Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome: from molecular genetics to clinical features
نویسندگان
چکیده
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.
منابع مشابه
Novel VPS33B mutations of G514S gene cause an arthrogryposis, renal dysfunction and cholestasis syndrome
Introduction: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently attributed to mutation in VPS33B, whose product acts in intracellular trafficking. It shows wide clinical variability. The characteristic features of ARC core phenotype include arthrogryposis, spillage of various substances in the urine, and conjugated hy...
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