TY  - JOUR
A1  - Rosales, A
A1  - Mhibik, M
A1  - Gissen, P
A1  - Segarra, O
A1  - Redecillas, S
A1  - Ariceta, G
Y1  - 2018/06/15/
N1  - © The Author(s) 2018. Open Access: This article is distributed under the terms of the Creative Commons Attribution 4.0
International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and
reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to
the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver
(http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
UR  - https://doi.org/10.1186/s12882-018-0926-1
EP  - 5
ID  - discovery10054004
N2  - 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 is not well described. We report on a 6 year old patient who presented with severe renal Fanconi as first manifestation of ARC related to a combined de novo mutation in the VPS33B gene. //

Case presentation:
A 6 year old girl presented during the first year of life with severe renal Fanconi as the first manifestation of ARC-Syndrome. This case presents all defining features of ARC syndrome (including liver, skin and articular manifestations) with predominantly renal impairment at presentation. This novel mutation may be associated with a pronounced renal phenotype in ARC. Furthermore, we report on the successful use of LDL-Apheresis and biliodigestive derivation for treatment of cholestatic pruritus with encouraging results. //

Conclusion:
ARC is a heterogeneous disorder with early mortality. This case report contributes to a better understanding of this rare disorder, describes a novel mutation in the VPS33B gene and presents an innovative rescue treatment approach.
AV  - public
KW  - Arthrogryposis-Renal failure-Cholestasis syndrome (ARC)
KW  -  VPS33B
KW  -  VIPAR
KW  -  Proximal tubular acidosis
KW  -  Renal
Fanconi
KW  -  Ichthyosis
KW  -  Cholestasis
KW  -  Pruritus
KW  -  LDL-apheresis
SN  - 1471-2369
PB  - BMC
VL  - 19
JF  - BMC Nephrology
TI  - Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report
ER  -