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Infantile hypertrophic pyloric stenosis: An association in twins?
Gaby Yang1, Guy Brisseau, Natalie L Yanchar
1Division of Pediatric General Surgery, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia.
Insights
The cause of infantile hypertrophic pyloric stenosis (IHPS) is unclear, but twin studies show a high concordance rate. Examining the unaffected twin is recommended when IHPS is diagnosed in one twin.
Area of Science:
- Pediatric Gastroenterology
- Twin Studies
- Genetics and Environmental Factors
Background:
- The etiology of infantile hypertrophic pyloric stenosis (IHPS) is largely unknown.
- Potential risk factors include birth rank, maternal age, sex, family history, and twin zygosity.
- Theories involve enteric neuronal damage and nitric oxide synthase dysfunction, suggesting environmental influences.
Observation:
- A study examined four cases of concordant IHPS in twins (three dizygotic, one monozygotic).
- A time lag was observed between symptomatic onset in affected twins.
- Early sonographic confirmation in one case led to timely surgical intervention.
Findings:
- The high concordance rate of IHPS in twins is undeniable, regardless of the debated genetic or environmental origins.
- This suggests a significant shared predisposition or exposure between twins.
Implications:
- Empirical evidence supports investigating the asymptomatic co-twin when IHPS is diagnosed in one twin.
- This approach may facilitate earlier diagnosis and intervention for the other twin.
- Further research into shared environmental or genetic factors in twins is warranted.
Background:
The etiology of infantile hypertrophic pyloric stenosis (IHPS) remains a mystery. Some suspected risk factors include birth rank, maternal age, sex, family history and monozygosity in twins. Various theories attempt to explain the etiology of IHPS. Scientific research suggests that enteric neuronal damage and nitric oxide synthase dysfunction may be implicated, but the consensus is that environmental modification must exist to account for the variability in its occurrence.
Method:
Four cases of concordant occurrences of IHPS in twins were examined to determine the history and outcome of IHPS development in twins. Three sets were dizygotic and one was monozygotic. Of the eight infants, three were female, including the one monozygotic pair. In all four cases, a time lag existed between the development of symptomatic onset of IHPS in twin A and twin B. In one set, sonographic confirmation, performed because of IHPS diagnosis in the twin sibling, occurred concurrently with onset of vomiting, leading to early surgery before fluid and electrolyte imbalances developed.
Conclusions:
Despite the lack of agreement as to whether the cause of IHPS is genetic, environmental or both, the high concordance rate seen in twins is indisputable. Thus, the empirical evidence provides credence to consider examining the asymptomatic co-twin when one of the twins presents with IHPS.
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