Pregnancy in patients with mucopolysaccharidosis:A case series
| Autor: | Stephen Sande, Fiona Stewart, Susan Hale, Zlatko Sisic, Pavan K. Kochhar, Nathalie Guffon, Ursula Plöckinger, Andrew Bentley, Barbara K. Burton, Tracey A. Johnston, Paul Harmatz, Sue Graham, Susanne Gerit Kircher, John J. Mitchell |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Pediatrics MPS Mucopolysaccharidoses (MPS) medicine.medical_treatment Mucopolysaccharidosis Case Report Hematopoietic stem cell transplantation Reproductive health and childbirth GAG glycosaminoglycan MPS mucopolysaccharidosis HSCT hematopoietic stem cell transplantation chemistry.chemical_compound Endocrinology Elosulfase alfa Pregnancy lcsh:QH301-705.5 media_common GAG Pediatric lcsh:R5-920 mucopolysaccharidosis Enzyme replacement therapy ERT enzyme replacement therapy Family planning HSCT hematopoietic stem cell transplantation ERT lcsh:Medicine (General) medicine.medical_specialty media_common.quotation_subject Intellectual and Developmental Disabilities (IDD) Fertility 03 medical and health sciences Rare Diseases Clinical Research medicine glycosaminoglycan Genetics Conditions Affecting the Embryonic and Fetal Periods Molecular Biology Fetus business.industry Contraception/Reproduction Perinatal Period - Conditions Originating in Perinatal Period Mucopolysaccharidoses medicine.disease Stem Cell Research Surgery Brain Disorders 030104 developmental biology Good Health and Well Being lcsh:Biology (General) chemistry Biochemistry and Cell Biology business |
| Zdroj: | Stewart, F J, Bentley, A, Burton, B K, Guffon, N, Hale, S L, Harmatz, P R, Kircher, S G, Kochhar, P K, Mitchell, J J, Plöckinger, U, Graham, S, Sande, S, Sisic, Z & Johnston, T A 2016, ' Pregnancy in patients with mucopolysaccharidosis : A case series ', Molecular Genetics and Metabolism Reports, vol. 8, pp. 111-115 . https://doi.org/10.1016/j.ymgmr.2016.08.002 Molecular Genetics and Metabolism Reports Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 111-115 (2016) Stewart, FJ, Bentley, A, Burton, BK, Guffon, N, Hale, SL, Harmatz, PR, Kircher, SG, Kochhar, PK, Mitchell, JJ, Plöckinger, U, Graham, S, Sande, S, Sisic, Z & Johnston, TA 2016, ' Pregnancy in patients with mucopolysaccharidosis: a case series. ', Molecular Genetics and Metabolism Reports . https://doi.org/10.1016/j.ymgmr.2016.08.002 |
| Popis: | The mucopolysaccharidoses (MPS disorders) are rare inherited diseases associated with multi-organ accumulation of glycosaminoglycans, leading to musculoskeletal, respiratory, cardiac, neurological, ophthalmological, otolaryngological, and gastrointestinal abnormalities. As a result of improvements in diagnosis, multi-disciplinary care, and therapies such as enzyme replacement therapy and hematopoietic stem cell transplantation, an increasing number of patients with MPS are reaching adulthood and are involved in family planning. Data on fertility and pregnancy outcome in MPS is sparse and comprises primarily isolated case reports. To address this evidence gap, we present a case series on fertility and pregnancy in eight mothers and five fathers with MPS. This case series demonstrates that women with MPS have high-risk pregnancies and deliveries secondary to their underlying disease. However, with appropriate pre-conceptual multi-disciplinary evaluation, optimization and discussion regarding potential risks, combined with regular multi-disciplinary maternal and fetal surveillance in a tertiary center, the outcome of most pregnancies in this case series seems to be favorable with all babies developing normally. Partners of fathers with MPS had uncomplicated pregnancies and deliveries. All children were healthy, with normal growth and development. |
| Databáze: | OpenAIRE |
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