Arthrogryposis-renal dysfunctional cholestasis Q89.7

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

ARC Syndrome; Arthrogryposis - Kidney dysfunction cholestasis syndrome; arthrogryposis-renal dysfunction-cholestasis; Arthrogryposis-renal dysfunction-cholestasis syndromes; Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome; OMIM: 208085; OMIM : 613404

History
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Lutz-Richner and Landolt 1973

Definition
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Arthrogryposis renal dysfunction cholestasis syndrome is a rare, apparently globally occurring, autosomal recessive inherited, multisystemic disease with the obligatory symptoms of neurogenic arthrogryposis multiplex congenita, renal tubulopathy and neonatal cholestasis with low activity of gamma glutamyl transferase in serum.

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Occurrence/Epidemiology
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Worldwide < 100 patients have been described.

Etiopathogenesis
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In most cases a homozygous mutation (c.178-3T>A) was found in the VPS33B gene (15q26.1). Furthermore, mutations in the VIPAS39 gene are described (Huang DG et al. 2017; Chai M et al. 2018). The VPS33B gene is involved in intracellular protein transport and membrane fusion.

Clinical features
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The phenotype is different, even in the same family, and since not all patients have all three main symptoms, the syndrome is not always recognized. The renal tubular dysfunction ranges from isolated renal tubular acidosis to the fully developed Fanconi syndrome (polyuria, aminoaciduria, glycosuria, phosphaturia and bicarbonate loss). Abnormalities of the liver are in different combinations cholestasis, hypoplasia of the intrahepatic bile ducts and deposition of lipofuscin.

Other symptoms are: severe failure to thrive, platelet dysfunction (with possible facial dysmorphia (deep-set ears, rather mild ichthyosis, sagging skin, high palatal arch, beak-shaped nose, small anterior fontanel), jaundice, diarrhoea, susceptibility to infections with recurrent fever attacks, hypothyroidism, heart malformations, brain malformations and sensorineural hearing loss (Ilhan O et al. 2016).

Therapy
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There is no specific therapy. Most infants have a life expectancy of < 1 year despite intensive treatment. Patients who survive longer have cirrhosis of the liver and are severely developmentally retarded.

Literature
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  1. Chai M et al (2018) Identification of genes and signaling pathways associated with arthrogryposis-renal dysfunction-cholestasis syndrome using weighted correlation network analysis. Int J Mol Med 42:2238-2246.
  2. Huang DG et al (2017) Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome. Zhongguo Dang Dai Er Ke Za Zhi 19:1077-1082.
  3. Ilhan O et al (2016) Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report. Arch Argent Pediatr 114:e9-12.
  4. Moon AT et al (2017) A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome. Pediatric Dermatol 34:e171-e173.

Outgoing links (1)

Cholestasis, intrahepatic;

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020