Literature DB >> 26920904

Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I.

J Troko1, Y Poonawala2, T Geberhiwot3, B Martin2.   

Abstract

A 23-year-old primiparous lady (Ms S) was referred to preconception clinic with known Hurler-Scheie syndrome (mucopolysaccharidosis 1). Ms S had been under the care of the adult inherited metabolic disorder physicians prior to becoming pregnant. She and her partner received prenatal counselling and following spontaneous conception was closely managed by a multidisciplinary team involving foetomaternal obstetricians, anaesthetists, cardiologists, geneticists and endocrinologists in two tertiary referral hospitals throughout her pregnancy. She went on to deliver a live male child at 37/40 by elective caesarean section. As far as we are aware, this is the first case report of a term pregnancy in a woman with moderate to severe mucopolysaccharidosis 1 (MPS 1).

Entities:  

Year:  2016        PMID: 26920904      PMCID: PMC5110447          DOI: 10.1007/8904_2016_527

Source DB:  PubMed          Journal:  JIMD Rep        ISSN: 2192-8304


  9 in total

1.  Changes in pulmonary function during pregnancy: a longitudinal cohort study.

Authors:  G Grindheim; K Toska; M-E Estensen; L A Rosseland
Journal:  BJOG       Date:  2011-10-18       Impact factor: 6.531

2.  Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.

Authors:  S Wendt; C Whybra; C Kampmann; E Teichmann; M Beck
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

3.  Prevalence of back pain in pregnancy.

Authors:  H C Ostgaard; G B Andersson; K Karlsson
Journal:  Spine (Phila Pa 1976)       Date:  1991-05       Impact factor: 3.468

4.  Successful pregnancy and breastfeeding in a woman with mucopolysaccharidosis type I while receiving laronidase enzyme replacement. therapy.

Authors:  M Castorina; D Antuzzi; S M Richards; G F Cox; Y Xue
Journal:  Clin Exp Obstet Gynecol       Date:  2015       Impact factor: 0.146

Review 5.  Mucopolysaccharidosis type I: current knowledge on its pathophysiological mechanisms.

Authors:  Derbis Campos; Madelyn Monaga
Journal:  Metab Brain Dis       Date:  2012-04-14       Impact factor: 3.584

6.  Restrictive lung disease in pregnancy.

Authors:  Stephen E Lapinsky; Carolyn Tram; Sangeeta Mehta; Cynthia V Maxwell
Journal:  Chest       Date:  2014-02       Impact factor: 9.410

7.  Laryngeal oedema as an obstetric anaesthesia complication: case reports.

Authors:  R Jouppila; P Jouppila; A Hollmén
Journal:  Acta Anaesthesiol Scand       Date:  1980-04       Impact factor: 2.105

8.  The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK.

Authors:  David Moore; Martin J Connock; Ed Wraith; Christine Lavery
Journal:  Orphanet J Rare Dis       Date:  2008-09-16       Impact factor: 4.123

9.  Replacement Therapy for Gaucher Disease during Pregnancy: A Case Report.

Authors:  Stefano Raffaele Giannubilo; Angela Pasculli; Elisa Tidu; Andrea Ciavattini
Journal:  J Reprod Infertil       Date:  2015 Jan-Mar
  9 in total
  2 in total

Review 1.  Impact of pregnancy on inborn errors of metabolism.

Authors:  Gisela Wilcox
Journal:  Rev Endocr Metab Disord       Date:  2018-03       Impact factor: 6.514

2.  Pregnancy in patients with mucopolysaccharidosis: a case series.

Authors:  Fiona J Stewart; Andrew Bentley; Barbara K Burton; Nathalie Guffon; Susan L Hale; Paul R Harmatz; Susanne G Kircher; Pavan K Kochhar; John J Mitchell; Ursula Plöckinger; Sue Graham; Stephen Sande; Zlatko Sisic; Tracey A Johnston
Journal:  Mol Genet Metab Rep       Date:  2016-08-29
  2 in total

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