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Arthrogryposis–renal dysfunction–cholestasis syndrome

Ágnes Mikó1, Szendile Lóth1, Judit Müller2

  • 11 Semmelweis Egyetem, Általános Orvostudományi Kar, I. Gyermekgyógyászati Klinika Budapest, Bókay J. u. 53-54., 1083.

Orvosi Hetilap
|January 9, 2022
PubMed
Summary

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a severe genetic disorder. Genetic sequencing confirmed ARC syndrome in a neonate with a VPS33B gene mutation, highlighting the importance of early diagnosis.

Keywords:
arthrogryposisautosomal recessiveautoszomális recesszívcholestasistubulopathiatubulopathy

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Area of Science:

  • Genetics and Molecular Biology
  • Pediatrics
  • Rare Diseases

Background:

  • Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare, autosomal recessive disorder with a poor prognosis.
  • Key features include arthrogryposis, renal tubular dysfunction, and neonatal cholestasis, often accompanied by other systemic issues.
  • Early diagnosis and management are crucial for improving outcomes in affected infants.

Purpose of the Study:

  • To present a case study of a neonate diagnosed with ARC syndrome.
  • To highlight the clinical presentation and diagnostic process for ARC syndrome.
  • To emphasize the role of genetic testing in confirming the diagnosis.

Main Methods:

  • Clinical examination of a neonate presenting with suspected neuromuscular disorder.
  • Laboratory evaluations including assessment of renal function and liver function tests.
  • Peripheral blood smear analysis to evaluate platelet morphology.
  • Genetic sequencing to identify mutations in causal genes.

Main Results:

  • The neonate exhibited arthrogryposis (clubfoot), hypotonia, jaundice, tubulopathy, cholestasis, and abnormally giant platelets.
  • The infant experienced severe failure to thrive and recurrent bacterial sepsis despite nutritional support.
  • Genetic analysis revealed a homozygous VPS33B gene mutation (c.498+1G>T), confirming the diagnosis of ARC syndrome.

Conclusions:

  • The presented case aligns with the clinical phenotype of ARC syndrome.
  • VPS33B gene mutation is confirmed as the cause of ARC syndrome in this patient.
  • This case underscores the importance of comprehensive evaluation and genetic diagnostics for rare multisystem disorders.