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Expert Opinions on Managing Fertility and Pregnancy in Patients With Mucopolysaccharidosis
Stewart, Fiona; Bentley, Andrew; Burton, Barbara K; Guffon, Nathalie; Hale, Susan L.; Harmatz, Paul R.; Kircher, Susanne G.; Kochhar, Pavan K.; Mitchell, John J.; Plöckinger, Ursula; Semotok, Jennifer; Graham, Sue; Sande, Stephen; Sisic, Zlatko; Johnston, Tracey A..
  • Stewart, Fiona; Belfast City Hospital. Belfast. GB
  • Bentley, Andrew; University Hospital South Manchester. NHS Foundation Trust. Manchester. GB
  • Burton, Barbara K; Lurie Children's Hospital. Chicago. US
  • Guffon, Nathalie; Hôpital Femme Mère Enfants. Lyon. FR
  • Hale, Susan L.; Seattle Children's Hospital. Seattle. US
  • Harmatz, Paul R.; UCSF Benioff Children's Hospital Oakland. Oakland. US
  • Kircher, Susanne G.; Medical University of Vienna. Institute of Medical Genetics. Institute of Medical Chemistry. Vienna. AT
  • Kochhar, Pavan K.; Central Manchester University Hospitals. Manchester. GB
  • Mitchell, John J.; Montreal Children's Hospital. Montréal. CA
  • Plöckinger, Ursula; Charité Universitätsmedizin Berlin. Berlin. DE
  • Semotok, Jennifer; University Health Network. Adult Metabolic Genetics Clinic. Toronto. CA
  • Graham, Sue; BioMarin Pharmaceutical Inc. Novato. US
  • Sande, Stephen; BioMarin Pharmaceutical Inc. Novato. US
  • Sisic, Zlatko; BioMarin Europe Limited. London. GB
  • Johnston, Tracey A.; Birmingham Women's NHS Foundation Trust. Birmingham. GB
J. inborn errors metab. screen ; 4: e160029, 2016. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1090890
ABSTRACT
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.


Full text: Available Index: LILACS (Americas) Language: English Journal: J. inborn errors metab. screen Journal subject: Medicina Cl¡nica / Patologia Year: 2016 Type: Article Affiliation country: Austria / Canada / France / Germany / United States / United kingdom Institution/Affiliation country: Belfast City Hospital/GB / BioMarin Europe Limited/GB / BioMarin Pharmaceutical Inc/US / Birmingham Women's NHS Foundation Trust/GB / Central Manchester University Hospitals/GB / Charité Universitätsmedizin Berlin/DE / Hôpital Femme Mère Enfants/FR / Lurie Children's Hospital/US / Medical University of Vienna/AT / Montreal Children's Hospital/CA

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Full text: Available Index: LILACS (Americas) Language: English Journal: J. inborn errors metab. screen Journal subject: Medicina Cl¡nica / Patologia Year: 2016 Type: Article Affiliation country: Austria / Canada / France / Germany / United States / United kingdom Institution/Affiliation country: Belfast City Hospital/GB / BioMarin Europe Limited/GB / BioMarin Pharmaceutical Inc/US / Birmingham Women's NHS Foundation Trust/GB / Central Manchester University Hospitals/GB / Charité Universitätsmedizin Berlin/DE / Hôpital Femme Mère Enfants/FR / Lurie Children's Hospital/US / Medical University of Vienna/AT / Montreal Children's Hospital/CA