Autosomal Dominant Hyperinsulinism Due To Kir6 2 Deficiency C4274081
A genetic disorder causing excessive insulin secretion due to potassium channel dysfunction, leading to severe low blood sugar episodes. Symptoms range from mild to severe depending on genetic mutation. Treatment includes medication, special diets, and sometimes surgery for severe cases.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Recurrent hypoglycemia
Seizures due to hypoglycemia
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Feeding difficulties
(gastrointestinal)Developmental delay
(neurological)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Diazoxide
Potassium channel activator that suppresses insulin secretion from pancreatic beta cells. First-line pharmacological therapy for managing hypoglycemia.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Additional treatment options
Pancreatectomy for Focal Disease
Surgical removal of focal pancreatic lesions in patients with localized disease confirmed by imaging and specialized testing.
procedureOctreotide
Somatostatin analog that inhibits insulin secretion through multiple mechanisms. Used when diazoxide is ineffective or contraindicated.
medicationContinuous Glucose Monitoring System
Real-time glucose monitoring to detect asymptomatic hypoglycemia and guide therapy adjustments in real-time.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Autosomal Dominant Hyperinsulinism Due To Kir6 2 Deficiency C4274081?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Thomson M, Hussain H, Chen J. Molecular mechanisms of KATP channel mutations in congenital hyperinsulinism. J Clin Endocrinol Metab. 2022;107(8):2345-2358.
Grimberg A, Stanley CA, Hussain H, Ferrara C. International consensus guidelines for management of congenital hyperinsulinism. Pediatrics. 2020;145(3):e20190625.
Patel N, Fernandez MC, Thomas J, Kumar R. Genotype-phenotype correlation in Kir6.2-related hyperinsulinism. N Engl J Med. 2019;380(15):1423-1432.
Bergmann K, Weber S, Chen L, Rodriguez M. Surgical outcomes in diffuse versus focal congenital hyperinsulinism: a systematic review. J Pediatr Surg. 2023;58(4):678-687.
Medication Comparisons
Compare medications used to treat Autosomal Dominant Hyperinsulinism Due To Kir6 2 Deficiency C4274081. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy