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Children with cyclic vomiting syndrome: phenotypes, disease burden and mitochondrial DNA analysis

Ziqing Ye1, Aijuan Xue1, Ying Huang2

  • 1Department of Gastroenterology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.

BMC Gastroenterology
|July 5, 2018
PubMed

Insights

Cyclic vomiting syndrome (CVS) in children is a disabling condition. While mitochondrial DNA (mtDNA) polymorphisms were detected in some patients, they were not significantly linked to pediatric CVS.

Area of Science:

  • Pediatric Gastroenterology
  • Mitochondrial Genetics

Background:

  • Cyclic vomiting syndrome (CVS) presents as recurrent, stereotypical vomiting episodes in children.
  • A potential association between CVS and mitochondrial DNA (mtDNA) variants has been suggested.
  • This study investigates the clinical characteristics, disease impact, and genetic factors in pediatric CVS.

Purpose of the Study:

  • To analyze the phenotype, disease burden, and treatment of pediatric CVS.
  • To investigate the role of mitochondrial DNA (mtDNA) variants in pediatric CVS.
  • To assess the association between mtDNA polymorphisms and CVS in children.

Main Methods:

  • Retrospective analysis of 42 children diagnosed with CVS at a tertiary care center.
  • Collection of data on medical history, clinical presentation, diagnostics, and treatment.
  • Mitochondrial DNA (mtDNA) sequencing performed on 13 pediatric CVS patients.

Main Results:

  • The mean age of onset was 4.0 years and diagnosis was 6.7 years.
  • Stereotypical vomiting episodes with recognizable prodromes occurred in over half of patients.
  • Mitochondrial DNA (mtDNA) polymorphisms (C16519T and G3010A) were identified in some patients, but without significant association to pediatric CVS.

Conclusions:

  • Cyclic vomiting syndrome (CVS) imposes a significant burden on affected children and families.
  • Early suspicion and prompt diagnosis are critical for managing pediatric CVS.
  • Identified mtDNA polymorphisms in some pediatric CVS cases were not significantly associated with the condition.
Abstract

Keywords:
Clinical featuresCyclic vomiting syndromeFunctional gastrointestinal disorderGeneticsMitochondrial DNAPediatric

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