Open AccessA Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage
Author(s) -
Havva Yazıcı,
Ebru Canda,
Esra Er,
Barış Malbora,
Burcu Hışmi,
Hüseyin Önay,
Serap Aksoylar,
Sema Kalkan Uçar,
Ferda Özkınay,
Mahmut Çöker
Publication year - 2021
Publication title -
i̇zmir dr.behçet uz çocuk hastanesi dergisi
Language(s) - English
Resource type - Journals
eISSN - 2146-2372
pISSN - 1309-9566
DOI - 10.5222/buchd.2021.26539
Subject(s) - mucopolysaccharidosis type i , enzyme replacement therapy , mucopolysaccharidosis , hematopoietic stem cell transplantation , complication , medicine , mucopolysaccharidosis i , haematopoiesis , transplantation , disease , genetic enhancement , lysosomal storage disease , stem cell , hurler syndrome , surgery , gene , biology , genetics
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.