Table of Contents

HK J Paediatr (New Series)
Vol 19. No. 1, 2014

HK J Paediatr (New Series) 2014;19:32-36

Case Report

Unrelated Cord Blood Transplantation in a Pair of Siblings with X-linked Severe Combined Immunodeficiency: The Case for Early Diagnosis and Transplant
一對患有X─連鎖重症複合免疫缺陷的兄弟接受非親緣性臍帶血移植─早期診斷和移植的病例

PYT Chan, MHK Ho, DKL Cheuk, TL Lee, SY Ha, YL Lau


Abstract

Haematopoietic stem cell transplantation is a curative therapy for severe combined immunodeficiency (SCID) after the first success forty years ago. We report a pair of Chinese siblings with X-linked SCID who had very different transplant outcomes. The elder brother was diagnosed late and had multiple infections before transplant. He developed severe graft-versus- host- disease and life-threatening haemolytic anaemia. He died from overwhelming septicaemia. The younger brother, who was diagnosed at birth and infection-free before transplant, underwent an uneventful transplant. Early transplant within the first 3 months of life results in over 90% disease-free survival. Newborn screening is now being pursued to achieve this goal.

造血幹細胞移植是治療患有重症複合免疫缺陷(SCID)的兒童的根治性治療方法。第一例成功移植是在40年前。我們報導一對患有X-連鎖重症複合免疫缺陷的兄弟,在接受造血幹細胞移植後有非常不同的結果。胞兄確診時間較遲,在接受移植前發生多重感染,在接受移植後出現嚴重的移植物抗宿主病和致命的溶血性貧血,後死於敗血症。胞弟在出生時已確診此病症,在移植前未受任何感染,移植過程順利。患兒在出生後3個月內進行移植,無疾病存活期可高達90%以上。目前來說,進行新生兒篩查可達到這個目標。

Keyword : Haematopoietic stem cell transplantation; Haemolytic anaemia; Pneumatosis intestinalis; Severe combined immunodeficiency; Transplant outcome

關鍵詞:造血幹細胞移植、溶血性貧血、腸壁積氣、嚴重複合免疫缺陷、移植結果

 
 

This web site is sponsored by Johnson & Johnson (HK) Ltd.
©2022 Hong Kong Journal of Paediatrics. All rights reserved. Developed and maintained by Medcom Ltd.