Molecular Genetic Determinants of Pregnancy Pathology

Delmas, Y., Helou, S., Chabanier, P., Ryman, A., Pelluard, F., Carles, D., Boisseau, P., Veyradier, A., Horovitz, J., Coppo, P., and Combe, C., Incidence of obstetrical thrombotic thrombocytopenic purpura in a retrospective study within thrombocytopenic pregnant women. A difficult diagnosis and a treatable disease, BMC Pregnancy Childbirth, 2015, vol. 15, p. 137. https://doi.org/10.1186/s12884-015-0557-5

Article  CAS  PubMed  PubMed Central  Google Scholar 

Galstyan, G.M., Shmakov, R.G., Klebanova, E.E., Troitskaya, V.V., Dvirnyk, V.N., Surin, V.L., Pshenichnikova, O.S., Pozdnyakova, Y.M., Polushkina, E.S., Gaponova, T.V., Mamleeva, S.Y., Pyregov, A.V., Rogachevskiy, O.V., Sysoeva, E.P., and Tsvetaeva, N.V., Thrombotic thrombocytopenic purpura in pregnancy. Giving birth or not giving birth, that is the question, Gematol. Transfuziol., 2022, vol. 67, no. 1, pp. 42–61. https://doi.org/10.35754/0234-5730-2022-67-1-42-61

Article  Google Scholar 

Joly, B.S., Coppo, P., and Veyradier, A., Thrombotic thrombocytopenic purpura, Blood, 2017, vol. 129, no. 21, pp. 2836–2846. https://doi.org/10.1182/blood-2016-10-709857

Article  CAS  PubMed  Google Scholar 

Sadler, J.E., Pathophysiology of thrombotic thrombocytopenic purpura, Blood, 2017, vol. 130, no. 10, pp. 1181–1188. https://doi.org/10.1182/blood-2017-04-636431

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ferrari, B., Maino, A., Lotta, L.A., Artoni, A., Pontiggia, S., Trisolini, S.M., Malato, A., Rosendaal, F.R., and Peyvandi, F., Pregnancy complications in acquired thrombotic thrombocytopenic purpura: a case–control study, Orphanet J. Rare Dis, 2014, vol. 9, p. 193. https://doi.org/10.1186/s13023-014-0193-6

Article  PubMed  PubMed Central  Google Scholar 

Kentouche, K., Voigt, A., Schleussner, E., Schneppenheim, R., Budde, U., Beck, J.F., Stefanska-Windyga, E., and Windyga, J., Pregnancy in Upshaw−Schulman syndrome, Hämostaseologie, 2013, vol. 33, no. 02, pp. 144–148. https://doi.org/10.5482/HAMO-13-04-0025

Article  CAS  PubMed  Google Scholar 

Mariotte, E., Azoulay, E., Galicier, L., Rondeau, E., Zouiti, F., Boisseau, P., Poullin, P., de Maistre, E., Provôt, F., Delmas, Y., and Perez, P., Epidemiology and pathophysiology of adulthood-onset thrombotic microangiopathy with severe ADAMTS13 deficiency (thrombotic thrombocytopenic purpura): A cross-sectional analysis of the French national registry for thrombotic microangiopathy, Lancet Haematol., 2016, vol. 3, no. 5, pp. e237–245. https://doi.org/10.1016/S2352-3026(16)30018-7

Article  PubMed  Google Scholar 

Török, T.J., Holman, R.C., and Chorba, T.L., Increasing mortality from thrombotic thrombocytopenic purpura in the United States—Analysis of national mortality data, 1968–1991, Am. J. Hematol., 1995, vol. 50, no. 2, pp. 84–90. https://doi.org/10.1002/ajh.2830500203

Article  PubMed  Google Scholar 

Grigoreva, K.N., Bitsadze, V.O., Khizroeva, J.K., Tsibizova, V.I., Tretyakova, M.V., Blinov, D.V., Pankratyeva, L.L., Gashimova, N.R., Yakubova, F.E., Antonova, A.S., Gris, J.C., Elalami, I., and Makatsariya, A.D., Prognostic value of von Willebrand factor in clinical practice, Akush. Ginekol. Reprod., 2022, vol. 16, no. 5, pp. 588–599. https://doi.org/10.17749/2313-7347/ob.gyn.rep.2022.363

Article  Google Scholar 

Lotta, L.A., Wu, H.M., Mackie, I.J., Noris, M., Veyradier, A., Scully, M.A., Remuzzi, G., Coppo, P., Liesner, R., Donadelli, R., and Loirat, C., Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura, Blood, 2012, vol. 120, no. 2, pp. 440–448. https://doi.org/10.1182/blood-2012-01-403113

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tsai, H.M., Pathophysiology of thrombotic thrombocytopenic purpura, Int. J. Hematol., 2010, vol. 91, pp. 1–19. https://doi.org/10.1007/s12185-009-0476-1

Article  PubMed  PubMed Central  Google Scholar 

Roose, E., Schelpe, A.S., Joly, B.S., Peetermans, M., Verhamme, P., Voorberg, J., Greinacher, A., Deckmyn, H., De Meyer, S.F., Coppo, P., and Veyradier, A., An open conformation of ADAMTS-13 is a hallmark of acute acquired thrombotic thrombocytopenic purpura, J. Thromb. Haemostasis, 2018, vol. 16, no. 2, pp. 378–388. https://doi.org/10.1111/jth.13922

Article  CAS  Google Scholar 

South, K., Luken, B.M., Crawley, J.T., Phillips, R., Thomas, M., Collins, R.F., Deforche, L., Vanhoorelbeke, K., and Lane, D.A., Conformational activation of ADAMTS13, Proc. Natl. Acad. Sci. U. S. A., 2014, vol. 111, no. 52, pp. 18578–18583. https://doi.org/10.1073/pnas.1411979112

Article  CAS  PubMed  PubMed Central  Google Scholar 

Plaimauer, B., Fuhrmann, J., Mohr, G., Wernhart, W., Bruno, K., Ferrari, S., Konetschny, C., Antoine, G., Rieger, M., and Scheiflinger, F., Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation, Blood, 2006, vol. 107, no. 1, pp. 118–125. https://doi.org/10.1182/blood-2005-06-2482

Article  CAS  PubMed  Google Scholar 

Furlan, M., Deficient activity of von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura, Expert Rev. Cardiovasc. Ther., 2003, vol. 1, no. 2, pp. 243–255. https://doi.org/10.1586/14779072.1.2.243

Article  CAS  PubMed  Google Scholar 

South, K. and Lane, D.A., ADAMTS-13 and von Willebrand factor: a dynamic duo, J. Thromb. Haemostasis, 2018, vol. 16, no. 1, pp. 6–18. https://doi.org/10.1111/jth.13898

Article  CAS  Google Scholar 

Kremer Hovinga, J.A. and George, J.N., Hereditary thrombotic thrombocytopenic purpura, N. Engl. J. Med., 2019, vol. 381, no. 17, pp. 1653–1662. https://doi.org/10.1056/NEJMra1813013

Article  PubMed  Google Scholar 

Scully, M., Thomas, M., Underwood, M., Watson, H., Langley, K., Camilleri, R.S., Clark, A., Creagh, D., Rayment, R., Mcdonald, V., and Roy, A., Thrombotic thrombocytopenic purpura and pregnancy: presentation, management, and subsequent pregnancy outcomes, Blood, 2014, vol. 124, no. 2, pp. 211–219. https://doi.org/10.1182/blood-2014-02-553131

Article  CAS  PubMed  Google Scholar 

Taleghani, M.M., von Krogh, A.S., Fujimura, Y., George, J.N., Hrachovinova, I., Knöbl, P.N., Quist-Paulsen, P., Schneppenheim, R., Lämmle, B., and Hovinga, J.K., Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry, Hämostaseologie, 2013, vol. 33, no. 02, pp. 138–143. https://doi.org/10.5482/HAMO-13-04-0026

Article  CAS  Google Scholar 

Yamamoto, T., Fujimura, Y., Emoto, Y., Kuriu, Y., I-ino, M., and Matoba, R., Autopsy case of sudden maternal death from thrombotic thrombocytopenic purpura, J. Obstet. Gynaecol. Res., 2013, vol. 39, no. 1, pp. 351–354. https://doi.org/10.1111/j.1447-0756.2012.01941.x

Article  PubMed  Google Scholar 

Gupta, M., Feinberg, B.B., and Burwick, R.M., Thrombotic microangiopathies of pregnancy: Differential diagnosis, Pregnancy Hypertens., 2018, vol. 12, pp. 29–34. https://doi.org/10.1016/j.preghy.2018.02.007

Article  PubMed  Google Scholar 

Sánchez-Luceros, A., Farías, C.E., Amaral, M.M., Kempfer, A.C., Votta, R., Marchese, C., Salviú, M.J., Woods, A.I., Meschengieser, S.S., and Lazzari, M.A., von Willebrand factor-cleaving protease (ADAMTS13) activity in normal non-pregnant women, pregnant and post-delivery women, Thromb. Haemostasis, 2004, vol. 92, no. 12, pp. 1320–1326. https://doi.org/10.1160/TH03-11-0683

Article  CAS  Google Scholar 

Tanaka, H., Tenkumo, C., Mori, N., Kokame, K., Fujimura, Y., and Hata, T., Case of maternal and fetal deaths due to severe congenital thrombotic thrombocytopenic purpura (Upshaw–Schulman syndrome) during pregnancy, J. Obstet. Gynaecol. Res., 2014, vol. 40, no. 1, pp. 247–249. https://doi.org/10.1111/jog.12125

Article  PubMed  Google Scholar 

von Krogh, A.S., Hovinga, J.A., Tjønnfjord, G.E., Ringen, I.M., Lämmle, B., Waage, A., Quist-Paulsen, P., The impact of congenital thrombotic thrombocytopenic purpura on pregnancy complications, Thromb. Haemostasis, 2014, vol. 111, no. 06, pp. 1180–1183. https://doi.org/10.1160/TH13-08-0713

Article  CAS  Google Scholar 

Mitranovici, M.I., Pușcașiu, L., Oală, I.E., Petre, I., Craina, M.L., Mager, A.R., Vasile, K., Chiorean, D.M., Sabău, A.H., Turdean, S.G., and Cotoi, O.S., A race against the clock: a case report and literature review concerning the importance of ADAMTS13 testing in diagnosis and management of thrombotic thrombocytopenic purpura during pregnancy, Diagnostics, 2022, vol. 12, no. 7, p. 1559. https://doi.org/10.3390/diagnostics12071559

Article  PubMed  PubMed Central  Google Scholar 

Nonaka, T., Yamaguchi, M., Nishijima, K., Moriyama, M., Takakuwa, K., and Enomoto, T., A successfully treated case of an acute presentation of congenital thrombotic thrombocytopenic purpura (Upshaw–Schulman syndrome) with decreased ADAMTS13 during late stage of pregnancy, J. Obstet. Gynaecol. Res., 2021, vol. 47, no. 5, pp. 1892–1897. https://doi.org/10.1111/jog.14737

Article  CAS  PubMed  Google Scholar 

Sakai, K., Fujimura, Y., Nagata, Y., Higasa, S., Moriyama, M., Isonishi, A., Konno, M., Kajiwara, M., Ogawa, Y., Kaburagi, S., and Hara, T., Success and limitations of plasma treatment in pregnant women with congenital thrombotic thrombocytopenic purpura, J. Thromb. Haemostasis, 2020, vol. 18, no. 11, pp. 2929–2941. https://doi.org/10.1111/jth.15064

Article  CAS 

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