Successful pregnancy outcome in a patient with Fabry disease


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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.

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作者简介

Olga 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 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 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 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 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 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 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

参考

  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.

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