Infantile hypertrophic pyloric stenosis, IHPS

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IHPS imply an enlargement of the pyloric muscle and it is one common cause of surgery in neonates due to cascade-like vomiting. IHPS is a complex disorder caused by both genetic and environmental factors. Our research aims at identifying genes and environmental factors that contribute to the disorder.

Research group leader:

Professor/senior physician

Agneta Nordenskjöld


Genetic and epidemiological studies of infantile hypertrophic pyloric stenosis, IHPS

DNA samples from families with more than one case of IHPS are studied with so called sib-pair analysis that is used to identify which chromosomal regions that affected individuals have inherited together. These so called candidate gene regons can harbour genes for IHPS. Candidate genes are chosen from these regions or with respect to some possible background mechanism and analyzed for mutation/ association to normal genetic variants, so called SNPs

Earlier studies from our research group have shown a parallell and reduced incidence of IHPS and sudden infant death, SIDS, which speaks in favour of shared environmental risk factors. We are planning to expand this study in other populations.

Anna Svenningsson, PhD
Agneta Nordenskjöld, Professor MD, PhD, Main supervisor
Kristina Lagerstedt and Johanna Lundin, Co-supervisors