What is the role of genetics in the pathogenesis of pediatric pyloric stenosis?

Updated: Nov 13, 2018
  • Author: Sathyaseelan Subramaniam, MD, FAAP; Chief Editor: Kirsten A Bechtel, MD  more...
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Answer

No specific pattern of inheritance exists, although there is likely a genetic component to IHPS development. It is more common in first-born white males of northern European ancestry and occurs more frequently in monozygotic than dizygotic twins. Children of affected parents are also affected at a higher rate (as high as 7%).

A nationwide study of nearly 2 million Danish children born between 1977 and 2008 shows strong evidence for familial aggregation and heritability of pyloric stenosis. Results of the study found a heritability rate of 87% in affected families, lending to the idea that familial aggregation may be explained by shared genes that affect responses to postnatal factors in causing pyloric stenosis. [11]


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