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Autosomal Dominant Hypocalcemia

Disease Details

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Description: Autosomal dominant hypocalcemia is a genetic disorder characterized by low levels of calcium in the blood, leading to muscle cramps and spasms (tetany), seizures, and other symptoms.
Type: Autosomal dominant hypocalcemia is an autosomal dominant disorder, which means it is inherited in a manner where only one copy of the mutated gene from either parent is sufficient to cause the condition.
Signs And Symptoms: Sure, here are the signs and symptoms of Autosomal Dominant Hypocalcemia:

1. Hypocalcemia (low calcium levels in the blood)
2. Hyperphosphatemia (elevated phosphate levels in the blood)
3. Muscle cramps or spasms (tetany)
4. Seizures
5. Numbness or tingling, particularly around the mouth or in the extremities
6. Fatigue
7. Irritability
8. Developmental delay in children
9. Short stature
10. Dental anomalies (such as delayed tooth eruption or enamel defects)

These symptoms can vary in severity and may be triggered or exacerbated by other conditions like infections or stress. Management typically involves careful monitoring and, in some cases, calcium and vitamin D supplementation.
Prognosis: Prognosis for autosomal dominant hypocalcemia generally varies depending on the severity and management of the condition. With proper medical management, including calcium and vitamin D supplementation, many individuals can maintain normal calcium levels and prevent complications. However, untreated or poorly managed cases can lead to conditions such as seizures, muscle cramps, and cardiac issues. Regular monitoring and follow-up with a healthcare provider are important for optimal outcomes.
Onset: Autosomal dominant hypocalcemia typically has an onset in infancy or early childhood. Symptoms may include seizures, muscle cramps, and spasms due to low calcium levels.
Prevalence: The prevalence of autosomal dominant hypocalcemia is not well defined but is considered to be quite rare. Precise data on prevalence is not available.
Epidemiology: Autosomal Dominant Hypocalcemia (ADH) is a rare genetic disorder characterized by low levels of calcium in the blood. The exact prevalence is not well-documented due to its rarity, but it is considered an uncommon condition. Cases have been reported worldwide, with no significant differences in incidence across different populations. The disorder typically arises from mutations in the CASR gene, which encodes the calcium-sensing receptor. This mutation affects calcium homeostasis, leading to hypocalcemia.
Intractability: Autosomal Dominant Hypocalcemia (ADH) is not considered intractable. Although it can be a chronic condition requiring lifelong management, it is generally treatable with appropriate medical care. Treatment typically involves the use of calcium supplements and active vitamin D analogs to manage and maintain normal calcium levels in the blood. Regular monitoring and adjustments in treatment help manage symptoms and prevent complications.
Disease Severity: Autosomal dominant hypocalcemia is typically a relatively mild disorder. However, disease severity can vary among affected individuals. Some may experience mild symptoms, while others might have more significant complications such as muscle cramps, twitching, or seizures due to low calcium levels. Regular monitoring and appropriate management can help mitigate these symptoms and improve quality of life.
Healthcare Professionals: Disease Ontology ID - DOID:0090109
Pathophysiology: Autosomal dominant hypocalcemia (ADH) is a genetic disorder caused primarily by mutations in the calcium-sensing receptor (CASR) gene. These mutations lead to a heightened sensitivity of the parathyroid gland to calcium levels. As a result, the parathyroid glands inappropriately secrete lower levels of parathyroid hormone (PTH), leading to hypocalcemia. Additionally, it causes renal calcium loss due to increased calcium reabsorption in the kidneys being suppressed. This disrupts normal calcium homeostasis, resulting in the characteristic low levels of calcium in the blood.
Carrier Status: Autosomal dominant hypocalcemia is a condition where individuals typically have a 50% chance of passing the disorder to each of their offspring if they carry the mutation. In this context, there isn't a "carrier" status as seen in autosomal recessive conditions because having one copy of the mutated gene is sufficient to cause the disorder.
Mechanism: Autosomal Dominant Hypocalcemia (ADH) is primarily characterized by low calcium levels in the blood due to dysregulation of calcium homeostasis.

**Mechanism:**
The key feature of ADH is hypocalcemia, often accompanied by hypercalciuria (excessive calcium excretion in urine) and sometimes low parathyroid hormone (PTH) levels. This condition is usually caused by mutations in the Calcium-Sensing Receptor (CASR) gene, which is crucial for the regulation of calcium levels in the body.

**Molecular Mechanisms:**
1. **CASR Gene Mutations:** The CASR gene encodes the calcium-sensing receptor, a G-protein coupled receptor primarily expressed in the parathyroid glands and kidneys. This receptor helps maintain calcium homeostasis by regulating PTH secretion and renal calcium reabsorption.

2. **Increased Receptor Sensitivity:** Mutations in the CASR gene often result in a gain-of-function, meaning the receptor becomes overly sensitive to calcium levels. This heightened sensitivity leads to:
- **Suppressed PTH Secretion:** Even when blood calcium levels are low or normal, the overactive receptor misinterprets the calcium concentration as adequate, leading to suppressed PTH secretion.
- **Increased Calcium Excretion:** The kidneys enhance calcium excretion in response to perceived high calcium levels due to the aberrant receptor function.

This altered receptor activity disrupts normal calcium balance, causing persistent hypocalcemia and related clinical symptoms.
Treatment: Treatment for autosomal dominant hypocalcemia typically involves managing calcium levels. This can include:

1. **Calcium Supplements:** Oral calcium supplements to help maintain normal calcium levels in the blood.
2. **Active Vitamin D Analogues:** Medications like calcitriol or alphacalcidol to increase calcium absorption from the gut.
3. **Monitoring:** Regular monitoring of blood calcium and magnesium levels to adjust treatment as needed.
4. **Thiazide Diuretics:** In some cases, these may be used to reduce urinary calcium excretion.

Note that treatment plans should be tailored to the individual patient, often under the guidance of a healthcare professional specializing in endocrinology or metabolic disorders.
Compassionate Use Treatment: Autosomal Dominant Hypocalcemia (ADH) is a rare genetic disorder characterized by low levels of calcium in the blood due to inappropriate secretion of parathyroid hormone. As of now, there are no specific compassionate use treatments, but certain off-label or experimental approaches may be considered:

1. **Calcilytics**: These are experimental drugs that act as calcium-sensing receptor antagonists. They are being studied for their potential to increase parathyroid hormone (PTH) levels and subsequently raise blood calcium levels.

2. **Thiazide Diuretics**: Off-label use of thiazide diuretics may help decrease urinary excretion of calcium and stabilize blood calcium levels.

3. **Recombinant PTH**: While not standard, recombinant parathyroid hormone might be considered in severe cases to directly raise calcium levels.

4. **Magnesium Supplementation**: This may be used to correct hypomagnesemia, which can exacerbate hypocalcemia.

These treatments should be managed by a healthcare provider with expertise in metabolic bone disorders and genetic conditions.
Lifestyle Recommendations: For autosomal dominant hypocalcemia, lifestyle recommendations typically include dietary and medical guidance to manage calcium levels effectively:

1. **Calcium-rich Diet**: Include calcium-rich foods such as dairy products, leafy green vegetables, and fortified foods to help maintain calcium levels.

2. **Vitamin D Intake**: Ensure adequate vitamin D through sunlight exposure, diet (e.g., fatty fish, fortified foods), or supplements as it helps in calcium absorption.

3. **Hydration**: Stay well-hydrated to support kidney function, which is crucial for calcium regulation.

4. **Regular Monitoring**: Regular blood tests to monitor calcium and phosphorus levels as guided by healthcare providers.

5. **Avoiding Excess Phosphate**: Limit foods high in phosphate, such as colas and processed foods, which can interfere with calcium levels.

6. **Medication Adherence**: If prescribed, consistently take medications like calcium supplements and vitamin D analogs.

7. **Physical Activity**: Engage in weight-bearing exercises, which can improve bone health.

8. **Avoiding Certain Medications**: Some medications may affect calcium levels, so inform healthcare providers about all drugs and supplements being taken.

9. **Symptom Awareness**: Be vigilant for symptoms of hypo- or hypercalcemia (such as muscle cramps, weakness, or tingling) and seek medical advice as needed.

These are general guidelines, and individuals should work closely with their healthcare provider for personalized management plans.
Medication: Autosomal dominant hypocalcemia is often managed with calcium supplements and active vitamin D analogs, such as calcitriol, to help maintain calcium levels. Thiazide diuretics may also be prescribed to reduce calcium loss in the urine. Always consult a healthcare provider for appropriate treatment.
Repurposable Drugs: Research into repurposable drugs for autosomal dominant hypocalcemia (ADH) is ongoing, but current potential options include:

1. **Teriparatide**: A form of parathyroid hormone (PTH) used to treat osteoporosis may help increase calcium levels.
2. **Calcitriol**: A form of active vitamin D that can help enhance intestinal absorption of calcium.
3. **Thiazide Diuretics**: These can reduce urinary calcium excretion, potentially helping to maintain blood calcium levels.

Further clinical trials and investigations are essential to establish the efficacy and safety of these drugs in treating ADH.
Metabolites: Autosomal dominant hypocalcemia (ADH) is characterized by low levels of calcium in the blood due to mutations in the CaSR (calcium-sensing receptor) gene. Pertinent metabolites in ADH include:

1. **Calcium**: Significantly reduced levels in the blood.
2. **Phosphate**: Levels may be elevated due to increased renal reabsorption.
3. **PTH (Parathyroid hormone)**: Typically low or inappropriately normal, despite hypocalcemia.

These metabolic changes are key in diagnosing and managing the condition.
Nutraceuticals: Autosomal dominant hypocalcemia (ADH) is a genetic condition characterized by low levels of calcium in the blood. There is limited evidence on the use of nutraceuticals (dietary supplements with health benefits) specifically for ADH. Standard treatment typically focuses on careful management of calcium and vitamin D levels to avoid complications. Patients should consult their healthcare provider before using any supplements.
Peptides: Autosomal Dominant Hypocalcemia (ADH) involves a condition where calcium levels in the blood are abnormally low. It is caused by mutations in the gene encoding the calcium-sensing receptor (CaSR). ADH is characterized by the body's heightened sensitivity to calcium, leading to reduced parathyroid hormone (PTH) secretion and consequent low calcium levels in the blood.

Regarding peptides, PTH is a central peptide involved in this condition, as its regulation is disrupted, causing the hypocalcemia.

No information exists specifically linking "nan" to ADH in this context. If "nan" refers to a different term or context, please clarify.