immune deficiency transplants weremainly complicated by infections. Immune cytopeniascomplicated Wiskott Aldrich syndrome and Hemophagocyticlymphohistiocytosis transplants. 29.4% (25/85) childrenunderwent haploidentical transplant in our cohort with a survival of70% in this group. Infectious complications were the mostcommon cause of death.Conclusion: Primary immunodeficiency disorders are curable inIndia when transplanted in centers with experienced and trainedpediatric transplant physicians and intensivists
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We describe a single institution experience with the use of granulocyte transfusion in children. This is a retrospective analysis of 45 collections of granulocyte units obtained by apheresis after priming with dexamethasone, infused into 17 children with severe neutropenic infections. Ten children survived the acute infection. Granulocyte transfusion is a useful adjunct to antimicrobials and growth factors in post chemotherapy neutropenic sepsis and is highly effective in children with chronic granulomatous disease and life threatening infections.