perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2025-70-4-29-38perinatology-2228Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSСовременные подходы к ведению детей с синдромом АлажилляModern approaches to the management of children with Alagille syndromehttps://orcid.org/0000-0003-0172-0520ЛевченкоЛ. А.LevchenkoL. A.

Левченко Людмила Анатольевна (автор, ответственный за переписку) — д.м.н., проф. кафедры госпитальной педиатрии им. академика В.А. Таболина Института материнства и детства

117513, г. Москва, ул. Островитянова, дом 1

117513, Moscow

https://orcid.org/0009-0005-9466-1081ЗизюкинаК. С.ZizyukinaK. S.

Зизюкина Карина Сергеевна — студентка 5 курса Института материнства и детства

117513, г. Москва, ул. Островитянова, дом 1

117513, Moscow

https://orcid.org/0009-0006-1716-7319КравченкоТ. Ю.KravchenkoT. Yu.

Кравченко Тимофей Юрьевич — студент 6 курса Института материнства и детства

117513, г. Москва, ул. Островитянова, дом 1

117513, Moscow

https://orcid.org/0009-0006-4321-0827ЛунгуТ.LunguT.

Лунгу Татьяна — студентка 6 курса Института материнства и детства

117513, г. Москва, ул. Островитянова, дом 1

117513, Moscow

https://orcid.org/0009-0001-2604-615XПетриченкоА. А.PetrichenkoA. A.

Петриченко Амалия Александровна — студентка 6 курса Института материнства и детства

117513, г. Москва, ул. Островитянова, дом 1

117513, Moscow

https://orcid.org/0009-0001-9654-973XГрязноваА. А.GryaznovaА. A.

Грязнова Арина Александровна — студентка 5 курса Института материнства и детства

117513, г. Москва, ул. Островитянова, дом 1

117513, Moscow

https://orcid.org/0000-0002-3240-5892ИльинаА. Я.IlyinaA. Ya.

Ильина Алла Яковлевна — д.м.н., проф. кафедры госпитальной педиатрии им. академика В.А. Таболина Института материнства и детства

117513, г. Москва, ул. Островитянова, дом 1

117513, Moscow

https://orcid.org/0000-0001-7305-9036СаркисянЕ. А.SarkisyanH. A.

Саркисян Егине Альбертовна — к.м.н., доцент кафедры госпитальной педиатрии им. академика В.А.Таболина Института материнства и детства

117513, г. Москва, ул. Островитянова, дом 1

117513, Moscow

ФГАОУ ВО «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова» Минздрава РоссииРоссияPirogov Russian National Research Medical UniversityRussian Federation20252808202570429–38Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20252025Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/2228

Синдром Алажилля — заболевание с преимущественно аутосомно-доминантным типом наследования, характеризующееся мультисистемным поражением, обусловленным мутациями в генах JAG1 и NOTCH2. Наиболее частыми проявлениями данного синдрома служат внутрипеченочный холестаз вследствие недоразвития желчных протоков, пороки развития сердца, челюстно-лицевой дисморфизм, патология позвонков, рентгенологически проявляющаяся как «позвонкибабочки», офтальмологические нарушения, сосудистые аномалии и патология почек. Кроме вышеперечисленного, значимыми являются нарушение нервно-психического и физического развития. Использование высокотехнологичных способов диагностики при наблюдении таких детей позволяет выявлять редко встречаемые нарушения, требующие не менее пристального наблюдения врачей мультидисциплинарной команды. Представленная статья посвящена современным подходам к ведению детей с синдромом Алажилля с акцентированием особого внимания на вариабельности клинических проявлений, особенностям диагностики и новым методам, в частности, таргетным препаратам для лечения пациентов с данным заболеванием. 

Alagille syndrome is a disease with a predominantly autosomal dominant type of inheritance, characterized by multisystem damage caused by mutations in the JAG1 and NOTCH2 genes. The most common manifestations of this syndrome are intrahepatic cholestasis due to underdevelopment of the bile ducts, heart defects, maxillofacial dysmorphism, vertebral pathology — radiographically manifested as “butterfly vertebrae”, ophthalmological disorders, vascular anomalies and kidney pathology. In addition to the above, a violation of neuropsychic and physical development is significant. The use of high-tech diagnostic methods in the observation of such children allows us to identify rare disorders that require equally close monitoring by doctors of a multidisciplinary team. The presented article is devoted to modern approaches to the management of children with Alagille syndrome, emphasizing variability of clinical manifestations, diagnostic features and new targeted drugs for the treatment of patients with this disease.

синдром Алажилляартериопеченочная дисплазияхронический холестазмножественные пороки развитияAlagille syndromearteriohepatic dysplasiachronic cholestasismultiple malformationsReferencesAyoub M.D., Kamath B.M. Alagille Syndrome: Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management. Clin Liver Dis. 2022; 26(3): 355–370. DOI: 10.1016/j.cld.2022.03.002Ayoub M.D., Kamath B.M. Alagille Syndrome: Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management. Clin Liver Dis. 2022; 26(3): 355–370. DOI: 10.1016/j.cld.2022.03.002Diaz-Frias J., Kondamudi N.P. Alagille Syndrome. 2023 Aug 12. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025. PMID: 29939604Diaz-Frias J., Kondamudi N.P. Alagille Syndrome. 2023 Aug 12. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025. PMID: 29939604Semenova N., Kamenets E., Annenkova E., Marakhonov A., Gusarova E., Demina N., et al. Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease. Int J Mol Sci. 2023; 24(14): 11758. DOI: 10.3390/ijms241411758Semenova N., Kamenets E., Annenkova E., Marakhonov A., Gusarova E., Demina N., et al. Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease. Int J Mol Sci. 2023; 24(14): 11758. DOI: 10.3390/ijms241411758Rizvanullah, Saad M., Ahmad KT., Gul A., Ali K. Alajille syndrome in infants: a rare case. J.D.D. Hepatol, 2022; 6: 176. DOI: 10.29011/2574–3511.100076Rizvanullah, Saad M., Ahmad KT., Gul A., Ali K. Alajille syndrome in infants: a rare case. J.D.D. Hepatol, 2022; 6: 176. DOI: 10.29011/2574–3511.100076Eiamkulbutr S., Tubjareon C., Sanpavat A., Phewplung T., Srisan N., Sintusek P. Diseases of bile duct in children. World J Gastroenterol. 2024; 30(9): 1043–1072. DOI: 10.3748/wjg.v30.i9.1043Eiamkulbutr S., Tubjareon C., Sanpavat A., Phewplung T., Srisan N., Sintusek P. Diseases of bile duct in children. World J Gastroenterol. 2024; 30(9): 1043–1072. DOI: 10.3748/wjg.v30.i9.1043Alagille D., Odièvre M., Gautier M., Dommergues J.P. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr. 1975; 86(1): 63–71. DOI: 10.1016/s0022–3476(75)80706–2Alagille D., Odièvre M., Gautier M., Dommergues J.P. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr. 1975; 86(1): 63–71. DOI: 10.1016/s0022–3476(75)80706–2Halma J., Lin H.C. Alagille syndrome: understanding the genotype-phenotype relationship and its potential therapeutic impact. Expert Rev Gastroenterol Hepatol. 2023; 17(9): 883–892. DOI: 10.1080/17474124.2023.2255518Halma J., Lin H.C. Alagille syndrome: understanding the genotype-phenotype relationship and its potential therapeutic impact. Expert Rev Gastroenterol Hepatol. 2023; 17(9): 883–892. DOI: 10.1080/17474124.2023.2255518Назаренко Л.П. Федеральные клинические рекомендации по диагностике и лечению синдрома Алажилля. М., 2015; 25NazarenkoL.P. Federal clinical guidelines for the diagnosis and treatment of Alagille syndrome. M., 2015; 25 (in Russ.)]Дегтярева А.В., Докшукина А.А., Готье М.С., Филиппова Е.А., Туманова Е.Л., Захарова Е.Ю., Албегова М.Б. Ранние клинико-лабораторные и инструментальные характеристики синдрома Алажилля. Неонатология: новости, мнения, обучение. 2024; 12(1): 27–36. DOI: 10.33029/2308–2402–2024–12–1–27–36Degtyareva A.V., Dokshukina A.A., Got’e M.S., Filippova E.A., Tumanova E.L., Zaharova E. YU. Early clinical, laboratory and instrumental characteristics of Alagille syndrome. Neonatologiya: novosti, mneniya, obuchenie. 2024; 12(1): 27–36.(in Russ.)]. DOI: 10.33029/2308–2402–2024–12–1–27–36Волынец Г.В., Никитин А.В., Скворцова Т.А. Синдром Алажилля у детей. Российский вестник перинатологии и педиатр 2020; 65:(2): 108–116. DOI: 10.21508/1027–4065–2020–65–2–108–116 DOI: 10.21508/1027–4065–2020–65–2–108–116Volynec G.V., Nikitin A.V., Skvorcova T.A. Alagille syndrome in children. Rossijskij vestnik perinatologii i pediatr 2020; 65:(2): 108–116.(in Russ.)] DOI: 10.21508/1027–4065–2020–65–2–108–116Karim F., Hiremath G., Samayoa J.C., Said S.M. Complex Pulmonary Artery Rehabilitation in Children with Alagille Syndrome: An Early Single-Center Experience of a Successful Collaborative Work. J Cardiovasc Dev Dis. 2024; 11(8): 232. DOI: 10.3390/jcdd11080232Karim F., Hiremath G., Samayoa J.C., Said S.M. Complex Pulmonary Artery Rehabilitation in Children with Alagille Syndrome: An Early Single-Center Experience of a Successful Collaborative Work. J Cardiovasc Dev Dis. 2024; 11(8): 232. DOI: 10.3390/jcdd11080232Kohut T.J., Gilbert M.A., Loomes K.M. Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment. Semin Liver Dis. 2021; 41(4): 525–537. DOI: 10.1055/s-0041–1730951Kohut T.J., Gilbert M.A., Loomes K.M. Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment. Semin Liver Dis. 2021; 41(4): 525–537. DOI: 10.1055/s-0041–1730951Şafak A., Karakaya E., Varan B., Özçay F., Çekmen N., Yıldırım S., et al. Experience and Results of Liver Transplantation in Patients With Alagille Syndrome at Our Center. Exp Clin Transplant. 2024; 22(Suppl 5): 94–99. DOI: 10.6002/ect.вpedsymp2024.O27Şafak A., Karakaya E., Varan B., Özçay F., Çekmen N., Yıldırım S., et al. Experience and Results of Liver Transplantation in Patients With Alagille Syndrome at Our Center. Exp Clin Transplant. 2024; 22(Suppl 5): 94–99. DOI: 10.6002/ect.вpedsymp2024.O27Gilbert M.A., Loomes K.M. Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts. TranslGastroenterol Hepatol. 2021; 6: 22. DOI: 10.21037/tgh-2020–03Gilbert M.A., Loomes K.M. Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts. TranslGastroenterol Hepatol. 2021; 6: 22. DOI: 10.21037/tgh-2020–03Chen L., Chen J., Lou J., Yu J. Clinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel JAG1 and NOTCH2 mutations. Transl Pediatr. 2024; 13(12): 2144–2154. DOI: 10.21037/tp-24–301Chen L., Chen J., Lou J., Yu J. Clinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel JAG1 and NOTCH2 mutations. Transl Pediatr. 2024; 13(12): 2144–2154. DOI: 10.21037/tp-24–301Morton A., Kumar S. Alagille syndrome and pregnancy. Obstet Med. 2021; 14(1): 39–41. DOI: 10.1177/1753495X19849738Morton A., Kumar S. Alagille syndrome and pregnancy. Obstet Med. 2021; 14(1): 39–41. DOI: 10.1177/1753495X19849738Zhou B., Lin W., Long Y., Yang Y., Zhang H., Wu K., et al. Notch signaling pathway: architecture, disease, and therapeutics. Signal Transduct Target Ther. 2022; 7(1): 95. DOI: 10.1038/s41392–022–00934–yZhou B., Lin W., Long Y., Yang Y., Zhang H., Wu K., et al. Notch signaling pathway: architecture, disease, and therapeutics. Signal Transduct Target Ther. 2022; 7(1): 95. DOI: 10.1038/s41392–022–00934–ySpinner N.B., Loomes K.M., Krantz I.D., Gilbert M.A. Alagille Syndrome. 2000 May 19 [updated 2024 Jan 4]. In: GeneReviews®[Internet]. Editros: Adam M.P., Feldman J., Mirzaa G.M., Pagon R.A., Wallace S.E., Amemiya A. Seattle (WA): University of Washington, Seattle; 1993–2025Spinner N.B., Loomes K.M., Krantz I.D., Gilbert M.A. Alagille Syndrome. 2000 May 19 [updated 2024 Jan 4]. In: GeneReviews®[Internet]. Editros: Adam M.P., Feldman J., Mirzaa G.M., Pagon R.A., Wallace S.E., Amemiya A. Seattle (WA): University of Washington, Seattle; 1993–2025Bufler P., Howard R., Quadrado L., Lacey G., TernerRosenthal J., Goldstein A., et al. The burden of Alagille syndrome: uncovering the potential of emerging therapeutics — a comprehensive systematic literature review. J Comp Eff Res. 2025; 14(2):e240188. DOI: 10.57264/cer-2024–0188Bufler P., Howard R., Quadrado L., Lacey G., TernerRosenthal J., Goldstein A., et al. The burden of Alagille syndrome: uncovering the potential of emerging therapeutics — a comprehensive systematic literature review. J Comp Eff Res. 2025; 14(2):e240188. DOI: 10.57264/cer-2024–0188Lee P.S., Silva Sepulveda J.A., Del Campo M., Leibel S.L., Hildreth A., Marc-Aurele K.L. A neonatal case of vascular ring with Alagille syndrome. SAGE Open Med Case Rep. 2023; 11: 2050313X231197321. DOI: 10.1177/2050313X231197321Lee P.S., Silva Sepulveda J.A., Del Campo M., Leibel S.L., Hildreth A., Marc-Aurele K.L. A neonatal case of vascular ring with Alagille syndrome. SAGE Open Med Case Rep. 2023; 11: 2050313X231197321. DOI: 10.1177/2050313X231197321D’Amico A., Perillo T., Cuocolo R., Ugga L., Di Dato F., Caranci F., et al. Neuroradiological findings in Alagille syndrome. Br J Radiol. 2022; 95(1129): 20201241. DOI: 10.1259/bjr.20201241D’Amico A., Perillo T., Cuocolo R., Ugga L., Di Dato F., Caranci F., et al. Neuroradiological findings in Alagille syndrome. Br J Radiol. 2022; 95(1129): 20201241. DOI: 10.1259/bjr.20201241Гаджимурадов М.Н., Алиева М.Г., Мамашева Г.Д. Синдром Алажиля. Врач. 2020; 31 (8): 64–69. DOI: 10.29296/25877305–2020–08–10Gadzhimuradov M.N., Alieva M.G., Mamasheva G.D. Alagille syndrome. Vrach. 2020; 31 (8): 64–69.(in Russ.)] DOI: 10.29296/25877305–2020–08–10Isa H.M., Alahmed F.A. Clinical, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients with Alagille Syndrome. Adv Biomed Res. 2023; 12: 155. DOI: 10.4103/abr.abr_201_22Isa H.M., Alahmed F.A. Clinical, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients with Alagille Syndrome. Adv Biomed Res. 2023; 12: 155. DOI: 10.4103/abr.abr_201_22Xu F., Peng Q., He X., Chen X., Jiang S., Lu X., et al. Alagille syndrome due to a de novo NOTCH2 mutation presenting as prenatal oligohydramnios and congenital bilateral renal hypodysplasia: A case report. Front Pediatr. 2022; 10: 1020536. DOI: 10.3389/fped.2022.1020536Xu F., Peng Q., He X., Chen X., Jiang S., Lu X., et al. Alagille syndrome due to a de novo NOTCH2 mutation presenting as prenatal oligohydramnios and congenital bilateral renal hypodysplasia: A case report. Front Pediatr. 2022; 10: 1020536. DOI: 10.3389/fped.2022.1020536Bonnet A.L., Greset V., Davit-Beal T. Oral manifestations of Alagille syndrome. BMJ Case Rep. 2020; 13(5):e234689. DOI: 10.1136/bcr-2020–234689Bonnet A.L., Greset V., Davit-Beal T. Oral manifestations of Alagille syndrome. BMJ Case Rep. 2020; 13(5):e234689. DOI: 10.1136/bcr-2020–234689Andersson E.R., Chivukula I.V., Hankeova S., Sjöqvist M., Tsoi Y.L., Ramsköld D., et al. Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations. Gastroenterology. 2018; 154(4): 1080–1095. DOI: 10.1053/j.gastro.2017.11.002Andersson E.R., Chivukula I.V., Hankeova S., Sjöqvist M., Tsoi Y.L., Ramsköld D., et al. Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations. Gastroenterology. 2018; 154(4): 1080–1095. DOI: 10.1053/j.gastro.2017.11.002Sharma A.D., Parihar A., Reddy P., Mandlik R. Oral manifestations of Alagille-2 syndrome: a rare case report. International Journal of Research in Medical Sciences, 2023; 11(9): 3471–3474. DOI: 10.18203/2320–6012.ijrms20232813Sharma A.D., Parihar A., Reddy P., Mandlik R. Oral manifestations of Alagille-2 syndrome: a rare case report. International Journal of Research in Medical Sciences, 2023; 11(9): 3471–3474. DOI: 10.18203/2320–6012.ijrms20232813Zeng H.S., Zhang Z.H., Hu Y., Zheng G.L., Wang J., Zhang J.W., et al. Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas: A case report. World J Clin Cases. 2022; 10(25): 8932–8938. DOI: 10.12998/wjcc.v10.i25.8932Zeng H.S., Zhang Z.H., Hu Y., Zheng G.L., Wang J., Zhang J.W., et al. Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas: A case report. World J Clin Cases. 2022; 10(25): 8932–8938. DOI: 10.12998/wjcc.v10.i25.8932Yuan S.M. Pulmonary artery pathologies in Alagille syndrome: a meta-analysis. Postepy Kardiol Interwencyjnej. 2022; 18(2): 111–117. DOI: 10.5114/aic.2022.118526. Epub 2022 Aug 19Yuan S.M. Pulmonary artery pathologies in Alagille syndrome: a meta-analysis. Postepy Kardiol Interwencyjnej. 2022; 18(2): 111–117. DOI: 10.5114/aic.2022.118526. Epub 2022 Aug 19Wu K.Y., Treece A.L., Russo P.A., Wen J.W. An Atypical Presentation of Alagille Syndrome. Pediatr Dev Pathol. 2018; 21(1): 79–83. DOI: 10.1177/1093526616686902Wu K.Y., Treece A.L., Russo P.A., Wen J.W. An Atypical Presentation of Alagille Syndrome. Pediatr Dev Pathol. 2018; 21(1): 79–83. DOI: 10.1177/1093526616686902Katsoulos K.F., Kapsala Z., Livir-Rallatos G. Case Report: Alagille Syndrome Presenting with Angioid Streaks. Optom Vis Sci. 2021; 98(2): 109–112. DOI: 10.1097/OPX.0000000000001641Katsoulos K.F., Kapsala Z., Livir-Rallatos G. Case Report: Alagille Syndrome Presenting with Angioid Streaks. Optom Vis Sci. 2021; 98(2): 109–112. DOI: 10.1097/OPX.0000000000001641Ranchin B., Meaux M.N., Freppel M., Ruiz M., De Mul A. Kidney and vascular involvement in Alagille syndrome. Pediatr Nephrol. 2025; 40(4): 891–899. DOI: 10.1007/s00467–024–06562–8. Epub 2024 Oct 24Ranchin B., Meaux M.N., Freppel M., Ruiz M., De Mul A. Kidney and vascular involvement in Alagille syndrome. Pediatr Nephrol. 2025; 40(4): 891–899. DOI: 10.1007/s00467–024–06562–8. Epub 2024 Oct 24Cerron-Vela C.R., Tierradentro-García L.O., Rimba Z.L., Andronikou S. Evolution of cerebrovascular imaging and associated clinical findings in children with Alagille syndrome. Neuroradiology. 2024; 66(8): 1325–1334. DOI: 10.1007/s00234–024–03316–z. Epub 2024 Feb 24Cerron-Vela C.R., Tierradentro-García L.O., Rimba Z.L., Andronikou S. Evolution of cerebrovascular imaging and associated clinical findings in children with Alagille syndrome. Neuroradiology. 2024; 66(8): 1325–1334. DOI: 10.1007/s00234–024–03316–z. Epub 2024 Feb 24Guida L., Gardin A., James S., Arnaud E., Toujouse C., Roux J., et al. Craniosynostosis as a cause of intracranial hypertension in Alagille syndrome: a case series of 6 consecutive pediatric patients. Neurosurg Focus. 2025; 58(1):E6. DOI: 10.3171/2024.10.FOCUS24588Guida L., Gardin A., James S., Arnaud E., Toujouse C., Roux J., et al. Craniosynostosis as a cause of intracranial hypertension in Alagille syndrome: a case series of 6 consecutive pediatric patients. Neurosurg Focus. 2025; 58(1):E6. DOI: 10.3171/2024.10.FOCUS24588Gilbert M.A., Keefer-Jacques E., Jadhav T., Antfolk D., Ming Q., Valente N., Shaw G.T., et al. Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation. Am J Hum Genet. 2024; 111(8): 1656–1672. DOI: 10.1016/j.ajhg.2024.06.011Gilbert M.A., Keefer-Jacques E., Jadhav T., Antfolk D., Ming Q., Valente N., Shaw G.T., et al. Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation. Am J Hum Genet. 2024; 111(8): 1656–1672. DOI: 10.1016/j.ajhg.2024.06.011Andrews A.R., Putra J. Central Hepatic Regenerative Nodules in Alagille Syndrome: A Clinicopathological Review. Fetal Pediatr Pathol. 2021; 40(1): 69–79. DOI: 10.1080/15513815.2019.1675834. Epub 2019 Oct 14Andrews A.R., Putra J. Central Hepatic Regenerative Nodules in Alagille Syndrome: A Clinicopathological Review. Fetal Pediatr Pathol. 2021; 40(1): 69–79. DOI: 10.1080/15513815.2019.1675834. Epub 2019 Oct 14Surapaneni A., Kuo J., Wang M., Ashour R. Epidermoid cyst in a patient with Alagille syndrome: Coincidence or connection? Surg Neurol Int. 2020; 11: 432 DOI: 10.25259/SNI_611_2020Surapaneni A., Kuo J., Wang M., Ashour R. Epidermoid cyst in a patient with Alagille syndrome: Coincidence or connection? Surg Neurol Int. 2020; 11: 432 DOI: 10.25259/SNI_611_2020Leung D.H., Sorensen L.G., Ye W., Hawthorne K., Ng V.L., Loomes K.M., et al. Childhood Liver Disease Research Network (ChiLDReN). Neurodevelopmental Outcomes in Children With Inherited Liver Disease and Native Liver. J Pediatr Gastroenterol Nutr. 2022; 74(1): 96–103. DOI: 10.1097/MPG.0000000000003337Leung D.H., Sorensen L.G., Ye W., Hawthorne K., Ng V.L., Loomes K.M., et al. Childhood Liver Disease Research Network (ChiLDReN). Neurodevelopmental Outcomes in Children With Inherited Liver Disease and Native Liver. J Pediatr Gastroenterol Nutr. 2022; 74(1): 96–103. DOI: 10.1097/MPG.0000000000003337Yan J., Huang Y., Cao L., Dong Y., Xu Z., Wang F., et al. Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome. BMC Pediatr. 2024; 24(1): 532. DOI: 10.1186/s12887–024–04973–yYan J., Huang Y., Cao L., Dong Y., Xu Z., Wang F., et al. Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome. BMC Pediatr. 2024; 24(1): 532. DOI: 10.1186/s12887–024–04973–yНеонатология: национальное руководство: в 2 т. Том 1. Под редакцией Володина Н.Н., Дегтярева Д.Н. 2–е изд., перераб. и доп. — Москва: ГЭОТАР-Медиа, 2023; 752 DOI: 10.33029/9704–7828–8–NNG-2023–1–752Neonatology: National guidelines: in 2 volumes. Volume 1. Editors Volodin N.N., Degtyarev D.N. 2nd ed., revised and add. Moscow: GEOTAR-Media, 2023; 752 (in Russ)] DOI: 10.33029/9704–7828–8–NNG-2023–1–752Kamath B.M., Stein P., Houwen R.H.J., Verkade H.J. Potential of ileal bile acid transporter inhibition as a therapeutic target in Alagille syndrome and progressive familial intrahepatic cholestasis. Liver Int. 2020; 40(8): 1812–1822. DOI: 10.1111/liv.14553Kamath B.M., Stein P., Houwen R.H.J., Verkade H.J. Potential of ileal bile acid transporter inhibition as a therapeutic target in Alagille syndrome and progressive familial intrahepatic cholestasis. Liver Int. 2020; 40(8): 1812–1822. DOI: 10.1111/liv.14553Heinz N., Vittorio J. Treatment of Cholestasis in Infants and Young Children. Curr Gastroenterol Rep. 2023; 25(11): 344–354. DOI: 10.1007/s11894–023–00891–8Heinz N., Vittorio J. Treatment of Cholestasis in Infants and Young Children. Curr Gastroenterol Rep. 2023; 25(11): 344–354. DOI: 10.1007/s11894–023–00891–8Gonzales E., Hardikar W., Stormon M., Baker A., Hierro L., Gliwicz D., et al. Efficacy and safety of maralixibat treatment in patients with Alagille syndrome and cholestatic pruritus (ICONIC): a randomised phase 2 study. Lancet. 2021; 398(10311): 1581–1592. DOI: 10.1016/S0140–6736(21)01256–3Gonzales E., Hardikar W., Stormon M., Baker A., Hierro L., Gliwicz D., et al. Efficacy and safety of maralixibat treatment in patients with Alagille syndrome and cholestatic pruritus (ICONIC): a randomised phase 2 study. Lancet. 2021; 398(10311): 1581–1592. DOI: 10.1016/S0140–6736(21)01256–3Jarasvaraparn C., Rodrigo M., Hartley C., Karnsakul W. Exploring odevixibat’s efficacy in alagille syndrome: insights from recent clinical trials and IBAT inhibitor experiences. Expert Opin Pharmacother. 2024; 25(12): 1647–1655. DOI: 10.1080/14656566.2024.2392873Jarasvaraparn C., Rodrigo M., Hartley C., Karnsakul W. Exploring odevixibat’s efficacy in alagille syndrome: insights from recent clinical trials and IBAT inhibitor experiences. Expert Opin Pharmacother. 2024; 25(12): 1647–1655. DOI: 10.1080/14656566.2024.2392873Shirley M. Maralixibat: First Approval. Drugs. 2022; 82(1): 71–76. DOI: 10.1007/s40265–021–01649–0Shirley M. Maralixibat: First Approval. Drugs. 2022; 82(1): 71–76. DOI: 10.1007/s40265–021–01649–0Hansen B.E., Vandriel S.M., Vig P., Garner W., Mogul D.B., Loomes K.M., et al. Global Alliance (GALA) Study Group ALagille. Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA. Hepatology. 2024; 79(6): 1279–1292. DOI: 10.1097/HEP.0000000000000727Hansen B.E., Vandriel S.M., Vig P., Garner W., Mogul D.B., Loomes K.M., et al. Global Alliance (GALA) Study Group ALagille. Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA. Hepatology. 2024; 79(6): 1279–1292. DOI: 10.1097/HEP.0000000000000727Vandriel S.M., Li L.T., She H., Wang J.S., Gilbert M.A., Jankowska I., et al. Global ALagille Alliance (GALA) Study Group. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Hepatology. 2023; 77(2): 512–529. DOI: 10.1002/hep.32761Vandriel S.M., Li L.T., She H., Wang J.S., Gilbert M.A., Jankowska I., et al. Global ALagille Alliance (GALA) Study Group. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Hepatology. 2023; 77(2): 512–529. DOI: 10.1002/hep.32761

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