Follow-up of nine patients with Hurler syndrome after bone marrow transplantation

被引:92
作者
Guffon, N
Souillet, G
Maire, I
Straczek, J
Guibaud, P
机构
[1] Hop Debrousse, Ctr Etud Malad Metab, F-69322 Lyon 05, France
[2] Hop Debrousse, Serv Hematoimmunol Pediat, F-69322 Lyon 05, France
[3] Hop Cent, Biochim Lab, Nancy, France
关键词
D O I
10.1016/S0022-3476(98)70201-X
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
We report our experience in nine patients with Hurler syndrome (six with a severe and three with an intermediate phenotype) who successfully engrafted after bone marrow transplantation. The donor was a human leukocyte antigen-identical sibling in six cases, the human leukocyte antigen-identical father in one case, and an unrelated donor in two cases. One patient with Hurler syndrome and an intermediate phenotype received two successive grafts from the same donor. There was a beneficial effect of bone marrow transplantation on visceral features (hepatosplenomegaly, obstruction of the upper airway, and coarse facies); however, dysostosis multiplex worsened. All patients but one required surgery for carpal tunnel syndrome. Visual acuity was low because of corneal clouding, and two patients had glaucoma several years after the graft. Five patients had normal hearing before graft that remained normal, and four had hearing impairment that improved. All patients had learning difficulties, but none had severe mental retardation (IQ ranging from 75 to 103). The follow-up of patients with severe Hurler syndrome engrafted for more than 10 years emphasizes the limits and benefits of bone marrow transplantation.
引用
收藏
页码:119 / 125
页数:7
相关论文
共 25 条
[1]  
Aronovich EL, 1996, AM J HUM GENET, V58, P75
[2]   NORMAL INTRAOCULAR-PRESSURE AFTER A BONE-MARROW TRANSPLANT IN GLAUCOMA ASSOCIATED WITH MUCOPOLYSACCHARIDOSIS TYPE I-H [J].
CHRISTIANSEN, SP ;
SMITH, TJ ;
HENSLEEDOWNEY, PJ .
AMERICAN JOURNAL OF OPHTHALMOLOGY, 1990, 109 (02) :230-231
[3]  
Downie C, 1995, CORRECTION OF GENETIC DISEASES BY TRANSPLANTATION III, P16
[4]  
DOWNIE C, 1991, CORRECTION GENETIC D, V2, P1
[5]   Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow [J].
Fairbairn, LJ ;
Lashford, LS ;
Spooncer, E ;
McDermott, RH ;
Lebens, G ;
Arrand, JE ;
Arrand, JR ;
Bellantuono, I ;
Holt, R ;
Hatton, CE ;
Cooper, A ;
Besley, GTN ;
Wraith, JE ;
Anson, DS ;
Hopwood, JJ ;
Dexter, TM .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (05) :2025-2030
[6]   BONE-MARROW TRANSPLANTATION IN HURLERS SYNDROME - EFFECT ON SKELETAL DEVELOPMENT [J].
FIELD, RE ;
BUCHANAN, JAF ;
COPPLEMANS, MGJ ;
AICHROTH, PM .
JOURNAL OF BONE AND JOINT SURGERY-BRITISH VOLUME, 1994, 76B (06) :975-981
[7]   Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease [J].
Germain, D ;
Biasotto, M ;
Tosi, M ;
Meo, T ;
Kahn, A ;
Poenaru, L .
HUMAN GENETICS, 1996, 98 (06) :719-726
[8]   ALPHA-L-IDURONIDASE ACTIVITY IN CULTURED SKIN FIBROBLASTS AND AMNIOTIC-FLUID CELLS [J].
HALL, CW ;
NEUFELD, EF .
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1973, 158 (02) :817-821
[9]  
HARRIS RE, 1996, CALL BONE MARROW TRA, P274
[10]  
HOBBS JR, 1981, LANCET, V2, P709