Аннотация
Артрогрипоз является одной из наиболее тяжёлых патологий среди врождённых пороков развития опорно-двигательного аппарата. Этиология заболевания остается неясной, схема лечения определяется на основе клинических данных. Для усиления значимости клинических лабораторных исследований в диагностике необходимо лучше понимать механизмы развития патологии. Одним из многочисленных факторов, способствующих формированию не генетических форм артрогрипоза у человека, считаются внутриутробные инфекции (ВУИ), в частности, вирусной этиологии. В обзоре проанализированы работы, посвящённые связи возбудителей инфекций с развитием артрогрипоза. Рассмотрены этиология и клиническая лабораторная диагностика заболевания, продемонстрированы общие черты инфекций, провоцирующих развитие артрогрипоза не только у человека, но и у животных.
Annotation
Arthrogryposis is one of the most severe pathologies among congenital malformations of the musculoskeletal system. The etiology of the disease remains unclear, and the treatment regimen is determined on the basis of clinical data. To enhance the significance of clinical laboratory research in diagnosis, it is necessary to better understand the mechanisms of pathology development. One of the many factors contributing to the formation of non-genetic forms of arthrogryposis in humans are intrauterine infections (IUI), in particular viral etiology. The review analyzed the work on the relationship of infectious agents with the development of arthrogryposis. The etiology and clinical laboratory diagnostics of the disease are considered, the common features of infections that provoke the development of arthrogryposis not only in humans, but also in animals, are demonstrated.
Key words: arthrogryposis; contractures; akinesia; diagnostics; infections; Zika virus, review.
Список литературы
1.Kalampokas E., Kalampokas T., Sofoudis C., Deligeoroglou E., Botsis D. Diagnosing arthrogryposis multiplex congenita: a review. ISRN Obstet. Gynecol. 2012; 2012: 264918. DOI: 10.5402/2012/264918.
2.Bamshad M., Van Heest A.E., Pleasure D. Arthrogryposis: a review and update. J. Bone Joint. Surg. Am. 2009; 91 (4):40-6. DOI: 10.2106/JBJS.I.00281.
3.Pollazzon M., Caraffi S.G., Faccioli S., Rosato S., Fodstad H., Campos-Xavier B. et al. Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis. Genes (Basel). 2021; 13(1):29. DOI: 10.3390/genes13010029.
4.Baindurashvili A. G., Agranovich O. E., Konyukhov M. P. Current trends in treatment of upper and lower limb deformities in infants with arthrogryposis. Ortopediya, travmatologiya i vosstanovitel’naya khirurgiya detskogo vozrasta. 2014; 2(3):3-13. DOI: 10.17816/ptors233-13. (in Russian)
5.van der Linden V., Filho E.L., Lins O.G., van der Linden A., Aragão Mde F., Brainer-Lima A.M. et al. Congenital Zika syndrome with arthrogryposis: retrospective case series study. B.M.J. 2016; 354: i3899. DOI: 10.1136/bmj.i3899.
6.Fahy M.J., Hall J.G. A retrospective study of pregnancy complications among 828 cases of arthrogryposis. Genet. Couns. 1990; 1: 3–11.
7.Hall J.G., Kimber E., Dieterich K. Classification of arthrogryposis. Am. J. Med. Genet. C: Semin. Med. Genet. 2019, 181(3): 300-3. DOI: 10.1002/ajmg.c.31716.
8.Whittle J., Johnson A., Dobbs M.B., Gurnett C.A. Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome. Genes (Basel). 2021, 12(6): 943. DOI: 10.3390/genes12060943.
9.Valdés-Flores M., Casas-Avila L., Hernández-Zamora E., Kofman S., Hidalgo-Bravo A. Characterization of a group unrelated patients with arthrogryposis multiplex congenita. J. Pediatr. (Rio J.). 2016; 92(1):58-64. DOI: 10.1016/j.jped.2015.04.008.
10.Society for Maternal-Fetal Medicine; Rac M.W.F., McKinney J., Gandhi M. Arthrogryposis. Am. J. Obstet. Gynecol. 2019; 221(6):B7-B9. DOI: 10.1016/j.ajog.2019.09.021.
11.Kiefer J., Hall J.G. Geno ontology analysis of arthrogryposis (multiple congenital contractures). Am. J. Med. Genet. C: Semin. Med. Genet. 2019; 181:310–26. DOI: 10.1002/ajmg.c.31733.
12.Wynne-Davies R., Williams P.F., O’Connor J.C. The 1960s epidemic of arthrogryposis multiplex congenita: a survey from the United Kingdom, Australia and the United States of America. J. Bone Joint Surg. Br. 1981; 63-B(1):76-82. DOI: 10.1302/0301-620X.63B1.7204479.
13.Pike M.G., Applegarth D.A., Dunn H.G., Bamforth S.J., Tingle A.J., Wood B.J. et al. Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction. J. Pediatr. 1990; 116(1):88-94. DOI: 10.1016/s0022-3476(05)81651-8.
14.Wanders R.J.A., Klouwer F.C.C., Engelen M., Waterham H.R.; Peroxisomal Disorders. In: Blau N., Dionisi Vici C., Ferreira C.R., Vianey-Saban C., van Karnebeek C.D.M., eds. Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer, Cham. 2022: 1297-1317. DOI: 10.1007/978-3-030-67727-5_66.
15.Fallatah W., Schouten M., Yergeau C., Di Pietro E., Engelen M., Waterham H.R. et al. Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata. J. Inherit. Metab. Dis. 2021; 44(4):1021-38. DOI: 10.1002/jimd.12349.
16.Konstantinidou A., Anninos H., Spanakis N., Kotsiakis X., Syridou G., Tsakris A. et al. Transplacental infection of Coxsackievirus B3 pathological findings in the fetus. J. Med. Virol. 2007; 79(6):754-7. DOI: 10.1002/jmv.20887.
17.Schnabel R. Intrauterine Coxsackie-B-Infektion bei Arthrogryposis multiplex congenita-Syndrom [Intrauterine coxsackie B infection in arthrogryposis multiplex congenita syndrome]. Verh. Dtsch. Ges. Pathol. 1981; 65:311-5.
18.Luchaninova V.N., Rasskazova V.N., Bondar G.N., Ivashchenko V.P., Kolesnikov V.I., Rasskazova M.E. et al. Clinicopathologic profile of hiv-infected infants having a realised perinatal hivcontact and evaluation of treatment efficiency. Tikhookeanskiy meditsinskiy zhurnal. 2009; 4(38): 23-5. (in Russian)
19.Fraser S.H., O’Keefe R.J., Scurry J.P., Watkins A.M., Drew J.H., Chow C.W. Hydrocephalus ex vacuo and clasp thumb deformity due to congenital cytomegalovirus infection. J. Paediatr. Child. Health. 1994; 30(5): 450-2. DOI: 10.1111/j.1440-1754.1994.tb00701.x.
20.Liang B., Guida J.P., Costa Do Nascimento M.L., Mysorekar I.U. Host and viral mechanisms of congenital Zika syndrome. Virulence. 2019; 10(1):768-75. DOI: 10.1080/21505594.2019.1656503.
21.Melo A.S., Aguiar R.S., Amorim M.M., Arruda M.B., Melo F.O., Ribeiro S.T. et al. Congenital Zika Virus Infection: Beyond Neonatal Microcephaly. JAMA Neurol. 2016; 73(12): 1407-16. DOI: 10.1001/jamaneurol.2016.3720.
22.Freitas D.A., Souza-Santos R., Carvalho L.M.A., Barros W.B., Neves L.M., Brasil P. et al. Congenital Zika syndrome: A systematic review. PLoS One. 2020; 15(12):e0242367. DOI: 10.1371/journal. pone.0242367.
23.Chimelli L., Avvad-Portari E. Congenital Zika virus infection: a neuropathological review. Childs. Nerv. Syst. 2018; 34(1): 95-9. DOI: 10.1007/s00381-017-3651-3.
24.Serpa S.C., de Melo A.C.M.G., Gomes Lins O., van der Linden V., Leite Rolim Filho E., Oliveira Dos Santos A.C. Orthopedic findings in arthrogryposis and congenital Zika syndrome: A case series. Birth. Defects. Res. 2020; 112(5):385-92. DOI: 10.1002/bdr2.1641.
25.Song B.H., Yun S.I., Woolley M., Lee Y.M. Zika virus: History, epidemiology, transmission, and clinical presentation. J. Neuroimmunol. 2017; 15(308):50-64. DOI: 10.1016/j.jneuroim.2017.03.001.
26.Chimelli L., Melo A.S.O., Avvad-Portari E., Wiley C.A., Camacho A.H.S., Lopes V.S. et al. The spectrum of neuropathological changes associated with congenital Zika virus infection. Acta Neuropathol. 2017; 133(6): 983-99. DOI: 10.1007/s00401-017-1699-5.
27.Gorman M.J., Caine E.A., Zaitsev K., Begley M.C., Weger-Lucarelli J., Uccellini M.B. et al. An Immunocompetent Mouse Model of Zika Virus Infection. Cell Host Microbe. 2018; 23(5): 672-85.e6.DOI: 10.1016/j.chom.2018.04.003.
28.Leyser M., Fernandes A., Passos P., Pupe C., Matta A.P., Vasconcelos M.M. et al. Microcephaly and arthrogryposis multiplex congenita: The full-blown CNS spectrum in newborns with ZIKV infection. J. Neurol. Sci. 2017; 372:73-4. DOI: 10.1016/j.jns.2016.11.030.
29.Martins-Filho P.R., Souza Tavares C.S., Araújo Carvalho A.C., Reis M.C.D.S., Santos H.P.Jr., Santos V.S. Association Between Arthrogryposis and Mortality in Infants with Congenital Zika Syndrome: A Systematic Review and Meta-analysis. Pediatr. Neurol. 2020; 110: 20-4. DOI: 10.1016/j.pediatrneurol.2020.05.007.
30.da Silva Pone M.V., Moura Pone S., Araujo Zin A., Barros Mendes P.H., Senra Aibe M., Barroso de Aguiar E. et al. Zika virus infection in children: epidemiology and clinical manifestations. Childs. Nerv. Syst. 2018; 34(1):63-71. DOI: 10.1007/s00381-017-3635-3.
31.Swaminathan S., Schlaberg R., Lewis J., Hanson K.E., Couturier M.R. Fatal Zika Virus Infection with Secondary Nonsexual Transmission. N. Engl. J. Med. 2016; 375(19): 1907-9. DOI: 10.1056/NEJMc1610613.
32.Gavrilyuk V.P., Evseeva Y.V., Cherevko O.V., Severinov D.A.Distal Arthrogryposis in Newborn: Clinical Case. Voprosy sovremennoy pediatrii. 2020; 19(4):298-303. DOI: 10.15690/vsp.v19i4.2138. (in Russian)
33.Cirillo S., Regge D., Garagiola U., Tortarolo A., Iorio G.C., Spahiu O. et al. Arthrogryposis multiplex congenita with maxillofacial involvement: a case report. Maxillofac. Plast. Reconstr. Surg. 2023; 45:10. DOI: 10.1186/s40902-023-00378-6.
34.Rink B.D. Arthrogryposis: a review and approach to prenatal diagnosis. Obstet. Gynecol. Surv. 2011; 66(6):369-77. DOI: 10.1097/OGX.0b013e31822bf5bb.
35.Association of Traumatologists — Orthopedists of Russia. Diagnosis and treatment of congenital multiple arthrogryposis. Clinical recommendations. St. Petersburg; 2013. (in Russian)
36.Strupeneva U.À., Shabanova E.S., Shevchenko I.M. Case of distal arthrogryposis in the fetus. Prenatal’naya diagnostika. 2017; 16(1):38-43. (in Russian)
37.Kochenova E.A., Agranovich O.E., Savina M.V. Treatment of wrist deformities in children with arthrogryposis multiplex congenita. Ortopediya, travmatologiya I vosstanovitel`naya khirurgiya detskogo vozrasta. 2016; 4(1): 26-36. DOI: 10.17816/PTORS4126-36. (in Russian)
38.Normuradova N.M., Mazhidov B.B. Ultrasound technologies in the prenatal diagnosis of multiplex congenital arthrogryposis. Prenatal’naya diagnostika. 2020; 19(4):376-80. DOI: 10.21516/2413-1458-2020-19-4-376-380. (in Russian)
39.Filges I., Hall J.G. Failure to identify antenatal multiple congenital contractures and fetal akinesia-proposal of guidelines to improve diagnosis. Prenat. Diagn. 2013; 33:61-74. DOI: 10.1002/pd.4011.
40.Haliloglu G., Topaloglu H. Arthrogryposis and fetal hypomobility syndrome. Handbook of clinical. neurology. 2013; 113:1311-9. DOI: 10.1016/B978-0-444-59565-2.00003-4.
41.Duarte G., Moron A.F., Timerman A., Fernandes C.E., Mariani Neto C., Almeida Filho G.L. et al. Zika Virus Infection in Pregnant Women and Microcephaly. Rev. Bras. Ginecol. Obstet. 2017; 39(5):235-48. DOI: 10.1055/s-0037-1603450.
42.Uraki R., Jurado K.A., Hwang J., Szigeti-Buck K., Horvath T.L., Iwasaki A. et al. Fetal Growth Restriction Caused by Sexual Transmission of Zika Virus in Mice. J. Infect. Dis. 2017; 215(11):1720-4. DOI: 10.1093/infdis/jix204.
43.Wu K.Y., Zuo G.L., Li X.F., Ye Q., Deng Y.Q., Huang X.Y. et al. Vertical transmission of Zika virus targeting the radial glial cells affects cortex development of offspring mice. Cell Res. 2016; 26(6): 645-54. DOI: 10.1038/cr.2016.58.
44.Varela M., Schnettler E., Caporale M., Murgia C., Barry G., McFarlane M. Schmallenberg virus pathogenesis, tropism and interaction with the innate immune system of the host. PLoS Pathog. 2013; 9(1):e1003133. DOI: 10.1371/journal.ppat.1003133.
45.Tan L.Y., Komarasamy T.V., James W., Balasubramaniam V.R.M.T. Host Molecules Regulating Neural Invasion of Zika Virus and Drug Repurposing Strategy. Front. Microbiol. 2022; 13:743147. DOI: 10.3389/fmicb.2022.743147.
46.Chiramel A.I., Best S.M. Role of autophagy in Zika virus infection and pathogenesis. Virus. Res. 2018; 254:34-40. DOI: 10.1016/j. virusres.2017.09.006.
47.Shepherd N.C., Gee C.D., Jessep T., Timmins G., Carroll S.N., Bonner R.B. Congenital bovine epizootic arthrogryposis and hydranencephaly. Aust. Vet. J. 1978; 54(4): 171-7. DOI: 10.1111/j.1751-0813.1978.tb02441.x.
48.Edwards J.F., Livingston C.W., Chung S.I., Collisson E.C. Ovine arthrogryposis and central nervous system malformations associated with in utero Cache Valley virus infection: spontaneous disease. Vet. Pathol. 1989; 26(1):33-9. DOI: 10.1177/030098588902600106.
49.Kirkland P.D. Akabane virus infection. Rev. Sci. Tech. 2015; 34(2):403-10. DOI: 10.20506/rst.34.2.2366.
50.Alsaad K.M., Alautaish H.H.N., Alamery M.A.Y. Congenital arthrogryposis-hydranencephaly syndrome caused by Akabane virus in newborn calves of Basrah Governorate, Iraq. Vet. World. 2017; 10(9): 1143-8. DOI:10.14202/vetworld.2017.1143-1148.
51.König P., Wernike K., Hechinger S., Tauscher K., Breithaupt A., Beer M. Fetal infection with Schmallenberg virus — An experimental pathogenesis study in pregnant cows. Transbound. Emerg. Dis. 2019; 66(1):454-62. DOI:10.1111/tbed.13045.
52.Lievaart-Peterson K., Luttikholt S., Peperkamp K., Van den Brom R., Vellema P. Schmallenberg disease in sheep or goats: Past, present and future. Vet. Microbiol. 2015; 181(1-2): 147-53. DOI: 10.1016/j.vetmic.2015.08.005.
53.Herder V., Hansmann F., Wohlsein P., Peters M., Varela M., Palmarini M. et al. Immunophenotyping of inflammatory cells associated with Schmallenberg virus infection of the central nervous system of ruminants. PLoS One. 2013; 8(5): e62939. DOI: 10.1371/journal. pone.0062939.
54.Hirashima Y., Kitahara S., Kato T., Shirafuji H., Tanaka S., Yanase T. Congenital Malformations of Calves Infected with Shamonda Virus, Southern Japan. Emerg. Infect. Dis. 2017; 23(6):993-6. DOI: 10.3201/eid2306.161946.
55.Sprygin A.V., Kononov A.V., Babin Yu.Yu., Mishchenko V.A. Schmallenberg Virus Disease: Molecular Biology and Clinical Presentation (Review). Sel’skokhozyaistvennaya biologiya. 2012; 6:24-34. DOI: 10.15389/agrobiology.2012.6.24rus (in Russian)
56.Wernike K., Hoffmann B., Beer M. Schmallenberg virus. Dev. Biol (Basel). 2013; 135: 175-82. DOI: 10.1159/000312546.
57.Kul O., Kabakci N., Ozkul A., Kalender H., Atmaca H.T. Concurrent peste des petits ruminants virus and pestivirus infection in stillborn twin lambs. Vet. Pathol. 2008; 45(2): 191-6. DOI: 10.1354/vp.45-2-191.