A Mortal Complication in a Case with Mucopolysaccharidosis Type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage

被引：0

作者：

Yazici, Havva ^{[1
]}

Canda, Ebru ^{[1
]}

Er, Esra ^{[1
]}

Malbora, Baris ^{[2
]}

Hismi, Burcu Ozturk ^{[3
]}

Onay, Huseyin ^{[4
]}

Aksoylar, Serap ^{[5
]}

Ucar, Sema Kalkan ^{[1
]}

Ozkinay, Ferda ^{[1
]}

Coker, Mahmut ^{[1
]}

机构：

[1] Ege Univ, Tip Fak, Pediat Metabolizma & Beslenme Bilim Dali, Izmir, Turkey

[2] Tepecik Egitim Arastirma Hastanesi, Pediatr Hematol Klin, Izmir, Turkey

[3] Tepecik Egitim Arastirma Hastanesi, Pediat Metabolizma & Beslenme Klin, Izmir, Turkey

[4] Ege Univ, Tip Fak, Tibbi Genet Anabilim Dali, Izmir, Turkey

[5] Ege Univ, Tip Fak, Pediat Hematol Bilim Dali, Izmir, Turkey

来源：

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI | 2021年 / 11卷 / 02期

关键词：

MPS I; HSCT; pulmonary haemorrhage; HURLER-SYNDROME;

D O I：

10.5222/buchd.2021.26539

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：198 / 201

页数：4

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