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| J Behcet Uz Child Hosp. 2021; 11(2): 198-201 | DOI: 10.5222/buchd.2021.26539 | ||||
A Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary HaemorrhageHavva Yazıcı1, Ebru Canda1, Esra Er1, Baris Malbora2, Burcu Ozturk Hismi3, Huseyin Onay4, Serap Aksoylar5, Sema Kalkan Uçar1, Ferda Ozkinay4, Mahmut Çoker11Ege University Department of Pediatrics, Division of Metabolism and Nutrition, Izmir, Turkey2Tepecik Train and Research Hospital, Division of Hematology, Izmir, Turkey 3Tepecik Train and Research Hospital, Division of Metabolism and Nutrition, Izmir, Turkey 4Ege University Department of Genetics, Izmir Turkey 5Ege University Department of Pediatrics, Division of Oncology Izmir, Turkey Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease due to mutations within the gene IDUA encoding the “α-L-iduronidase”. The clinical manifestations concern multisystemic involvement. There are two disease modifying therapies, enzyme replacement therapy and haematopoietic stem cell transplantation (HSCT). Pulmonary haemorrhage (PH) is a rare complication of HSCT and the case was presented with the reason that the related reports were few in MPS I. Keywords: MPS I, HSCT, pulmonary haemorrhageMPS Tip 1 Olgusunda Hematopoetik Kök Hücre Nakli Sonrası Mortal Komplikasyon: Pulmoner HemorajiHavva Yazıcı1, Ebru Canda1, Esra Er1, Baris Malbora2, Burcu Ozturk Hismi3, Huseyin Onay4, Serap Aksoylar5, Sema Kalkan Uçar1, Ferda Ozkinay4, Mahmut Çoker11Ege Üniversitesi Pediatrik Metabolizma ve Beslenme BD, İzmir2Tepecik Eğitim Araştırma Hastanesi, Pediatrik Hematoloji Kliniği, İzmir 3Tepecik Eğitim Araştırma Hastanesi, Pediatrik Metabolizma ve Beslenme Kliniği, İzmir 4Ege Üniversitesi Tıbbi Genetik AD, İzmir 5Ege Üniversitesi Pediatrik Hematoloji BD, İzmir Mukopolisakkaridozis tip 1 (MPS 1) “α-L-iduronidase” enzimini kodlayan IDUA geninde mutasyonlardan kaynaklanan bir lizozomal depo hastalığıdır. Multisistemik tutulumla karakterizedir. Enzim replasman tedavisi ve hematopoetik kök hücre nakli olmak üzere iki güncel tedavi yöntemi mevcuttur. Pulmoner hemoraji HSCT’ nin nadir bir komplikasyaonu olup, MPS 1 hastalarında nadir olgu sunumları bildirilmiştir. Anahtar Kelimeler: MPS 1, HSCT, pulmoner hemorajiHavva Yazıcı, Ebru Canda, Esra Er, Baris Malbora, Burcu Ozturk Hismi, Huseyin Onay, Serap Aksoylar, Sema Kalkan Uçar, Ferda Ozkinay, Mahmut Çoker. A Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage. J Behcet Uz Child Hosp. 2021; 11(2): 198-201 Corresponding Author: Havva Yazıcı, Türkiye |
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