Прегравидарная подготовка и ведение беременности у пациенток с дисплазией соединительной ткани

Доброхотова Ю.Э., Боровкова Е.И. Прегравидарная подготовка и ведение беременности у пациенток с дисплазией соединительной ткани. Гинекология. 2017; 19 (5): 44–49. DOI: 10.26442/2079-5696_19.5.44-49

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Dobrokhotova Yu.E., Borovkova E.I. Pregravid preparation and management of pregnancy in patients with connective tissue dysplasia. Gynecology. 2017;
19 (5): 44–49. DOI: 10.26442/2079-5696_19.5.44-49

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Аннотация

Дисплазия соединительной ткани – это генетически детерминированное состояние, характеризующееся нарушением структурной организации и синтеза основных компонентов соединительной ткани. Распространенность несиндромных форм крайне высока и до 46,6–72,0% обусловлена кофакторным дефицитом магния. Типичными акушерскими осложнениями при синдроме Элерса–Данлоса являются кровотечение, раннее формирование истмико-цервикальной недостаточности, преждевременные и стремительные роды, задержка роста плода, симфизиопатия, разрыв лонного сочленения, разрыв промежности, спонтанные разрывы кожи, влагалища и внутренних органов, послеродовые кровотечения и несостоятельность мышц тазового дна, мочевого пузыря, уретры и прямой кишки. При синдроме Марфана в 40% случаев развиваются преждевременный разрыв плодных оболочек, преждевременные роды и невынашивание беременности на ранних сроках. Материнская смертность составляет 0,74 на 100 тыс. родов и ассоциирована с расслоением (1%) или разрывом аневризмы аорты (3%). При несиндромных формах дисплазии соединительной ткани на этапе прегравидарной подготовки и в течение всей беременности показано назначение препаратов магния.

Ключевые слова: дисплазия соединительной ткани, прегравидарная подготовка, беременность, магний, синдром Марфана, синдром Элерса–Данлоса, аневризма аорты, преждевременные роды.

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Connective tissue dysplasia is a genetically determined condition characterized by a violation of the structural organization and synthesis of the main components of connective tissue. The prevalence of non-syndromic forms is extremely high and to 46.6–72.0% is due to cofactor deficiency of magnesium. Typical obstetric complications in Ehlers–Danlos syndrome are bleeding, early formation of isthmicocervical insufficiciency, premature and rapid delivery, delayed fetal growth, symphysiopathy, rupture of the pubic joint, rupture of the perineum, spontaneous ruptures of the skin, vagina and internal organs, postpartum bleeding and incompetence of the pelvic floor muscles, bladder, urethra and rectum. Marfan syndrome in 40% of cases develop premature rupture of membranes, premature birth and miscarriage at an early age. Maternal mortality is 0.74 per 100 000 births and is associated with lamination (1%) or rupture of the aortic aneurysm (3%). With nonsynthetic forms of connective tissue dysplasia at the stage of pregravid preparation and throughout pregnancy, the appointment of magnesium preparations is indicated.

Key words: connective tissue dysplasia, pregravid preparation, pregnancy, magnesium, Marfan syndrome, Ehlers–Danlos syndrome, aortic aneurysm, premature birth.

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1. Tinkle BT, Bird HA, Grahame R et al. The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). Am J Med Genet A 2009; 149A: 2368.
2. Callewaert B, Malfait F, Loeys B, De Paepe A. Ehlers-Danlos syndromes and Marfan syndrome. Best Pract Res Clin Rheumatol 2008; 22: 165.
3. De Paepe A, Malfait F. The Ehlers-Danlos syndrome, a disorder with many faces. Clin Genet 2012; 82: 1.
4. Ritelli M, Dordoni C, Venturini M et al. Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis 2013; 8: 58.
5. Castori M, Morlino S, Ghibellini G et al. Connective tissue, Ehlers-Danlos syndrome(s), and head and cervical pain. Am J Med Genet C Semin Med Genet 2015; 169C: 84.
6. Donnelly RT, Pinto NM, Kocolas I, Yetman AT. The immediate and long-term impact of pregnancy on aortic growth rate and mortality in women with Marfan syndrome. J Am Coll Cardiol 2012; 60: 224.
7. Meijboom LJ, Vos FE, Timmermans J et al. Pregnancy and aortic root growth in the Marfan syndrome: a prospective study. Eur Heart J 2005; 26: 914.
8. Bonow RO, Carabello BA, Chatterjee K et al. 2008 Focused update incorporated into the ACC/AHA 2006 guidelines for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. Circulation 2008; 118: e523.
9. De Santis M, Straface G, Cavaliere AF et al. Gadolinium periconceptional exposure: pregnancy and neonatal outcome. Acta Obstet Gynecol Scand 2007; 86: 99.
10. http://www.marfan.org/resource/fact-sheet/family-planning-and-pregnancy#. VGzS9Y0o72d (Accessed on November 19, 2014).
11. Houston L, Tuuli M, Macones G. Marfan syndrome and aortic dissection in pregnancy. Obstet Gynecol 2011; 117: 956.
12. Meijboom LJ, Drenthen W, Pieper PG et al. Obstetric complications in Marfan syndrome. Int J Cardiol 2006; 110: 53.
13. Bodolay E, Csiki Z, Szekanecz Z et al. Five-year follow-up of 665 Hungarian patients with undifferentiated connective tissue disease (UCTD). Clin Exp Rheumatol 2003; 21: 313.
14. Mosca M, Tani C, Neri C et al. Undifferentiated connective tissue diseases (UCTD). Autoimmun Rev 2006; 6: 1.
15. Aringer M, Steiner G, Smolen JS. Does mixed connective tissue disease exist? Yes. Rheum Dis Clin North Am 2005; 31: 411.
16. Cappelli S, Bellando Randone S, Martinović D et al. "To be or not to be," ten years after: evidence for mixed connective tissue disease as a distinct entity. Semin Arthritis Rheum 2012; 41: 589.
17. Bodolay E, Szegedi G. Undifferentiated connective tissue disease. Orv Hetil 2009; 150: 867.
18. Greidinger EL, Hoffman RW. Autoantibodies in the pathogenesis of mixed connective tissue disease. Rheum Dis Clin North Am 2005; 31: 437.
19. Hojaili B, Barland P. Trigeminal neuralgia as the first manifestation of mixed connective tissue disorder. J Clin Rheumatol 2006; 12: 145.
20. Hajas A, Szodoray P, Barath S et al. Sensorineural hearing loss in patients with mixed connective tissue disease: immunological markers and cytokine levels. J Rheumatol 2009; 36: 1930.
21. Fujita Y, Fujii T, Nakashima R et al. Aseptic meningitis in mixed connective tissue disease: cytokine and anti-U1RNP antibodies in cerebrospinal fluids from two different cases. Mod Rheumatol 2008; 18: 184.
22. Bhinder S, Harbour K, Majithia V. Transverse myelitis, a rare neurological manifestation of mixed connective tissue disease – a case report and a review of literature. Clin Rheumatol 2007; 26: 445.
23. Pope JE. Other manifestations of mixed connective tissue disease. Rheum Dis Clin North Am 2005; 31: 519.
24. Lambova SN, Kuzmanova SI. Raynaud's phenomenon in common rheumatic diseases. Folia Med (Plovdiv) 2006; 48: 22.
25. Lundberg IE. The prognosis of mixed connective tissue disease. Rheum Dis Clin North Am 2005; 31: 535.
26. Haider BA, Bhutta ZA. Multiple-micronutrient supplementation for women during pregnancy. Cochrane Database Syst Rev 2017; 4: CD004905.
27. Vitamin supplementation in pregnancy. Drug Ther Bull 2016; 54: 81.
28. Dobrokhotova Iu.E., Borovkova E.I. Pregravidarnaia podgotovka: tseli, zadachi, vozmozhnosti. Effektivnaia farmakoterapiia. 2017; 1: 14–8. [in Russian]
29. Natsional'nye rekomendatsii po diagnostike, lecheniiu i reabilitatsii patsientov s displaziiami soedinitel'noi tkani. Pod red. A.I.Martynova, G.I.Nechaevoi. M.: Bionika Media, 2016. [in Russian]

Авторы

Ю.Э.Доброхотова, Е.И.Боровкова*

ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И.Пирогова» Минздрава России. 117997, Россия, Москва, ул. Островитянова, д. 1
*katyanikitina@mail.ru

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Yu.E.Dobrokhotova, E.I.Borovkova*

N.I.Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation. 117997, Russian Federation, Moscow, ul. Ostrovitianova, d. 1
*katyanikitina@mail.ru

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