A Mortal Complication in a Case with Mucopolysaccharidosis Type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage
Articles > Article · 2021
Authors: 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, Journal Indexed in SCI Expanded, International, 2021, vol 11, pp 198-201
Summary
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.