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Persistent neonatal hyperinsulinism
P M Mathew1, J M Young, Y K Abu-Osba
1Department of Paediatrics, Dhahran Health Center, Saudi Arabia.
Insights
Persistent neonatal hyperinsulinism (PNH) affects 1 in 2,675 births in Saudi Arabia. High incidence and family history suggest an autosomal recessive inheritance pattern for this rare condition.
Area of Science:
- Medical Genetics
- Neonatology
- Pediatric Endocrinology
Background:
- Persistent neonatal hyperinsulinism (PNH) is a rare but serious cause of hypoglycemia in newborns.
- Understanding the genetic and epidemiological factors of PNH is crucial for early diagnosis and management.
Purpose of the Study:
- To determine the incidence of persistent neonatal hyperinsulinism (PNH) in a Saudi Arabian population.
- To investigate potential genetic inheritance patterns of PNH based on observed familial clustering and consanguinity.
Main Methods:
- Retrospective analysis of infant births over a 3-year period in Saudi Arabia.
- Epidemiological data collection including diagnosis of PNH, infant origin, and family history.
Main Results:
- Seven cases of PNH were diagnosed in 18,726 births, yielding an incidence of 1 in 2,675.
- A significant proportion of affected infants were of Saudi Arabian origin, with notable consanguinity and sibling occurrences.
Conclusions:
- The incidence of PNH in this Saudi Arabian cohort is higher than typically reported globally.
- Observed familial aggregation and consanguinity strongly suggest an autosomal recessive mode of inheritance for PNH in this population.
Abstract:
Over a 3-year period, the diagnosis of persistent neonatal hyperinsulinism (PNH) was made in seven infants, from an unselected cohort of 18,726 births, all of Saudi Arabian origin. Thus the incidence of PNH was one in 2,675 births. The high incidence, associated consanguinity, and occurrence in siblings suggest that PNH may be inherited as an autosomal recessive disorder.