Title |
Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation
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Published in |
Journal of Inherited Metabolic Disease, March 2017
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DOI | 10.1007/s10545-017-0034-6 |
Pubmed ID | |
Authors |
Su Han Lum, Karolina M. Stepien, Arunabha Ghosh, Alexander Broomfield, Heather Church, Jean Mercer, Simon Jones, Robert Wynn |
Abstract |
Premature death in untreated children with Hurler syndrome (HS) in the first decade of life is largely due to life-threatening cardiopulmonary complications. We examined the long-term survival and cardiopulmonary outcome in 54 children undergoing haematopoietic stem cell transplantation (HSCT) at the Royal Manchester Children's Hospital from 1985 to 2008. The median age at first HSCT was 15.1 months. Eighteen had graft failure and nine died after first HSCT. Of 18 patients with graft failure, 17 underwent second HSCT and the remaining one was lost to follow-up (LOF). Twelve were alive-and-engrafted after second HSCT. The overall survival at one year and 20-years was the same at 73.7%. Six children were followed up at the referral centers and excluded from cardiopulmonary endpoint review. Of the 33 evaluable children for the cardiopulmonary endpoints, nine (27.3%) had normal cardiac assessment. Of the four children on angiotensin-converting-enzyme inhibitors, two had mild cardiomyopathy and two had aortic valvular replacement. Twenty (60%) had mild/moderate mitral and/or aortic insufficiencies. Two had overnight hypoxia needing nocturnal non-invasive support. Enzyme level and donor chimerism are important predictors of long-term cardiac outcome. |
X Demographics
Geographical breakdown
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 40 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 7 | 18% |
Student > Bachelor | 5 | 13% |
Researcher | 4 | 10% |
Other | 3 | 8% |
Lecturer | 2 | 5% |
Other | 6 | 15% |
Unknown | 13 | 33% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 13 | 33% |
Biochemistry, Genetics and Molecular Biology | 4 | 10% |
Veterinary Science and Veterinary Medicine | 1 | 3% |
Unspecified | 1 | 3% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 3% |
Other | 6 | 15% |
Unknown | 14 | 35% |