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Expert Opinions on Managing Fertility and Pregnancy in Patients With Mucopolysaccharidosis

Authors :
Fiona Stewart MB, BS
Andrew Bentley MD
Barbara K Burton MD
Nathalie Guffon MD
Susan L. Hale MN, ARNP
Paul R. Harmatz MD
Susanne G. Kircher MD
Pavan K. Kochhar MD
John J. Mitchell MD
Ursula Plöckinger MD
Jennifer Semotok MSc, PhD
Sue Graham MSc
Stephen Sande PhD
Zlatko Sisic MD
Tracey A. Johnston MD
Source :
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
Publication Year :
2016
Publisher :
SciELO, 2016.

Abstract

The mucopolysaccharidosis (MPS) disorders are rare genetic diseases caused by deficiencies in lysosomal enzymes involved in the degradation of glycosaminoglycans, leading to pulmonary, cardiac and neurological dysfunctions, skeletal anomalies, impaired vision, and/or hearing and shortened life spans. Whereas in the past, few individuals with MPS reached adulthood, better diagnosis, multidisciplinary care, and new therapies have led to an increasing number of adult patients with MPS. Therefore, fertility and pregnancy questions in this patient population are becoming more important. Management of fertility issues and pregnancy in patients with MPS is challenging due to the lack of documented cases and a dearth in the literature on this topic. This review presents multidisciplinary expert opinions on managing fertility and pregnancy based on case studies and clinical experience presented at a meeting of MPS specialists held in Berlin, Germany, in April 2015. An overview of the existing literature on this subject is also included.

Subjects

Subjects :
Medicine (General)
R5-920

Details

Language :
English
ISSN :
23264594 and 23264098
Volume :
4
Database :
Directory of Open Access Journals
Journal :
Journal of Inborn Errors of Metabolism and Screening
Publication Type :
Academic Journal
Accession number :
edsdoj.88cc6463f86e47efa9e1e16fd5f5f9fd
Document Type :
article
Full Text :
https://doi.org/10.1177/2326409816669375