The prevalence of phakomatoses in Western Siberia

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Objective. Evaluation of the prevalence of phakomatoses, features of clinical manifestations of diseases classified in the 10th revision of the International Statistical Classification of Diseases and Related Health Problems under the heading «Phakomatoses», not classified in other headings (Q85), in the population of the Novosibirsk region, including Novosibirsk.

Methods. Retrospective analysis of proband maps with an established clinical diagnosis, included in the group of phakomatoses: Q85.0 Neurofibromatosis (non-malignant), Recklinghausen’s disease, Q85.1 Tuberous sclerosis (Bourneville’s disease, Epiloia), Q85.8 other phakomatoses, not elsewhere classified (Syndromes: Peutz-Jeghers, Strudge-Weber, Hippel-Lindau) at the Clinical Department of the Medical Genetic Center (MGC) of Clinical Center for Family Health and Reproduction for 12 years (from 2010 to 2022) was performed. Diagnoses of specific phakomatosis, were made using diagnostic criteria recommended by the International Committee of Experts on Specific Nosology.

Results. Over the past 12 years, the following cases have been followed-up in the MGC: Q85.0 Neurofibromatosis (non-malignant), Recklinghausen’s disease – 118 probands, taking into account sick relatives (93 people) – a total of 211 patients; the prevalence in Novosibirsk and the region is 1: 13242; Q85.1 Tuberous sclerosis (Bourneville’s disease, Epiloia) – 44 probands, including sick relatives (15 people) – a total of 59 patients, prevalence in Novosibirsk and the region – 1:47,000 inhabitants; Q85.8 Other phakomatoses, not elsewhere classified: Peutz-Jeghers syndrome – 8 patients, all cases were sporadic, prevalence in Novosibirsk and the region – 1:349 283, Stradzh-Weber syndrome (more often called Sturge-Weber in the literature) – 15 patients, all cases were sporadic, the prevalence in Novosibirsk and the region was 1:186,284 residents, the Hippel–Lindau syndrome – 3 sporadic cases, the prevalence in Novosibirsk and the region was 1:9440.

Conclusion. Phakomatoses are polysystemic diseases that require a systematic approach to diagnosis and correction. The prevalence of type 1 neurofibromatosis in Novosibirsk and the region is 1:13 242, tuberous sclerosis – 1:47 000, Peitz-Jeghers – 1:349 283, Stradzh-Weber – 1:186 284, Hippel-Lindau – 1:931 422 The total prevalence of phakomatoses in Novosibirsk and the region is 1:9440.

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Sobre autores

Y. Maximova

Clinical Center for Family Health and Reproduction; Novosibirsk State Medical University

Email: elene-elene@bk.ru
ORCID ID: 0000-0002-9094-1714
Rússia, Novosibirsk; Novosibirsk

N. Chupyrko

Novosibirsk State Medical University

Email: elene-elene@bk.ru
Rússia, Novosibirsk

M. Vasilyeva

Clinical Center for Family Health and Reproduction; Novosibirsk State Medical University

Email: elene-elene@bk.ru
ORCID ID: 0000-0001-5990-9209
Rússia, Novosibirsk; Novosibirsk

V. Garny

Novosibirsk State Medical University

Email: elene-elene@bk.ru
ORCID ID: 0000-0002-2223-7039
Rússia, Novosibirsk

V. Maximov

Clinical Center for Family Health and Reproduction; Novosibirsk State Medical University

Email: elene-elene@bk.ru
ORCID ID: 0000-0002-7165-4496
Rússia, Novosibirsk; Novosibirsk

Elena Svechnikova

Polyclinic № 1 of the Administrative Department of the President of the Russian Federation; Russian Biotechnological University

Autor responsável pela correspondência
Email: elene-elene@bk.ru
ORCID ID: 0000-0002-5885-4872

Dr. Sci. (Med.), Professor at the Department of Skin and Venereal Diseases; Head of the Department of Dermatovenereology and Cosmetology

Rússia, Moscow; Moscow

Bibliografia

  1. Суворова К.Н., Антоньев А.А. Наследственные дерматозы. М., 1977. 232 с. [Suvorova K.N., Antoniev A.A. Hereditary dermatoses. M., 1977. 232 p. (In Russ.)].
  2. Мордовцев В.Н., Мордовцева В.В., Мордовцева В.В. Наследственные болезни и пороки развития кожи»: Атлас. М., 2004. 174 с. [Mordovtsev V.N., Mordovtseva V.V., Mordovtseva V.V. Hereditary diseases and malformations of the skin. Atlas. M., 2004. 174 p. (In Russ.)].
  3. Суколин Г.И. Клиника наследственных дерматозов. Атлас-справочник. М., 2014. 311 с. [Sukolin G.I. Clinic of hereditary dermatoses. Atlas-reference. M., 2014. 311 p. (In Russ.)].
  4. Хегер Петер Г. Детская дерматология. Пер. с нем. под ред. А.А. Кубановой, А.Н. Львова. М., 2013. 648 с. [Hoger Peter G. Pediatric Dermatology. Translation from German. Ed. by A.A. Kubanova, A.N. Lvov. M., 2013. 648 p. (In Russ.)].
  5. Van der Hoeve J. Eine vierte Phakomatose. Ber Ophthal Ges. 1936;51:136.
  6. Суворова К.Н., Антоньев Д.А., Гребенников В.А. Генетически обусловленная патология кожи. Ростов-на-Дону, 1990. 335 с. [Suvorova K.N., Antoniev D.A., Grebennikov V.A. Genetically determined skin pathology. Rostov-on-Don, 1990. 335 p. (In Russ.)].
  7. Garty B.Z., Laor A., Danon Y.L. Neurofibromatosis type 1 in Israel: survey of young adults. J Med Genet. 1994;31(11):853–7. doi: 10.1136/jmg.31.11.853.
  8. Амелина С.С., Ветрова Н.В., Дегтерева Е.В. и др. Разнообразие наследственных заболеваний кожи у населения Ростовской области. Валеология. 2014;4:12–7. [Amelina S.S., Vetrova N.V., Degtereva E.V., et al. Variety of hereditary skin diseases in the population of the Rostov region. Valeologiya. 2014;4:12–7. (In Russ.)].
  9. Нежданова М.В., Перепелов А.В. Клинико-генетические особенности нейрофиброматоза 1 типа в республике Мордовия. Евразийское Научное Объединение. 2017;1,4(26):89–92. [Nezhdanova M.V., Perepelov A.V. Clinical and genetic features of type 1 neurofibromatosis in the Republic of Mordovia. Eurasian Scientific Association. 2017;1.4(26):89–92. (In Russ.)].
  10. Мустафин Р.Н., Хуснутдинова Э.К. Перспективы исследования нейрофиброматоза I типа в Республике Башкортостан. Креативная хирургия и онкология. 2020;10(2):115–21. [Mustafin R.N., Khusnutdinova E.K. Prospects for the study of type I neurofibromatosis in the Republic of Bashkortostan. Kreativnaya khirurgiya i onkologiya. 2020;10(2):115–21 (In Russ.)]. doi: 10.24060/2076-3093-2020-10-2-115-121.
  11. National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md, USA, July 13–15, 1987. Neurofibromatosis. 1988; 1:172–78.
  12. https://www.ncbi.nlm.nih.gov/books/NBK1109
  13. Саханова А.Ш., Кенжебаева К.А., Бабий Д.В. и др. Нейрофиброматоз у детей. Медицина и экология. 2017;1(82):47–55. [Sakhanova A.Sh., Kenzhebaeva K.A., Babiy D.V., et al. Neurofibromatosis in children. Meditsina i ekologiya. 2017;1(82);47–55. (In Russ.)].
  14. URL: http://www.ncbi.nlm.nih.gov/omim
  15. URL: https://www.ncbi.nlm.nih.gov/books/NBK1220
  16. Дорофеева М.Ю., Белоусова Е.Д., Пивоварова А.М. Рекомендации по диагностике и лечению туберозного склероза. Журнал неврологии и психиатрии им. С.С. Корсакова. 2014;114(3):58–74. [Dorofeeva M.Iu., Belousova E.D., Pivovarova A.M. Recommendations for diagnosis and treatment of tuberous sclerosis. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova. 2014;114(3):58–74. (In Russ.)].
  17. Wagner A., Aretz S., Auranen A., et al. The management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) guideline. J Clin Med. 2021;10:473.
  18. Jelsig A.M., Bertelsen B., Forss I., Karstensen J.G. Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome. Famil Cancer. 2021;20:55–9.
  19. URL: https://www.ncbi.nlm.nih.gov/books/NBK1266
  20. URL: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3205
  21. Higueros E., Roe E., Granell E., Baselga E. Sturge-Weber Syndrome: A Review. Actas Dermosifiliogr. 2017;108(5):407–17. English, Spanish. doi: 10.1016/j.ad.2016.09.022.
  22. URL: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=892.
  23. Glasker S., Neumann H.P.H., Koch C.A., Vortmeyer A. Von Hippel-Lindau Disease. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.;2018.
  24. Редкие формы глаукомы. Издание 2-е, дополненное. Под ред. А.Г. Щуко и Т.Н. Юрьевой. И.: Иркутский филиал ФГАУ «НМИЦ «МНТК «Микрохирургия глаза» им. акад. С.Н. Федорова» Минздрава РФ, 2021. 224 с. ил. [Rare forms of glaucoma. Edition 2, supplemented. Ed. A.G. Shuko and T.N. Yuryeva. I.: Irkutsk branch of the Federal State Autonomous Institution «NMIC» IRTC «Eye Microsurgery» n.a. Acad. S.N. Fedorov» of the Ministry of Health of Russia, 2021. 224 p. ill. (In Russ.)].

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