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

Xue, Aijuan; Huang, Ying; Wu, Qiye

doi:10.1186/s12876-018-0836-5

Cited by 15 publications

(10 citation statements)

References 40 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Moreover, the annual average economic burden per patient (and family), including emergency department visits, hospital admission, diagnostic investigations, and missed work, is significantly high. 11,16 This aspect is noteworthy if it is considered that CVS is not an exclusively pediatric disorder but, in some cases, persists lifelong or starts during adulthood.…”

Section: Conclusion and Inferencesmentioning

confidence: 99%

“…Despite a good prognosis, CVS may be a severe and debilitating condition, and significantly affect the long‐term quality of life of children and their families. Moreover, the annual average economic burden per patient (and family), including emergency department visits, hospital admission, diagnostic investigations, and missed work, is significantly high 11,16 …”

Section: Introductionmentioning

confidence: 99%

“…[3][4][5] CVS typically begins in childhood, with a mean age of onset of 3.5-7 years and a slightly higher prevalence in females vs. males (86 vs. 57%; female/male ratio 1.3:1). [3][4][5][6] Cyclic vomiting syndrome is an episodic disorder of the braingut axis, and a variety of underlying pathogenic mechanisms have been postulated, 2,[7][8][9][10][11] including hypothalamic-pituitary-adrenal axis activation, episodic autonomic dysfunction (likely secondary to genetic defects in axonal transport or energy production in autonomic neurons), polymorphism mitochondrial DNA variants coupled with nuclear DNA single gene variants in ion channel receptors or in neurotransmitter modulators, some of which have been more commonly seen in pediatric CVS rather than in healthy children. 2 However, more than 100 years after its first description in 1861, 12 CVS has still unclear pathogenesis.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Clinical features and long‐term outcomes in pediatric cyclic vomiting syndrome: A 9‐year experience at three tertiary academic centers

Dipasquale

Falsaperla

Bongiovanni

et al. 2021

Neurogastroenterology Motil

View full text Add to dashboard Cite

Background: Pediatric cyclic vomiting syndrome (CVS) is a little-known clinical condition, frequently diagnosed with delay. This study aims to describe the clinical presentation and management and to define possible predictive factors of the disease outcome. Methods:In this retrospective study, all children who were diagnosed with CVS during the period 2010-2019 in three tertiary academic centers were included. The association between clinical variables and outcomes was investigated.Key Results: Fifty-seven children were included (male/female ratio 1.3:1; mean age at diagnosis 8.2 years). At the time of diagnosis, 63% of children had at least one episode every month. One or more prodromes were reported by 75% of patients. Family history of migraine was reported for 47% of children. Nearly, all of the children were started on prophylactic treatment. The median follow-up period was 29 months ± 15.Overall, 56% of children had resolution of vomiting. Twenty-six percent of children developed migraine. There were no differences in gender, age at onset, duration of follow-up, severity, medication, family history, or trigger factors between children

show abstract

Section: Conclusion and Inferencesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

mentioning

confidence: 99%

See 1 more Smart Citation

Clinical features and long‐term outcomes in pediatric cyclic vomiting syndrome: A 9‐year experience at three tertiary academic centers

Dipasquale

Falsaperla

Bongiovanni

et al. 2021

Neurogastroenterology Motil

View full text Add to dashboard Cite

show abstract

“…48,49 However, a small study of mitochondrial DNA sequencing in Chinese children with CVS showed a much lower migraine prevalence and no clear association with these mitochondrial DNA polymorphisms. 50 Extrapolations and comparisons are complicated by the small sample size and different patient ethnicities in these studies.…”

Section: Mitochondrial Dysfunctionmentioning

confidence: 99%

Cyclic vomiting syndrome: A narrative review and guide to management

Kovacic

2021

Headache

View full text Add to dashboard Cite

Objectives/Background: Cyclic vomiting syndrome (CVS) is a disabling disorder of gut-brain interaction manifested by stereotypical and severe episodes of nausea and vomiting. Prevalence data indicate that CVS affects 1-2% of children and there has been a recent dramatic rise in diagnosed adults. Methods: This narrative review summarizes relevant literature pertaining to pediatric and adult CVS and provides a guide to management based on extensive clinical experience. Results: More timely diagnosis is facilitated by an expert consensus diagnostic approach and limited testing. Some diagnostic tests of exclusion remain essential. These include an upper gastrointestinal (GI) contrast study to exclude intestinal malrotation and basic laboratory screening. An abdominal ultrasound is recommended to exclude renal hydronephrosis in children and biliary disease in adults. Exclusion of metabolic/ genetic conditions is warranted in those with specific warning signs, presentation in infants/toddler age, and in those with refractory disease. In the absence of chronic GI symptoms, referral to a GI specialist for upper endoscopy is generally not necessary in children but recommended in adults. A large subset termed migraine-equivalent CVS display strong clinical and genetic features of migraine. A unifying pathophysiologic core concept involves neuronal hyperexcitability and aberrant central modulation of autonomic signals. This is coupled with multiple susceptibility factors including mitochondrial dysfunction/cellular energy deficits, a hyper-responsive hypothalamicpituitary-adrenal axis and many comorbidities that increase vulnerability to triggering events. CVS episodes are frequently triggered by stressors and intercurrent illnesses. Lifestyle and non-pharmacological interventions thus play a pivotal role in successful management. Pharmacological therapies are categorized into abortive, supportive/rescue, and prophylactic treatments. The majority respond particularly well to migrainefocused treatment strategies. Conclusion: Despite improved characterization and understanding, CVS remains classified as a functional disorder of brain-gut interaction that is often disjointly managed by generalists and subspecialists. Early recognition, evaluation, and management will facilitate care and improve outcomes. Further research into its natural history with

show abstract

“…Zaki et al ( 19 ) described 16519T polymorphism in 70% (odds ratio, 6.2) and concomitant polymorphisms of 16519T and 3010A in 29% (odds ratio, 17) of children with CVS. Subsequently, Ye et al ( 18 ) performed mtDNA sequencing in 13 Chinese children with CVS and showed no significant differences in the prevalence of 16519T and 3010A polymorphism in children with CVS and in the control group.…”

Section: Introductionmentioning

confidence: 99%

Association of Mitochondrial DNA Polymorphisms With Pediatric-Onset Cyclic Vomiting Syndrome

et al. 2022

View full text Add to dashboard Cite

BackgroundCyclic vomiting syndrome (CVS) is a functional gastrointestinal disorder characterized by recurrent stereotypic episodes of vomiting. The pathophysiology of CVS remains obscure. Previous studies have supported the hypotheses of mitochondrial dysfunction. However, data on association studies between mitochondrial DNA (mtDNA) polymorphisms and pediatric-onset CVS are limited and inconsistent. The aims of this study were to describe clinical characteristics, evaluate association of mtDNA polymorphisms 16519T and 3010A with pediatric-onset CVS and identify new mtDNA candidate variants.MethodsThis study involved Thai patients diagnosed with CVS according to the Rome III or IV criteria before the age of 15 years. Patients' demographic data, clinical characteristics, previous investigations and treatment outcomes were obtained. Blood samples were collected for next-generation (whole exome) sequencing, followed by analysis of chromosome M (mitochondrial. Variants were filtered according to clinical significance using ClinVar and MITOMAP. mtDNA polymorphisms in 148 normal Thai individuals were used as controls.ResultsForty-eight children were enrolled in the clinical study, and 30 participated in the genetic analysis. The median age at onset and median age at diagnosis was 3.0 (1.5–5.6) and 6.3 (3.0–8.6) years, respectively. Maternal history of migraine was positive in 16.7%. About 45.7% (21 of 46) of the patients achieved complete clinical remission, with the mean symptom duration of 5.9 ± 3.3 years. The prevalence of mtDNA variants 16519T and 3010A among the patient group and Thai general population (control) were as follows: 40.0% (12/30) vs. 27.7% (P = 0.18) and 6.7% (2/30) vs. 0.7% (P = 0.07), respectively. Five known pathogenic variants were identified in 6 patients, including mtDNA 8528C in one patient who also had infantile hypertrophic cardiomyopathy. Six likely pathogenic variants were found but without statistical significance. We identified 11 variants with significant prevalence in the patient group. Though, these variants were classified as variants of unknown significance (VUS), several of them were located in mt functional regions and therefore they deserve further investigations as new candidates for association with pediatric CVS.ConclusionThere were no associations of mtDNA polymorphisms 16519T and 3010A with CVS in our pediatric cohort. Five pathogenic variants and 11 VUS were found associated with pediatric-onset CVS.

show abstract

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

Cited by 15 publications

References 40 publications

Clinical features and long‐term outcomes in pediatric cyclic vomiting syndrome: A 9‐year experience at three tertiary academic centers

Clinical features and long‐term outcomes in pediatric cyclic vomiting syndrome: A 9‐year experience at three tertiary academic centers

Cyclic vomiting syndrome: A narrative review and guide to management

Association of Mitochondrial DNA Polymorphisms With Pediatric-Onset Cyclic Vomiting Syndrome

Contact Info

Product

Resources

About