ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v17i5.2186ppharm-1907Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCASE REPORTСочетание порока развития сердечно-сосудистой системы и муколипидоза II типа: клинический случайComorbid Cardiovascular Malformation and Type II Mucolipidosis: Clinical Casehttps://orcid.org/0000-0003-0058-8046ФедороваН. В.FedorovaNina V.

Федорова Нина Владимировна, старший научный сотрудник отдела орфанных болезней и инвалидизирующих заболеваний, врач детский кардиолог

119333, Москва, ул. Фотиевой, д. 10, стр. 1тел. рабочий: +7 (499) 137-01-97

Moscow

oazisckb@yandex.ruhttps://orcid.org/0000-0001-6614-6115ЖурковаН. В.ZhurkovaNatalia V.

Москва

Moscow

https://orcid.org/0000-0001-8320-2027ВашакмадзеН. Д.VashakmadzeNato D.

Москва

Moscow

https://orcid.org/0000-0001-9510-5515БабайкинаМ. А.BabaykinaMarina A.

Москва

Moscow

РевуненковГ. В.RevunenkovGrigory V.

Москва

Moscow

СавостьяновК. В.SavostyanovKirill V.

Москва

Moscow

https://orcid.org/0000-0001-8311-9506ГордееваО. Б.GordeevaOlga B.

Москва

Moscow

https://orcid.org/0000-0002-2209-7531Намазова-БарановаЛ. С.Namazova-BaranovaLeyla S.

Москва

Moscow

НИИ педиатрии и охраны здоровья детей ЦКБ РАНРоссияResearch Institute of Pediatrics and Children’s Health in «Central Clinical Hospital of the Russian Academy of Sciences»Russian FederationНИИ педиатрии и охраны здоровья детей ЦКБ РАН; Российский национальный исследовательский медицинский университет им. Н.И. ПироговаРоссияResearch Institute of Pediatrics and Children’s Health in «Central Clinical Hospital of the Russian Academy of Sciences»; Pirogov Russian National Research Medical UniversityRussian FederationФГАУ «НМИЦ здоровья детей» Министерства здравоохранения Российской ФедерацииРоссияNational Medical Research Center of Children’s HealthRussian Federation202023112020175459466Copyright © Федорова Н.В., Журкова Н.В., Вашакмадзе Н.Д., Бабайкина М.А., Ревуненков Г.В., Савостьянов К.В., Гордеева О.Б., Намазова-Баранова Л.С., 20202020Федорова Н.В., Журкова Н.В., Вашакмадзе Н.Д., Бабайкина М.А., Ревуненков Г.В., Савостьянов К.В., Гордеева О.Б., Намазова-Баранова Л.С.Fedorova N.V., Zhurkova N.V., Vashakmadze N.D., Babaykina M.A., Revunenkov G.V., Savostyanov K.V., Gordeeva O.B., Namazova-Baranova L.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.pedpharma.ru/jour/article/view/1907муколипидоз II типализосомные болезни накопленияген GNPTABI-клеточная болезньICDнеонатальный гиперпаратиреозгипоплазия брюшного отдела аортыtype II mucolipidosislysosomal storage diseasegene GNPTABI-cell diseaseneonatal hyperparathyroidismabdominal aortic hypoplasiaОтсутствует.Not specified.ReferencesХаррисон Т.Р. Лизосомные болезни накопления // Внутренние болезни: в 10 книгах; книга 8; пер. с англ. — М.: Медицина; 1996. — С. 250–273.Kharrison TR. Lizosomnye bolezni nakopleniya. In: Vnutrennie bolezni: v 10 knigakh; kniga 8; per. s angl. Moscow: Meditsina; 1996. pp. 250–273. (In Russ).Leroy JG, DeMars RI. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science. 1967;157(3790):804–806. doi: 10.1126/science.157.3790.804.Leroy JG, DeMars RI. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science. 1967;157(3790):804–806. doi: 10.1126/science.157.3790.804.De Mars RI, Leroy JG. The remarkable cells cultured from a human with Hurler’s syndrome: An approach to visual selection for in vitro genetic studies. In Vitro. 1966;2:107–118.De Mars RI, Leroy JG. The remarkable cells cultured from a human with Hurler’s syndrome: An approach to visual selection for in vitro genetic studies. In Vitro. 1966;2:107–118.Leroy JG, Spranger JW, Feingold M, et al. I-cell disease: a clinical picture. J Pediatr. 1971;79(3):360–365. doi: 10.1016/s00223476(71)80142-7.Leroy JG, Spranger JW, Feingold M, et al. I-cell disease: a clinical picture. J Pediatr. 1971;79(3):360–365. doi: 10.1016/s00223476(71)80142-7.Spranger JW, Wiedemann HR. The genetic mucolipidoses. Diagnostic and differential diagnosis. Humangenetik. 1970;9(2):113–139. doi: 10.1007/BF00278928.Spranger JW, Wiedemann HR. The genetic mucolipidoses. Diagnostic and differential diagnosis. Humangenetik. 1970;9(2):113–139. doi: 10.1007/BF00278928.Международная классификация болезней 10-го пересмотра (МКБ-10). Available online: MKB-10.com. Accessed on November 03,2020.Международная классификация болезней 10-го пересмотра (МКБ-10). Available online: MKB-10.com. Accessed on November 03,2020.Mucolipidosis, type II alpha/beta. OMIM. #252500. Available online: https://omim.org/entry/252500. Accessed on November 03,2020.Mucolipidosis, type II alpha/beta. OMIM. #252500. Available online: https://omim.org/entry/252500. Accessed on November 03,2020.Cathey SS, Kudo M, Tiede S, et al. Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet. 2008;146A(4):512–513. doi: 10.1002/ajmg.a.32193.Cathey SS, Kudo M, Tiede S, et al. Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet. 2008;146A(4):512–513. doi: 10.1002/ajmg.a.32193.Kudo M, Brem MS, Canfield WM. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAcphosphotransferase alpha/beta-subunits precursor gene. Am J Hum Genet. 2006;78(3):451–463. doi: 10.1086/500849.Kudo M, Brem MS, Canfield WM. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAcphosphotransferase alpha/beta-subunits precursor gene. Am J Hum Genet. 2006;78(3):451–463. doi: 10.1086/500849.De Braekeleer M. Hereditary disorders in Saguenay-Lac-StJean (Quebec, Canada). Hum Hered. 1991;41(3):141–146. doi: 10.1159/000153992.De Braekeleer M. Hereditary disorders in Saguenay-Lac-StJean (Quebec, Canada). Hum Hered. 1991;41(3):141–146. doi: 10.1159/000153992.Leroy JG, Cathey SS, Friez MJ. GNPTAB-Related Disorders. GeneReviews® [Internet] Seattle (WA): University of Washington, Seattle; 1993–2020. Available online: http://www.ncbi.nlm.nih.gov/books/NBK1828. Accessed on November 03,2020.Leroy JG, Cathey SS, Friez MJ. GNPTAB-Related Disorders. GeneReviews® [Internet] Seattle (WA): University of Washington, Seattle; 1993–2020. Available online: http://www.ncbi.nlm.nih.gov/books/NBK1828. Accessed on November 03,2020.Leyva C, Buch M, Wierenga KJ, et al. A neonate with mucolipidosis II and transient secondary hyperparathyroidism. J Pediatr Endocrinol Metab, 2019;32(12):1399–1402. doi: 10.1515/jpem2019-0162.Leyva C, Buch M, Wierenga KJ, et al. A neonate with mucolipidosis II and transient secondary hyperparathyroidism. J Pediatr Endocrinol Metab, 2019;32(12):1399–1402. doi: 10.1515/jpem2019-0162.Семячкина А.Н., Воскобоева Е.Ю., Букина Т.М. и др. Клинико-генетическая характеристика муколипидоза II и IIIA типов у детей // Российский вестник перинатологии и педиатрии. — 2017. — Т. 62. — № 3. — С. 71–78. doi: 10.21508/1027-4065-2017-62-3-71-78.Semyachkina AN, Voskoboeva EYu, Bukina ТМ, et al. Clinical and genetic characteristics of mucolipidosis II and IIIA types in children. Rossiiskii Vestnik Perinatologii i Pediatrii. 2017;62:(3):71–78. (In Russ). doi: 10.21508/1027-4065-2017-62-3-71-78.Cathey SS, Leroy JG, Wood T, et al. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet. 2010;47(1):38–48. doi: 10.1136/jmg.2009.067736.Cathey SS, Leroy JG, Wood T, et al. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet. 2010;47(1):38–48. doi: 10.1136/jmg.2009.067736.Mueller P, Moeckel A, Daehnert T. Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2. Images Paediatr Cardiol. 2006;8(4):1–6.Mueller P, Moeckel A, Daehnert T. Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2. Images Paediatr Cardiol. 2006;8(4):1–6.Siles A, Mitchell G, Dahdah N. An Infant with Mucolipidosis-II and an Atretic orifice of the Left Coronary Artery. Cardiol Young. 2010;20(1):97–99. doi: 10.1017/S1047951109991843.Siles A, Mitchell G, Dahdah N. An Infant with Mucolipidosis-II and an Atretic orifice of the Left Coronary Artery. Cardiol Young. 2010;20(1):97–99. doi: 10.1017/S1047951109991843.Daimon M, Yamagishi M. Surgical treatment of marked mitral valvar deformity combined with I-cell disease ‘Mucolipidosis II’. Cardiol Young. 2005;15(5):517–519. doi: 10.1017/S104795110500140X.Daimon M, Yamagishi M. Surgical treatment of marked mitral valvar deformity combined with I-cell disease ‘Mucolipidosis II’. Cardiol Young. 2005;15(5):517–519. doi: 10.1017/S104795110500140X.Bounds RL, Kuebler J, Cholette JM, et al. Left Main Coronary Artery Atresia in an Infant With Inclusion-Cell Disease. World J Pediatr Congenit Heart Surg. 2018;9(2):246–250. doi: 10.1177/2150135116664701.Bounds RL, Kuebler J, Cholette JM, et al. Left Main Coronary Artery Atresia in an Infant With Inclusion-Cell Disease. World J Pediatr Congenit Heart Surg. 2018;9(2):246–250. doi: 10.1177/2150135116664701.Alfadhel M, AlShehhi W, Alshaalan H, et al. Mucolipidosis II: first report from Saudi Arabia. Ann Saudi Med. 2013;33(4):382–386. doi: 10.5144/0256-4947.2013.382.Alfadhel M, AlShehhi W, Alshaalan H, et al. Mucolipidosis II: first report from Saudi Arabia. Ann Saudi Med. 2013;33(4):382–386. doi: 10.5144/0256-4947.2013.382.Velho RV, Harms FL, Danyukova T, et al. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. Hum Mutat. 2019;40(7):842–864. doi: 10.1002/humu.23748.Velho RV, Harms FL, Danyukova T, et al. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. Hum Mutat. 2019;40(7):842–864. doi: 10.1002/humu.23748.Singh A, Prasad R, Gupta AK, et al. I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis. Indian J Pediatr. 2017;84(2):144–146. doi:10.1007/s12098-016-2243-7.Singh A, Prasad R, Gupta AK, et al. I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis. Indian J Pediatr. 2017;84(2):144–146. doi:10.1007/s12098-016-2243-7.Lund TC, Cathey SS, Miller WP, et al. Outcomes after Hematopoietic Stem Cell Transplant for Children with I-Cell Disease. Biol Blood Marrow Transplant. 2014;20(11):1847–1851. doi: 10.1016/j.bbmt.2014.06.019.Lund TC, Cathey SS, Miller WP, et al. Outcomes after Hematopoietic Stem Cell Transplant for Children with I-Cell Disease. Biol Blood Marrow Transplant. 2014;20(11):1847–1851. doi: 10.1016/j.bbmt.2014.06.019.

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