一例罕见的先天性多发性关节挛缩、肾功能不全和胆汁淤积（ARC）综合征病例及肾脏受累情况的综述：答案 - Suppr

An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers.

作者信息

Duong Minh Dien, Rose Chelsi M, Reidy Kimberly J, Del Rio Marcela

机构信息

Albert Einstein College of Medicine, Department of Pediatrics, Divisions of Nephrology and Genetics Bronx, Children's Hospital at Montefiore, Bronx, NY, 10467, USA.

West Virginia School of Osteopathic Medicine, Lewisburg, WV, 24901, USA.

出版信息

Pediatr Nephrol. 2020 Feb;35(2):249-251. doi: 10.1007/s00467-019-04338-z. Epub 2019 Aug 28.

DOI:10.1007/s00467-019-04338-z

PMID:31463586

Abstract

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An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers.一例罕见的先天性多发性关节挛缩、肾功能不全和胆汁淤积（ARC）综合征病例及肾脏受累情况的综述：答案

Pediatr Nephrol. 2020 Feb;35(2):249-251. doi: 10.1007/s00467-019-04338-z. Epub 2019 Aug 28.

An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions.关节挛缩、肾功能障碍和胆汁淤积（ARC）综合征的罕见病例及对肾脏受累的回顾：问题。

Pediatr Nephrol. 2020 Feb;35(2):247-248. doi: 10.1007/s00467-019-04336-1. Epub 2019 Aug 28.

Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report.严重肾性范可尼综合征及治疗策略：关节挛缩-肾功不良-胆汁淤积综合征 1 例报告

BMC Nephrol. 2018 Jun 15;19(1):144. doi: 10.1186/s12882-018-0926-1.

Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report.关节挛缩-肾小管功能障碍-胆汁淤积综合征：新生儿胆汁淤积的一个病因。病例报告。

Arch Argent Pediatr. 2016 Feb;114(1):e9-12. doi: 10.5546/aap.2016.eng.e9.

Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.关节挛缩、肾功能不全和胆汁淤积综合征中的肾小球受累情况。

Clin Kidney J. 2013 Apr;6(2):183-8. doi: 10.1093/ckj/sfs182. Epub 2013 Jan 29.

Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.关节挛缩、肾小管酸中毒和胆汁淤积（ARC）综合征：两例新病例及文献复习

Clin Dysmorphol. 2005 Oct;14(4):191-196.

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.先天性多发性关节挛缩症-肾功能不全-胆汁淤积（ARC）综合征：从分子遗传学到临床特征

Ital J Pediatr. 2014 Sep 20;40:77. doi: 10.1186/s13052-014-0077-3.

Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report.

Eur J Pediatr. 2009 Aug;168(8):995-8. doi: 10.1007/s00431-008-0860-5. Epub 2008 Oct 30.

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.VIPAR 基因突变导致关节挛缩、肾功能障碍和胆汁淤积综合征表型，伴有上皮极化缺陷。

Nat Genet. 2010 Apr;42(4):303-12. doi: 10.1038/ng.538. Epub 2010 Feb 28.

Wide spectrum of clinical features in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome.关节挛缩-肾小管功能障碍-胆汁淤积综合征一例的广泛临床特征

Arch Iran Med. 2008 Sep;11(5):569-72.

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Two novel mutations in the gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report.一名患有关节挛缩、肾功能不全和胆汁淤积综合征1的中国患者该基因中的两个新突变：病例报告

World J Clin Cases. 2022 Oct 26;10(30):11016-11022. doi: 10.12998/wjcc.v10.i30.11016.

One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype.一例表现为不完全和轻度表型的关节挛缩-肾功能障碍-胆汁淤积（ARC）综合征。

BMC Nephrol. 2022 Jun 27;23(1):228. doi: 10.1186/s12882-022-02851-2.

Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel Variant.一种新型变异导致的关节挛缩、肾功能不全和胆汁淤积综合征1的轻度表型

Front Genet. 2022 Feb 25;13:796759. doi: 10.3389/fgene.2022.796759. eCollection 2022.

A Novel Mutation of 33 Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype.一种与先天性多发性关节挛缩症-肾功能不全-胆汁淤积症表型相关的33基因新突变。

Case Rep Genet. 2020 Sep 24;2020:8872294. doi: 10.1155/2020/8872294. eCollection 2020.

本文引用的文献

BMC Nephrol. 2018 Jun 15;19(1):144. doi: 10.1186/s12882-018-0926-1.

The Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage.血小板和ε-氨基己酸在关节挛缩、肾功能不全和胆汁淤积（ARC）综合征相关出血中的作用。

Pediatr Blood Cancer. 2016 Mar;63(3):561-3. doi: 10.1002/pbc.25814. Epub 2015 Oct 27.

Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.关节挛缩、肾功能不全和胆汁淤积综合征中的肾小球受累情况。

Clin Kidney J. 2013 Apr;6(2):183-8. doi: 10.1093/ckj/sfs182. Epub 2013 Jan 29.

Ital J Pediatr. 2014 Sep 20;40:77. doi: 10.1186/s13052-014-0077-3.

Liver transplant in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome with severe intractable pruritus.关节挛缩-肾小管功能障碍-胆汁淤积综合征伴严重难治性瘙痒患者的肝移植

Exp Clin Transplant. 2013 Jun;11(3):290-2. doi: 10.6002/ect.2012.0202. Epub 2012 Nov 22.

ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus.

Saudi J Kidney Dis Transpl. 2012 Jul;23(4):804-9. doi: 10.4103/1319-2442.98165.

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.ARC 综合征中基因型、临床表型和运输蛋白细胞内定位之间的关联。

Hum Mutat. 2012 Dec;33(12):1656-64. doi: 10.1002/humu.22155. Epub 2012 Aug 6.

Agranular platelets as a cardinal feature of ARC syndrome.

J Pediatr Hematol Oncol. 2010 May;32(4):253-8. doi: 10.1097/MPH.0b013e3181c3a8d0.

Clinical characteristics and VPS33B mutations in patients with ARC syndrome.ARC综合征患者的临床特征及VPS33B基因突变

J Pediatr Gastroenterol Nutr. 2009 Mar;48(3):348-54. doi: 10.1097/mpg.0b013e31817fcb3f.

Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report.

Eur J Pediatr. 2009 Aug;168(8):995-8. doi: 10.1007/s00431-008-0860-5. Epub 2008 Oct 30.

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An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers.

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