Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report

Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report

Abstract Background Arthrogryposis-Renal dysfunction-Cholestasis syndrome (ARC, MIM#208085) is a rare multisystem disease due to mutations in the VPS33B and VIPAR genes, both involved in maintaining apical-basolateral cell polarity. The correlation between mutations and phenotype in the ARC Syndrome...

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Bibliographic Details
Main Authors: Alejandra Rosales, Maissa Mhibik, Paul Gissen, Oscar Segarra, Susana Redecillas, Gema Ariceta
Format: Article
Language:English
Published: BMC 2018-06-01
Series:BMC Nephrology
Subjects:
Arthrogryposis-Renal failure-Cholestasis syndrome (ARC)
VPS33B
VIPAR
Proximal tubular acidosis
Renal Fanconi
Ichthyosis
Online Access:http://link.springer.com/article/10.1186/s12882-018-0926-1

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http://link.springer.com/article/10.1186/s12882-018-0926-1

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