Successful pregnancy outcome in a patient with Fabry disease


Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

The paper describes a rare obstetric observation of the course of pregnancy in a patient with Fabry disease. Our demonstrated case illustrates diagnostic difficulties, the specif ic features of clinical manifestations and course of Fabry disease during pregnancy, as well as the possibility of a good outcome of this severe disease for the mother and fetus provided that its diagnosis is timely established and its effective treatment using enzyme replacement therapy performed.

Full Text

Restricted Access

About the authors

Olga Vladimirovna Khoroshkeeva

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

obstetrician-gynecologist of the Department of Pregnancy Loss Prevention and Therapy

Nana K. Tetruashvili

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: tetrauly@mail.ru
MD, Head of the Department of Pregnancy Loss Prevention and Therapy

Tatyana Valeryevna Kirsanova

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: a_tatya@mail.ru
Candidate of Medical Sciences, Senior Researcher, Department of Therapeutics

Anna A. Agadzhanova

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: tetrauly@mail.ru
MD, leading researcher of the Department of Pregnancy Loss Prevention and Therapy

Nataliya V. Sharashkina

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: n_sharashkina@oparina4.ru
Candidate of Medical Sciences, therapist, Department of Therapeutics

Nadezhda K. Runikhina

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: runishi@rambler.ru
MD, Professor, Head of the Therapeutic Department

Gennady Tikchonovich Sukhikh

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: g_sukhikh@oparina4.ru
MD, PhD, Professor, Director

References

  1. Министерство здравоохранения Российской Федерации. Федеральные клинические рекомендации по диагностике и лечению болезни Фабри. Проект 19.01.2013. М.; 2013
  2. Van der Tol L., Smid B.E., Poorthuis B.J., Biegstraaten M., Deprez R.H., Linthorst G.E., Hollak C.E. A systematic reviewon screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance J. Med. Genet. 2014; 51(1): 1-9
  3. Desnick R.J., Ioannou Y.A., Eng C.M. Alpha-galactosidase A deficiency: Fabry disease. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., Kinzler K.E., Vogelstein B., eds. The metabolic and molecular bases of inherited diseases. 8th ed. New York: McGraw-Hill; 2001: 3733-74
  4. Волгина С.Я. Болезнь Фабри: лекция для врачей общей практики. Практическая медицина. 2012; 7(62): 75-9
  5. Maier E.M., Osterrieder S., Whybra C., Ries M., Gal A., Beck M. et al. Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Paediatr. 2006; 95 (Suppl.451): 30-8
  6. Dehout F., Roland D., Henry F., Langlois A., Van Maldergem L. Successful pregnancy in a patient with Fabry disease receiving enzyme replacement therapy. Acta Paediatr. 2006; 95(Suppl.451): 137-8.
  7. Kalkum G., Macchiella D., Reinke J., Kölbl H., Beck M. Enzyme replacement therapy with agalsidase alfa in pregnant women with Fabry disease. Eur. J. Obstet. Gynecol. Reprod. Biol. 2009; 144(1): 92-6.
  8. Wendt S., Whybra C., Kampmann C., Teichmann E., Beck M. Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa. J. Inherit. Metab. Dis. 2005; 28(5): 787-8.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c) 2014 Bionika Media