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A Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage [Behcet Uz Cocuk Hast Derg]
Behcet Uz Cocuk Hast Derg. 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 Haemorrhage

Havva Yazıcı1, Ebru Canda1, Esra Er1, Baris Malbora2, Burcu Ozturk Hismi3, Huseyin Onay4, Serap Aksoylar5, Sema Kalkan Uçar1, Ferda Ozkinay4, Mahmut Çoker1
1Ege University Department of Pediatrics, Division of Metabolism and Nutrition, Izmir, Turkey
2Tepecik 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 haemorrhage


MPS Tip 1 Olgusunda Hematopoetik Kök Hücre Nakli Sonrası Mortal Komplikasyon: Pulmoner Hemoraji

Havva Yazıcı1, Ebru Canda1, Esra Er1, Baris Malbora2, Burcu Ozturk Hismi3, Huseyin Onay4, Serap Aksoylar5, Sema Kalkan Uçar1, Ferda Ozkinay4, Mahmut Çoker1
1Ege Üniversitesi Pediatrik Metabolizma ve Beslenme BD, İzmir
2Tepecik 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 hemoraji


Havva 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. Behcet Uz Cocuk Hast Derg. 2021; 11(2): 198-201

Corresponding Author: Havva Yazıcı, Türkiye


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