Various phenotypes of postpartum atypical hemolytic uremic syndrome: the role of genetic testing in determining prognosis. Case report
- 作者: Kirsanova T.1, Balakireva A.2, Fedorova T.1, Pyregov A.1, Rogachevskiy O.1
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隶属关系:
- Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
- Lomonosov Moscow State University
- 期: 卷 95, 编号 6 (2023)
- 页面: 511-515
- 栏目: Clinical notes
- URL: https://journals.rcsi.science/0040-3660/article/view/133113
- DOI: https://doi.org/10.26442/00403660.2023.06.202233
- ID: 133113
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We report a case of atypical hemolytic uremic syndrome (aHUS) that occurred after childbirth in a patient with a history of numerous recurrent episodes of TMA with nephrotic proteinuria and impaired renal function. At 33 weeks of the first spontaneous pregnancy, proteinuria up to 0.8 g/l was first registered, at 38 weeks she was hospitalized with proteinuria, reaching a maximum of 13 g/l, she was delivered promptly, after which progressive thrombocytopenia was noted over the next few days (up to 44×109/l) and anemia and severe arterial hypertension, which could not be corrected by several groups of antihypertensive drugs. Initiated plasma therapy had no effect. After exclusion of all other causes of TMA, therapy with eculizumab was initiated, which made it possible to quickly and completely stop the phenomena of TMA. The presented observation demonstrates the successful treatment of recurrent course of aHUS with eculizumab with the achievement of complete recovery of kidney function in a patient with a homozygous mutation in the MCP gene. It is worth noting the importance of genetic research even in those situations where clinically aHUS is beyond doubt.
作者简介
Tatiana Kirsanova
Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
编辑信件的主要联系方式.
Email: a_tatya@mail.ru
ORCID iD: 0000-0002-6125-590X
канд. мед. наук, вед. науч. сотр. ин-та анестезиологии-реаниматологии и трансфузиологии ФГБУ «НМИЦ АГП им. В.И. Кулакова»
俄罗斯联邦, MoscowAlina Balakireva
Lomonosov Moscow State University
Email: a_tatya@mail.ru
ORCID iD: 0000-0003-0362-580X
аспирант фак-та фундаментальной медицины ФГБОУ ВО «МГУ им. М.В. Ломоносова»
俄罗斯联邦, MoscowTatiana Fedorova
Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
Email: a_tatya@mail.ru
ORCID iD: 0000-0001-6883-4456
д-р мед. наук, проф., зав. отд. трансфузиологии и экстракорпоральной гемокоррекции ФГБУ «НМИЦ АГП им. акад. В.И. Кулакова»
俄罗斯联邦, MoscowAleksei Pyregov
Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
Email: a_tatya@mail.ru
ORCID iD: 0000-0001-8382-9671
д-р мед. наук, проф., дир. ин-та анестезиологии-реаниматологии и трансфузиологии, зав. каф. анестезиологии и реаниматологии ФГБУ «НМИЦ АГП им. акад. В.И. Кулакова»
俄罗斯联邦, MoscowOleg Rogachevskiy
Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
Email: a_tatya@mail.ru
ORCID iD: 0000-0001-9847-5765
д-р мед. наук, проф., зав. отд. экстракорпоральных методов лечения и детоксикации ФГБУ «НМИЦ АГП им. акад. В.И. Кулакова»
俄罗斯联邦, Moscow参考
- Moake JL. Thrombotic microangiopathies. N Engl J Med. 2002;347(8):589-600. doi: 10.1056/NEJMra020528
- de Cordoba SR, Tortajada A, Harris CL, Morgan BP. Complement dysregulation and disease: from genes and proteins to diagnostics and drugs. Immunobiology. 2012;217(11):1034-46. doi: 10.1016/j.imbio.2012.07.021
- Noris M, Brioschi S, Caprioli J, et al. Familial haemolytic uraemic syndrome and an MCP mutation. Lancet. 2003;362(9395):1542-7. doi: 10.1016/S0140-6736(03)14742-3
- Pérez-Caballero D, González-Rubio C, Gallardo ME, et al. Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome. Am J Hum Genet. 2001;68(2):478-84. doi: 10.1086/318201
- Richards A, Kemp EJ, Liszewski MK, et al. Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. Proc Natl Acad Sci USA. 2003;100(22):12966-71. doi: 10.1073/pnas.2135497100
- Warwicker P, Goodship TH, Donne RL, et al. Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney Int. 1998;53(4):836-44. doi: 10.1111/j.1523-1755.1998.00824.x
- Esparza-Gordillo J, Goicoechea de Jorge E, Buil A, et al. Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. Hum Mol Genet. 2005;14(5):703-12. doi: 10.1093/hmg/ddi066
- Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, et al. Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. J Med Genet. 2004;41(6):e84. doi: 10.1136/jmg.2004.019083
- Frémeaux-Bacchi V, Miller EC, Liszewski MK, et al. Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood. 2008;112(13):4948-52. doi: 10.1182/blood-2008-01-133702
- Goicoechea de Jorge E, Harris CL, Esparza-Gordillo J, et al. Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci USA. 2007;104(1):240-5. doi: 10.1073/pnas.0603420103
- Feitz WJ, van de Kar NC, Orth-Höller D, et al. The genetics of atypical hemolytic uremic syndrome. Med Genet. 2018;30(4):400-9. doi: 10.1007/s11825-018-0216-0
- Quaggin SE. DGKE and atypical HUS. Nat Genet. 2013;45(5):475-6. doi: 10.1038/ng.2622
- de Córdoba SR. Complement genetics and susceptibility to inflammatory disease. Lessons from genotype-phenotype correlations. Immunobiology. 2016;221(6):709-14. doi: 10.1016/j.imbio.2015.05.015
- Nester CM, Barbour T, de Cordoba SR, et al. Atypical aHUS: State of the art. Mol Immunol. 2015;67(1):31-42. doi: 10.1016/j.molimm.2015.03.246
- Kearney HM, Thorland EC, Brown KK, et al. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a
- Kaplan BS, Meyers KE, Schulman SL. The pathogenesis and treatment of hemolytic uremic syndrome. J Am Soc Nephrol. 1998;9(6):1126-33. doi: 10.1681/ASN.V961126
- Noris M, Remuzzi G. Hemolytic uremic syndrome. J Am Soc Nephrol. 2005;16(4):1035-50. doi: 10.1681/ASN.2004100861
- Sellier-Leclerc AL, Fremeaux-Bacchi V, Dragon-Durey MA, et al. Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2007;18(8):2392-400. doi: 10.1681/ASN.2006080811
- Constantinescu AR, Bitzan M, Weiss LS, et al. Non-enteropathic hemolytic uremic syndrome: causes and short-term course. Am J Kidney Dis. 2004;43(6):976-82. doi: 10.1053/j.ajkd.2004.02.010
- Ariceta G, Besbas N, Johnson S, et al. Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome. Pediatr Nephrol. 2009;24(4):687-96. doi: 10.1007/s00467-008-0964-1
- Noris M, Caprioli J, Bresin E, et al. Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clin J Am Soc Nephrol. 2010;5(10):1844-59. doi: 10.2215/CJN.02210310
- Davin JC, Buter N, Groothoff J, et al. Prophylactic plasma exchange in CD46-associated atypical haemolytic uremic syndrome. Pediatr Nephrol. 2009;24(9):1757-60. doi: 10.1007/s00467-009-1188-8
- Matsukuma E, Gotoh Y, Kuroyanagi Y, et al. A case of atypical hemolytic uremic syndrome due to anti-factor H antibody in a patient presenting with a factor XII deficiency identified two novel mutations. Clin Exp Nephrol. 2011;15(2):269-74. doi: 10.1007/s10157-010-0375-z
- Кирсанова Т.В., Козловская Н.Л., Калашникова Л.А., и др. Особенности поражения почек у больного с синдромом Снеддона. Терапевтический архив. 2009;81(8):73-7 [Kirsanova TV, Kozlovskaya NL, Kalashnikova LA, et al. Renal affection in a patient with Sneddon's syndrome. Terapevticheskii Arkhiv (Ter. Arkh.). 2009;81(8):73-7 (in Russian)].
- Шилов Е.М., Козловская Н.Л., Метелева Н.А., и др. Клинические проявления нефропатии, связанной с антифосфолипидным синдромом, при первичном антифософлипидном синдроме. Терапевтический архив. 2003;75(6):22-8 [Shilov EM, Kozlovskaya NL, Meteleva NA, et al. Clinical manifestations of nephropathy associated with antiphospholipid syndrome in primary antiphosphoflipid syndrome. Terapevticheskii Arkhiv (Ter. Arkh.). 2003;75(6):22-8 (in Russian)].
- Makanjuola AD, Scoble JE. Ischaemic nephropathy – is the diagnosis excluded by heavy proteinuria? Nephrol Dial Transplant. 1999;14(12):2795-7. doi: 10.1093/ndt/14.12.2795
- Huerta A, Arjona E, Portoles J, et al. A retrospective study of pregnancy-associated atypical hemolytic uremic syndrome. Kidney Int. 2018;93(2):450-9. doi: 10.1016/j.kint.2017.06.022
- Kulagin A, Ptushkin V, Lukina E, et al. Randomized multicenter noninferiority phase III clinical trial of the first biosimilar of eculizumab. Ann Hematol. 2021;100(11):2689-98. doi: 10.1007/s00277-021-04624-7
- Kulagin A, Ptushkin V, Lukina E, et al. Phase III clinical trial of Elizaria® and Soliris® in adult patients with paroxysmal nocturnal hemoglobinuria: results of comparative analysis of efficacy, safety, and pharmacological data. Blood. 2019;134(Suppl. 1):3748. doi: 10.1182/blood-2019-125693
- Птушкин В.В., Кулагин А.Д., Лукина Е.А., и др. Результаты открытого многоцентрового клинического исследования Ib фазы по оценке безопасности, фармакокинетики и фармакодинамики первого биоаналога экулизумаба у нелеченых пациентов с пароксизмальной ночной гемоглобинурией в фазе индукции терапии. Терапевтический архив. 2020;92(7):77-84 [Ptushkin VV, Kulagin AD, Lukina EA, et al. Results of phase Ib open multicenter clinical trial of the safety, pharmacokinetics and pharmacodynamics of first biosimilar of eculizumab in untreated patients with paroxysmal nocturnal hemoglobinuria during induction of therapy. Terapevticheskii Arkhiv (Ter. Arkh.). 2020;92(7):77-84 (in Russian)]. doi: 10.26442/00403660.2020.07.000818
- Коротчаева Ю.В., Козловская Н.Л., Шифман Е.М. Сравнительный анализ эффективности препаратов экулизумаба в лечении акушерского атипичного гемолитико-уремического синдрома. Клиническая фармакология и терапия. 2021;30(3):25-30 [Korotchaeva YV, Kozlovskaya N., Shifman EM. Comparative efficacy of the original and biosimilar eculizumab in the treatment of obstetric atypical hemolytic-uremic syndrome. Clinical Pharmacology and Therapy. 2021;30(3):25-30 (in Russian)]. doi: 10.32756/0869-5490-2021-3-25-30