A Mortal Complication in a Case with Mucopolysaccharidosis Type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage
Makaleler > Tam Makale · 2021
Yazarlar: Havva YAZICI, Ebru CANDA, ESRA ER, Baris Malbora, Burcu Ozturk Hismi, HÜSEYİN ONAY, Serap AKSOYLAR, Sema KALKAN UÇAR, Feriştah Ferda ÖZKINAY, Mahmut ÇOKER
IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2021, cilt 11, ss 198-201
Özet
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease due to mutations within the gene IDUA encoding the "alpha-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.