Cargando…
Pregnancy in patients with mucopolysaccharidosis: a case series
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 i...
Autores principales: | , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007877/ https://www.ncbi.nlm.nih.gov/pubmed/27622143 http://dx.doi.org/10.1016/j.ymgmr.2016.08.002 |
_version_ | 1782451284919451648 |
---|---|
author | Stewart, Fiona J. Bentley, Andrew Burton, Barbara K. Guffon, Nathalie Hale, Susan L. Harmatz, Paul R. Kircher, Susanne G. Kochhar, Pavan K. Mitchell, John J. Plöckinger, Ursula Graham, Sue Sande, Stephen Sisic, Zlatko Johnston, Tracey A. |
author_facet | Stewart, Fiona J. Bentley, Andrew Burton, Barbara K. Guffon, Nathalie Hale, Susan L. Harmatz, Paul R. Kircher, Susanne G. Kochhar, Pavan K. Mitchell, John J. Plöckinger, Ursula Graham, Sue Sande, Stephen Sisic, Zlatko Johnston, Tracey A. |
author_sort | Stewart, Fiona J. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5007877 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-50078772016-09-12 Pregnancy in patients with mucopolysaccharidosis: a case series Stewart, Fiona J. Bentley, Andrew Burton, Barbara K. Guffon, Nathalie Hale, Susan L. Harmatz, Paul R. Kircher, Susanne G. Kochhar, Pavan K. Mitchell, John J. Plöckinger, Ursula Graham, Sue Sande, Stephen Sisic, Zlatko Johnston, Tracey A. Mol Genet Metab Rep Case Report 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. Elsevier 2016-08-29 /pmc/articles/PMC5007877/ /pubmed/27622143 http://dx.doi.org/10.1016/j.ymgmr.2016.08.002 Text en © 2016 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Stewart, Fiona J. Bentley, Andrew Burton, Barbara K. Guffon, Nathalie Hale, Susan L. Harmatz, Paul R. Kircher, Susanne G. Kochhar, Pavan K. Mitchell, John J. Plöckinger, Ursula Graham, Sue Sande, Stephen Sisic, Zlatko Johnston, Tracey A. Pregnancy in patients with mucopolysaccharidosis: a case series |
title | Pregnancy in patients with mucopolysaccharidosis: a case series |
title_full | Pregnancy in patients with mucopolysaccharidosis: a case series |
title_fullStr | Pregnancy in patients with mucopolysaccharidosis: a case series |
title_full_unstemmed | Pregnancy in patients with mucopolysaccharidosis: a case series |
title_short | Pregnancy in patients with mucopolysaccharidosis: a case series |
title_sort | pregnancy in patients with mucopolysaccharidosis: a case series |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007877/ https://www.ncbi.nlm.nih.gov/pubmed/27622143 http://dx.doi.org/10.1016/j.ymgmr.2016.08.002 |
work_keys_str_mv | AT stewartfionaj pregnancyinpatientswithmucopolysaccharidosisacaseseries AT bentleyandrew pregnancyinpatientswithmucopolysaccharidosisacaseseries AT burtonbarbarak pregnancyinpatientswithmucopolysaccharidosisacaseseries AT guffonnathalie pregnancyinpatientswithmucopolysaccharidosisacaseseries AT halesusanl pregnancyinpatientswithmucopolysaccharidosisacaseseries AT harmatzpaulr pregnancyinpatientswithmucopolysaccharidosisacaseseries AT kirchersusanneg pregnancyinpatientswithmucopolysaccharidosisacaseseries AT kochharpavank pregnancyinpatientswithmucopolysaccharidosisacaseseries AT mitchelljohnj pregnancyinpatientswithmucopolysaccharidosisacaseseries AT plockingerursula pregnancyinpatientswithmucopolysaccharidosisacaseseries AT grahamsue pregnancyinpatientswithmucopolysaccharidosisacaseseries AT sandestephen pregnancyinpatientswithmucopolysaccharidosisacaseseries AT sisiczlatko pregnancyinpatientswithmucopolysaccharidosisacaseseries AT johnstontraceya pregnancyinpatientswithmucopolysaccharidosisacaseseries |