Multiple, Successful Pregnancies in Pompe Disease.

JIMD Rep 2016 17;28:111-118. Epub 2015 Nov 17.

Klinik für Gynäkologie, Charité-Universitätsmedizin Berlin, Campus Charité Mitte, Berlin, Germany.

Pompe disease is an autosomal recessive lysosomal storage disease characterized in adult patients by slowly progressive limb-girdle muscle weakness and respiratory insufficiency. Data on pregnancy in women with Pompe disease, intrauterine development of the fetus and parturition are rare. Here we describe a twin pregnancy followed by a second pregnancy in a 38-year-old female patient with Pompe disease. We report the impact of pregnancy on muscle and respiratory functions as well as the neurological and endocrine systems and discuss the medical consequences for anaesthetic management at parturition.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059215PMC
http://dx.doi.org/10.1007/8904_2015_518DOI Listing
November 2015
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References

(Supplied by CrossRef)

U Abildgaard et al.
Eur J Obstet Gynecol Reprod Biol 2013

ACMG Work Group on Management of Pompe Disease et al.
Genet Med 2006

N Ambrosino et al.
Respir Med 2013

S Bjornsdottir et al.
J Clin Endocrinol Metab 2010

HJ Cilliers et al.
Int J Obstet Anesth 2008

JM Vries de et al.
Mol Genet Metab 2011

JC Donnelly et al.
J Obstet Gynaecol 2003

C Fux Otta et al.
Fertil Steril 2008

I Halperin Rabinovich et al.
Endocrinol Nutr 2008

N Karabul et al.
Mol Genet Metab 2014

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