autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

This condition is characterized by diazoxide-sensitive diffuse hyperinsulinism, leading to mild hypoglycemic episodes. The known synonyms include autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency and dominant KATP hyperinsulinism due to Kir6.2 deficiency. There are currently no orphan drug designations under investigation.

Patients and caregivers are encouraged to seek genetic counseling to understand the implications of this inherited condition. Connecting with rare disease registries such as NORD or Orphanet may provide additional resources and support. Finding specialists experienced in treating hyperinsulinism can also be beneficial.