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Published on: August 25, 2015
Familial hiatus hernia and gastro-oesophageal reflux
1Department of Paediatric Surgery, Hospital for Sick Children, London, UK.
Insights
This study identifies a genetic link in sliding hiatus hernias, suggesting an autosomal dominant inheritance pattern. The condition in this family required surgical intervention due to persistent gastro-oesophageal reflux.
Area of Science:
- Medical genetics
- Gastroenterology
- Pediatric surgery
Background:
- Sliding hiatus hernia is a condition where a portion of the stomach protrudes through the diaphragm.
- Gastro-oesophageal reflux is a common complication associated with hiatus hernias, particularly in infants.
- Treatment for severe or persistent gastro-oesophageal reflux often involves surgical intervention.
Observation:
- A familial aggregation of sliding hiatus hernia was observed, affecting a father and three children.
- Affected individuals presented with neonatal-onset gastro-oesophageal reflux.
- Medical therapy for gastro-oesophageal reflux was unresponsive in all affected family members.
Findings:
- The observed family pattern suggests a strong hereditary component for sliding hiatus hernia.
- The inheritance pattern is consistent with an autosomal dominant mode of transmission.
- The condition necessitated anti-reflux surgery in all affected individuals.
Implications:
- Understanding the genetic basis of sliding hiatus hernia can aid in early diagnosis and genetic counseling.
- This finding highlights the potential for genetic factors influencing the severity and treatment response of infant hiatus hernias.
- Further research into the specific genes involved could lead to targeted therapies for hereditary hiatus hernia.
Abstract:
This report describes a family in which the father and three children had a sliding hiatus hernia. In each case there was gastro-oesophageal reflux from the neonatal period which proved unresponsive to medical therapy, ultimately requiring anti-reflux surgery. The trait in this family supports an autosomal dominant genetic component to the infant hiatus hernia.
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