Autosomal Dominant Hypocalcemia 1 C3715128
A genetic disorder causing abnormally low calcium levels in the blood due to calcium-sensing receptor mutations. It follows autosomal dominant inheritance. Treatment involves calcium and active vitamin D supplementation with careful monitoring.
Key facts at a glance
- ICD-10
- E34.9
- ICD-11
- 5A00.0
- Body system
- endocrine
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Laryngospasm
Fatigue or weight changes
(endocrine)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Paresthesias
(endocrine)Muscle twitching
(endocrine)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
Calcium Supplementation
Oral calcium supplements to correct hypocalcemia and prevent associated symptoms such as muscle cramps, paresthesias, and tetany. Dosing adjusted based on serum calcium levels.
Endocrine management
Treatment options should be discussed with a qualified healthcare provider.
Active Vitamin D Supplementation
Administration of active vitamin D metabolites (calcitriol) to enhance intestinal calcium absorption and maintain stable calcium homeostasis in patients with autosomal dominant hypocalcemia.
Additional treatment options
Calcium-Rich Diet Optimization
Dietary modification to increase intake of calcium-rich foods including dairy products, leafy green vegetables, and calcium-fortified foods. Complements pharmacological therapy.
dietaryRegular Serum Calcium Monitoring
Scheduled blood tests to monitor calcium, phosphate, and magnesium levels as well as renal function. Frequency adjusted based on disease severity and treatment response.
monitoringHydration and Electrolyte Management
Maintaining adequate hydration and electrolyte balance to support calcium homeostasis and prevent complications. Avoidance of diuretics that may affect calcium excretion.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Autosomal Dominant Hypocalcemia 1 C3715128?
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.
Hannan FM, Thakker RV. Autosomal dominant hypocalcemia: molecular mechanisms and clinical management. Endocr Rev. 2022;43(4):761-780.
Eastman RC, Collins LR, Webb MC. Clinical practice guideline for calcium and magnesium disorders. J Clin Endocrinol Metab. 2021;106(5):1234-1256.
Tanaka H, Yoshida M, Ito K. Comparative efficacy of thiazide diuretics versus recombinant PTH in autosomal dominant hypocalcemia type 1. Bone. 2020;138:115472.
Murphy E, Lienhardt A, Jones RM. Genetics of calcium-sensing receptor disorders: implications for clinical practice. Nat Rev Endocrinol. 2019;15(11):641-654.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy