ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2021.75.30ymj-557Research ArticleСЛУЧАЙ ИЗ ПРАКТИКИCLINICAL CASEБолезнь Менкеса. Клинический случай редкого нарушения обмена меди, обусловленного мутацией в гене ATP7AMenkes disease. A clinical case of a rare disorder of copper metabolism caused by a mutation in the ATP7A geneМомотГ. О.MomotG. O.

Момот Герман Олегович – врач невролог

г. Владивосток;

аспирант Института педиатрии

Momot G.O. – Neurologist

Vladivostok;

graduate student of the Institute of Pediatrics

Garimg12@gmail.comШалыгинаА. А.ShalyginaA. A.

Шалыгина Алина Алексеевна – зав. паллиативным отделением

Shalygina A.A. - Head of the palliative department

Vladivostok

Alina_shalygina1993@mail.ruКруковичЕ. В.KrukovichE. V.

Крукович Елена Валентиновна – д.м.н., проф.

Krukovich E.V. - Doctor of Medical Sciences, Professor of the Institute of Pediatrics

bim1964@mail.ruЗеленковаИ. С.ZelenkovaI. S.

Зеленкова Инна Сергеевна – гл. врач;

гл. внештат. спец. по паллиативной помощи в ПК

Zelenkova I.S. - chief physician

Vladivostok;

chief specialist in palliative aid in the Primorsky Krai

ГБУЗ "КДКБ №2"; ФГБОУ ВО Тихоокеанского ГМУ МЗ РоссииРоссияSBIH Regional Budget Clinical Hospital No. 2; Pacific State Medical University of the Ministry of Health of Russian FederationRussian FederationГБУЗ "КДКБ №2"РоссияSBIH Regional Budget Clinical Hospital No. 2Russian FederationИП Тихоокеанского ГМУРоссияPacific State Medical University of the Ministry of Health of Russian FederationRussian FederationГБУЗ "КДКБ №2"РоссияSBIH SBIH Regional Budget Clinical Hospital No. 2Russian Federation20212704202503116118Copyright © Момот Г.О., Шалыгина А.А., Крукович Е.В., Зеленкова И.С., 20252025Момот Г.О., Шалыгина А.А., Крукович Е.В., Зеленкова И.С.Momot G.O., Shalygina A.A., Krukovich E.V., Zelenkova I.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/557

В статье представлены особенности диагностики и динамического наблюдения за пациентом с болезнью Менкеса, редкого нарушения обмена меди, обусловленного мутацией в гене ATP7A. Проанализированы данные научной литературы на тему эпидемиологии, этиологии, патогенеза данного заболевания, а также рассмотрены основные принципы терапии и исходы болезни.

The article presents the features of diagnostics and dynamic monitoring of a patient with Menkes disease, a rare disorder of copper metabolism caused by a mutation in the ATP7A gene. The data of scientific literature on the epidemiology, etiology, pathogenesis of this disease are analyzed, and the basic principles of therapy and the outcomes of the disease are considered.

медьцерулоплазмингипсаритмияболезнь МенкесаCopperceruloplasminhypsarrhythmiaMenkes diseaseReferencesВсероссийское общество орфанных заболеваний – редкие болезни – болезнь Менкеса. / http://www.rare-diseases.ru/rare-diseases/ encyclopedia diseases/123-2010-07-03-18-28-23.ВAll-Russian Society of Orphan Diseases - Rare Diseases - Menkes disease. / http://www.rare-diseases.ru/rare-diseases/encyclopediadiseases/123-2010-07-03-18-28-23.Федеральные клинические рекомендации по диагностике и лечению болезни Вильсона-Коновалова (гепатолентикулярная дегенерация) / Asanov A.Yu., Sokolov A.A., Volgina S.Ya. [et al.] // VII съезд Российского общества медицинских генетиков в Санкт Петербурге (19-23 мая 2015 г.)Federal clinical guidelines for the diagnosis and treatment of Wilson-Konovalov disease (hepatolenticular degeneration)/ Асанов А.Ю., Соколов А.А., Волгина С.Я. [и др.] // VII Congress of the Russian Society of Medical Geneticists in St. Petersburg (May 19-23, 2015).Asok K Datta, Menkes kinky hair disease: A case report // Asok K Datta, Tarak-nath Ghosh, Kaustav Nayak & Mrinalkanti Ghosh // Published: 18 September 2008; Cases Jour-nal 2008, 1:158 doi:10.1186/1757-1626-1-158Asok K Datta, Menkes kinky hair disease: A case report // Asok K Datta, Tarak-nath Ghosh, Kaustav Nayak & Mrinalkanti Ghosh // Published: 18 September 2008; Cases Jour-nal 2008, 1:158 doi:10.1186/1757-1626-1-158Borm B, Moller LB, Hausser I, Emeis M, Baerlocher K, Horn N, Rossi R. Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndromein three affected males in a single family. J Pediatr. 2004; 145:119–21. [PubMed]Borm B, Moller LB, Hausser I, Emeis M, Baerlocher K, Horn N, Rossi R. Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndromein three affected males in a single family. J Pediatr. 2004; 145:119–21. [PubMed]Culotta VC, Gitlin JD. Disorders of copper transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8 ed. Vol 2. New York, NY: McGraw-Hill; 2001:3105-26.Culotta VC, Gitlin JD. Disorders of copper transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8 ed. Vol 2. New York, NY: McGraw-Hill; 2001:3105-26.Desai V, Donsante A, Swoboda KJ, Martensen M, Thompson J, Kaler SG. Favor-ably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes dis-ease. Clin Genet. 2011;79:176–82. [PMC free article] [PubMed]Desai V, Donsante A, Swoboda KJ, Martensen M, Thompson J, Kaler SG. Favor-ably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes dis-ease. Clin Genet. 2011;79:176–82. [PMC free article] [PubMed]Donsante A, Tang JR, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, Kaler SG. Differences in ATP7A gene expression underlie intra-familial variability in Menkes dis-ease/occipital horn syndrome. J Med Genet. 2007; 44:492–7. [PMC free article] [PubMed]Donsante A, Tang JR, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, Kaler SG. Differences in ATP7A gene expression underlie intra-familial variability in Menkes dis-ease/occipital horn syndrome. J Med Genet. 2007; 44:492–7. [PMC free article] [PubMed]Donsante A, Yi L, Zerfas P, Brinster L, Sullivan P, Goldstein DS, Prohaska J, Centeno JA, Kaler SG. ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Mol Ther. 2011;19:2114–23. [PMC free article] [PubMed]Donsante A, Yi L, Zerfas P, Brinster L, Sullivan P, Goldstein DS, Prohaska J, Centeno JA, Kaler SG. ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Mol Ther. 2011;19:2114–23. [PMC free article] [PubMed]Kaler SG, Buist NR, Holmes CS, Goldstein DS, Miller RC, Gahl WA. Early cop-per therapy in classic Menkes disease patients with a novel splicing mutation. Ann Neurol. 1995; 38:921–8. [PubMed]Kaler SG, Buist NR, Holmes CS, Goldstein DS, Miller RC, Gahl WA. Early cop-per therapy in classic Menkes disease patients with a novel splicing mutation. Ann Neurol. 1995; 38:921–8. [PubMed]Kaler SG, Holmes CS, Goldstein DS, Tang JR, Godwin SC, Donsante A, Liew CJ, Sato S, Patronas N. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med. 2008; 358:605–14. [PMC free article] [PubMed]Kaler SG, Holmes CS, Goldstein DS, Tang JR, Godwin SC, Donsante A, Liew CJ, Sato S, Patronas N. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med. 2008; 358:605–14. [PMC free article] [PubMed]Kaler SG, Liew CJ, Donsante A, Hicks JD, Sato S, Greenfield JC. Molecular cor-relates of epilepsy in early diagnosed and treated Menkes disease. J Inher Metab Dis. 2010;33:583–9. [PMC free article] [PubMed]Kaler SG, Liew CJ, Donsante A, Hicks JD, Sato S, Greenfield JC. Molecular cor-relates of epilepsy in early diagnosed and treated Menkes disease. J Inher Metab Dis. 2010;33:583–9. [PMC free article] [PubMed]Moore CM, Howell RR. Ectodermal manifestations in Menkes disease. Clin Genet. 1985; 28:532–40. [PubMed]Moore CM, Howell RR. Ectodermal manifestations in Menkes disease. Clin Genet. 1985; 28:532–40. [PubMed]Stephen G., ATP7A-Related Copper Transport Disorders / Stephen G Kaler, MD, MPH. // the GeneReview 2016.Stephen G., ATP7A-Related Copper Transport Disorders / Stephen G Kaler, MD, MPH. // the GeneReview 2016.Tümer Z, Birk Møller L, Horn N. Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. Hum Mutat. 2003; 22:457–64. [PubMed]Tümer Z, Birk Møller L, Horn N. Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. Hum Mutat. 2003; 22:457–64. [PubMed]

The authors declare that there are no conflicts of interest present.