A Mortal Complication in a Case with Mucopolysaccharidosis Type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage
Küçük Resim Yok
Tarih
2021
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Dr Behcet Uz Cocuk Hastaliklari Ve Cerrahisi
Erişim Hakkı
info:eu-repo/semantics/openAccess
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.
Açıklama
Anahtar Kelimeler
MPS I, HSCT, pulmonary haemorrhage, Hurler-Syndrome
Kaynak
Izmir Dr Behcet Uz Cocuk Hastanesi Dergisi
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
11
Sayı
2
