Clinical observation of a patient with thrombotic thrombocytopenic purpura with renal and intestinal lesions


Cite item

Full Text

Abstract

The article presents a brief description of a rare disease - thrombotic thrombocytopenic purpura (Moshkovits - disease), which is based on the deficiency of ADAMTS-13 metalloproteinase, leading to the development of thrombotic microangiopathy with the defeat of vital organs. The article also describes the clinical observation of a patient with the Moshkovits - disease. The features of the above observation are involvement in the pathological process of the kidneys and intestines, while in the classical descriptions of the disease there is a predominant lesion of the Central nervous system, as well as the genetic form of the disease.

About the authors

A G Stolyar

Sverdlovsk Regional Clinical Hospital No. 1

Email: ambr375@mail.ru
д.м.н., зав. отд-нием нефрологии ГБУЗ Свердловской области «Свердловская областная клиническая больница №1»; ORCID: 0000-0002-2485-9464 Yekaterinburg, Russia

P V Avdonin

Koltsov Institute of developmental biology

д.м.н., проф., руководитель лаб. физиологии рецепторов Института биологии развития им. Н.К. Кольцова Moscow, Russia

I E Valamina

Ural State Medical University

к.м.н., зав. гистологической лаб. Центральной научно-исследовательской лаборатории Уральского государственного медицинского университета Минздрава России Yekaterinburg, Russia

E S Stolyarevich

City Clinical Hospital No. 52; Evdokimov Moscow State University of Medicine and Dentistry

д.м.н., проф., патологоанатомическое отд-ние ГБУЗ «ГКБ №52» ДЗМ; каф. нефрологии МГМСУ им. А.И. Евдокимова Минздрава России Moscow, Russia

References

  1. Joly B.S, Coppo P, Veyradier A. Thrombotic thrombocytopenic purpura. Blood. 2017 May 25;129(21):2836-46 [Medline]. doi: 10.1182/blood-2016-10-709857
  2. Thrombotic thrombocytopenic purpura. https://emedicine.medscape.com/ article/206598-overview#a5 ссылка активна на 04.07.2018
  3. Moschcowitz E. https://en.wikipedia.org/wiki/Eli_Moschcowitz ссылка активна на 04.07.2018
  4. Moake J.L. Thrombotic microangiopathies. N Engl J Med. 2002;347(8):589-600. doi: 10.1056/NEJMra020528
  5. Benz K, Amann K. Pathological aspects of membranoproliferative glomerulonephritis (MPGN) and haemolytic uraemic syndrome (HUS) / thrombocytic thrombopenic purpura (TTP). Thromb Haemost. 2009;101:265-70. doi: 10.1160/TH07-12-0761
  6. Feng Y, Li X, Xiao J, Li W, Liu J, Zeng X, Chen X, Chen S. ADAMTS13: more than a regulator of thrombosis. Int J Hematol. 2016;104(5):534-9. doi: 10.1007/s 12185-016-2091-2
  7. Uemura M, Tatsumi K, Matsumoto M, Fujimoto M, Matsuyama T, Ishikawa M, Iwamoto TA, Mori T, Wanaka A, Fukui H, et al. Localization of ADAMTS13 to the stellate cells of human liver. Blood. 2005;106(3):922-4. doi: 10.1182/blood-2005-01-0152
  8. Fujimura Y, Matsumoto M, Yagi H, Yoshioka A, Matsui T, Titani K. Von Willebrand factor - cleaving protease and Upshaw-Schulman syndrome. Int J Hematol. 2002;75(1):25-34. doi: 10.1007/BF02981975
  9. Epperla N, Hemauer K, Friedman K.D, George J.N, Foy P. Congenital thrombotic thrombocytopenic purpura related to a novel mutation in ADAMTS13 gene and management during pregnancy. Am J Hematol. 2016;28(10):24311. doi: 10.1002/ ajh.24311
  10. Krabbe J.G, Kemna E.W, Strunk A.L, Jobse P.A, Kramer P.A, Dikkeschei L.D, van den Heuvel L.P, Fijnheer R, Verdonck L.F. Adult - onset congenital thrombotic thrombocytopenic purpura caused by a novel compound heterozygous mutation of the ADAMTS13 gene. Int J Hematol. 2015;102(4):477-81. doi: 10.1007/s12185-015-1849-2
  11. Kim H.Y, Lee K.O, Yoo K.H, Kim S.H, Oh D, Kim H.J. Congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) caused by novel ADAMTS13 mutations. Br J Haematol. 2016; Apr;173(1):156-9. doi: 10.1111/bjh.13564
  12. Ferrari B, Cairo A, Pontiggia S, Mancini I, Masini L, Peyvandi F. Congenital and acquired ADAMTS13 deficiency: two mechanisms, one patient. J Clin Apher. 2015;30(4):252-6. doi: 10.1002/jca.21366
  13. Benevides T.C, Orsi F.A, Colella M.P, Percout Pde O, Moura M.S, Dias M.A, Lins B.D, Paula E.V, Vassallo J, Annichino- Bizzachi J. Acquired thrombotic thrombocytopenic purpura due to antibody - mediated ADAMTS13 deficiency precipitated by a localized Castleman’s disease: a case report. Platelets. 2015;26(3):263-6. doi: 10.3109/09537104.2014.904504
  14. Mariotte E, Azoulay E, Galicier L, Rondeau E, Zouiti F, Boisseau P, Poullin P, de Maistre E, Provôt F, Delmas Y, Perez P, Benhamou Y, Stepanian A, Coppo P, Veyradier A. 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 May;3(5):e237-45 [Medline]. doi: 10.1016/S2352-3026(16)30018-7
  15. Miller D.P, Kaye J.A, Shea K, Ziyadeh N, Cali C, Black C, Walker A.M. Incidence of thrombotic thrombocytopenic purpura/hemolytic uremic syndrome. Epidemiology. 2004 Mar;15(2):208-15 [Medline]. doi: 10.1097/01.ede.000011327 3.14807.53

Copyright (c) 2019 Consilium Medicum

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
 
 


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies