دورية أكاديمية
أعرض في EDS

Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.

التفاصيل البيبلوغرافية
العنوان: Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.
المؤلفون: Peters B; Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine, Department I, Division of Paediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Dattner T; Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine, Department I, Division of Paediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Schlieben LD; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg, Germany., Sun T; Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine, Department I, Division of Paediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Staufner C; Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine, Department I, Division of Paediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Lenz D; Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine, Department I, Division of Paediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.
المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jan 27. Date of Electronic Publication: 2024 Jan 27.
Publication Model: Ahead of Print
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
أسماء مطبوعة: Publication: 2019- : [Hoboken, NJ] : Wiley
Original Publication: [Lancaster, Eng.] MTP Press.
مستخلص: Among genetic disorders of vesicular trafficking, there are three causing recurrent acute liver failure (RALF): NBAS, RINT1, and SCYL1-associated disease. These three disorders are characterized by liver crises triggered by febrile infections and account for a relevant proportion of RALF causes. While the frequency and severity of liver crises in NBAS and RINT1-associated disease decrease with age, patients with SCYL1 variants present with a progressive, cholestatic course. In all three diseases, there is a multisystemic, partially overlapping phenotype with variable expression, including liver, skeletal, and nervous systems, all organ systems with high secretory activity. There are no specific biomarkers for these diseases, and whole exome sequencing should be performed in patients with RALF of unknown etiology. NBAS, SCYL1, and RINT1 are involved in antegrade and retrograde vesicular trafficking. Pathomechanisms remain unclarified, but there is evidence of a decrease in concentration and stability of the protein primarily affected by the respective gene defect and its interaction partners, potentially causing impairment of vesicular transport. The impairment of protein secretion by compromised antegrade transport provides a possible explanation for different organ manifestations such as bone alteration due to lack of collagens or diabetes mellitus when insulin secretion is affected. Dysfunction of retrograde transport impairs membrane recycling and autophagy. The impairment of vesicular trafficking results in increased endoplasmic reticulum stress, which, in hepatocytes, can progress to hepatocytolysis. While there is no curative therapy, an early and consequent implementation of an emergency protocol seems crucial for optimal therapeutic management.
(© 2024 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)
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معلومات مُعتمدة: 01GM1906B Bundesministerium für Bildung und Forschung
فهرسة مساهمة: Keywords: CALFAN; ILFS2; ILFS3; NBAS; RINT1; SCYL1; disorders of vesicular trafficking; pediatric acute liver failure; recurrent acute liver failure
تواريخ الأحداث: Date Created: 20240127 Latest Revision: 20240127
رمز التحديث: 20240127
DOI: 10.1002/jimd.12707
PMID: 38279772
قاعدة البيانات: MEDLINE
الوصف
تدمد:1573-2665
DOI:10.1002/jimd.12707