ArticleBMC nephrology2018
Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report.
Article in BMC nephrology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 16 citations in OpenAlex.
- One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype.BMC nephrology · 2022Article
- Two novel mutations inFrontiers in pediatrics · 2022Article
- A New Aberration in the VPS33B Gene Leads to Full-Symptom ARCS1.The American journal of case reports · 2021Article
- Metformin alleviates cholestasis-associated nephropathy through regulating oxidative stress and mitochondrial function.Liver research (Beijing, China) · 2021Article
- VPS33B suppresses lung adenocarcinoma metastasis and chemoresistance to cisplatin.Genes & diseases · 2021Article
- Suppression of cirrhosis-related renal injury by N-acetyl cysteine.Current research in pharmacology and drug discovery · 2020Article
- An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers.Pediatric nephrology (Berlin, Germany) · 2020Article
- A Novel Mutation ofCase reports in genetics · 2020Article
- A novel mutation inJIMD reports · 2019Article
- VPS33B interacts with NESG1 to modulate EGFR/PI3K/AKT/c-Myc/P53/miR-133a-3p signaling and induce 5-fluorouracil sensitivity in nasopharyngeal carcinoma.Cell death & disease · 2019Article
- Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney.BMJ case reports · 2018Article
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Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundArthrogryposis-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.
conclusionARC 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.
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