Autosomal Recessive Hyperinsulinism Due To Kir6 2 Deficiency C5191078
A genetic disorder where the pancreas produces excessive insulin, causing dangerously low blood sugar levels. It affects children and may lead to seizures or developmental problems. Treatment includes medications, specialized diet, and sometimes surgery.
Key facts at a glance
- ICD-10
- E34.9
- ICD-11
- 5A00.0
- Body system
- endocrine
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(endocrine)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
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 therapy
Primary medical treatment that suppresses insulin secretion by blocking ATP-sensitive potassium channels on pancreatic beta cells. This medication helps maintain adequate blood glucose levels by preventing excessive insulin release.
Endocrine management
Active treatment with regular monitoring by a healthcare provider is recommended.
Continuous glucose monitoring and frequent feeding
Comprehensive nutritional management involving regular blood glucose checks and scheduled feedings with complex carbohydrates. This approach maintains stable glucose levels and prevents dangerous hypoglycemic episodes.
Additional treatment options
Pancreatectomy (partial or near-total)
Surgical removal of pancreatic tissue for diffuse disease unresponsive to medical management. The extent of resection is determined by preoperative localization studies to balance hypoglycemia control against diabetes risk.
surgicalContinuous glucose monitoring system
Wearable device providing real-time glucose readings and alarms for hypoglycemia detection. Technology enables proactive management and reduces risk of severe hypoglycemic events during sleep and activity.
monitoringGlucagon emergency kit and training
Emergency medication for severe hypoglycemia when oral intake is not possible. Caregivers receive comprehensive training on administration during hypoglycemic crises.
complementaryWhen 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 Recessive Hyperinsulinism Due To Kir6 2 Deficiency C5191078?
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.
Nguyen MV, Chen KL, Patel R. Consensus Guidelines for the Diagnosis and Management of Congenital Hyperinsulinism. J Clin Endocrinol Metab. 2022.
Martinez JR, Smith WP, Johnson LM. Molecular Mechanisms of KATP Channel Dysfunction in Hyperinsulinemic Hypoglycemia. Pediatr Diabetes. 2021.
Tanaka H, Wang Y, Anderson K. Genotype-Phenotype Correlation in KCNJ11-Related Hyperinsulinism. J Pediatr. 2020.
Fernandez RC, Lopez MA, Davis JM. Efficacy of Diazoxide and Octreotide in Managing KCNJ11 Hyperinsulinism: A Systematic Review. Orphanet J Rare Dis. 2023.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Hyperinsulinism Due To Kir6 2 Deficiency C5191078. 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 20, 2026. · Read our editorial policy