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Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.
Ital J Pediatr. 2014 Sep 20; 40:77.IJ

Abstract

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features include ichthyosis, central nervous system malformation, platelet anomalies, and severe failure to thrive. Diagnosis of ARC syndrome relies on clinical features, organ biopsy, and mutational analysis. However, no specific treatment currently exists for this syndrome.

CONCLUSION

This is an overview of the latest knowledge regarding the genetic features and clinical manifestations of ARC syndrome. Greater awareness and understanding of this syndrome should allow more timely intervention with potential for improving long-term outcome.

Authors+Show Affiliations

Department of Cardiology, No. 3 People's Hospital, Shanghai Jiao Tong University School of Medicine, No. 280, Mohe Road, Baoshan District, 201900, Shanghai, China. joyoyo88@163.com.Department of Cardiology, No. 3 People's Hospital, Shanghai Jiao Tong University School of Medicine, No. 280, Mohe Road, Baoshan District, 201900, Shanghai, China. jfzhang_dr@163.com.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

25239142

Citation

Zhou, Yaoyao, and Junfeng Zhang. "Arthrogryposis-renal Dysfunction-cholestasis (ARC) Syndrome: From Molecular Genetics to Clinical Features." Italian Journal of Pediatrics, vol. 40, 2014, p. 77.
Zhou Y, Zhang J. Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features. Ital J Pediatr. 2014;40:77.
Zhou, Y., & Zhang, J. (2014). Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features. Italian Journal of Pediatrics, 40, 77. https://doi.org/10.1186/s13052-014-0077-3
Zhou Y, Zhang J. Arthrogryposis-renal Dysfunction-cholestasis (ARC) Syndrome: From Molecular Genetics to Clinical Features. Ital J Pediatr. 2014 Sep 20;40:77. PubMed PMID: 25239142.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features. AU - Zhou,Yaoyao, AU - Zhang,Junfeng, Y1 - 2014/09/20/ PY - 2014/04/23/received PY - 2014/09/01/accepted PY - 2014/9/21/entrez PY - 2014/9/23/pubmed PY - 2016/1/13/medline SP - 77 EP - 77 JF - Italian journal of pediatrics JO - Ital J Pediatr VL - 40 N2 - UNLABELLED: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features include ichthyosis, central nervous system malformation, platelet anomalies, and severe failure to thrive. Diagnosis of ARC syndrome relies on clinical features, organ biopsy, and mutational analysis. However, no specific treatment currently exists for this syndrome. CONCLUSION: This is an overview of the latest knowledge regarding the genetic features and clinical manifestations of ARC syndrome. Greater awareness and understanding of this syndrome should allow more timely intervention with potential for improving long-term outcome. SN - 1824-7288 UR - https://www.unboundmedicine.com/medline/citation/25239142/Arthrogryposis_renal_dysfunction_cholestasis__ARC__syndrome:_from_molecular_genetics_to_clinical_features_ L2 - https://ijponline.biomedcentral.com/articles/10.1186/s13052-014-0077-3 DB - PRIME DP - Unbound Medicine ER -