Hypercalcemia Infantile 1
Disease Details
Family Health Simplified
- Description
- Hypercalcemia infantile 1 is a genetic disorder characterized by abnormally high levels of calcium in the blood, often presenting in infancy with symptoms such as poor feeding, vomiting, nephrocalcinosis, and failure to thrive.
- Type
- Hypercalcemia infantile 1 is an autosomal dominant disorder.
- Signs And Symptoms
-
Hypercalcemia infantile 1, also known as idiopathic infantile hypercalcemia type 1, involves elevated calcium levels in the blood.
Signs and symptoms may include:
- Vomiting
- Dehydration
- Poor feeding
- Constipation
- Hypotonia (reduced muscle tone)
- Failure to thrive
- Irritability
- Lethargy
- Polyuria (frequent urination)
- Polydipsia (excessive thirst)
- Nephrocalcinosis (calcium deposits in kidneys)
Neurological symptoms such as seizures can also occur in severe cases. This condition is typically diagnosed in infancy. - Prognosis
- Hypercalcemia infantile 1, also known as Williams-Beuren syndrome, is a genetic disorder characterized by hypercalcemia in infancy, distinctive facial features, cardiovascular problems, and developmental delays. The prognosis varies widely depending on the severity of symptoms and related complications. Early intervention and management of hypercalcemia, along with supportive therapies for other symptoms, can improve quality of life and outcomes. Regular monitoring and a multidisciplinary approach are important for managing the condition effectively.
- Onset
- Hypercalcemia infantile 1 typically has an onset in infancy or early childhood.
- Prevalence
- The prevalence of hypercalcemia infantile 1 is not precisely documented due to its rarity. It is considered to be an extremely rare genetic disorder.
- Epidemiology
- Hypercalcemia infantile 1, also known as idiopathic infantile hypercalcemia (IIH) type 1, is a rare genetic disorder. The epidemiology is not well defined due to its rarity, but it is associated with mutations in the CYP24A1 gene, which encodes an enzyme responsible for breaking down active vitamin D metabolites. Reports suggest that this condition can present in infancy with symptoms such as failure to thrive, vomiting, dehydration, and nephrocalcinosis. It is most commonly identified in populations with higher rates of consanguinity due to the autosomal recessive inheritance pattern.
- Intractability
- Hypercalcemia_Infantile_1, also known as Familial Hypocalciuric Hypercalcemia Type 1 (FHH1), is not typically intractable. It is generally a benign condition and can often be managed with observation and monitoring. Severe complications are rare, and invasive treatments are usually not necessary.
- Disease Severity
- Hypercalcemia infantile 1, also known as idiopathic infantile hypercalcemia, is a rare genetic disorder typically caused by mutations in the CYP24A1 gene. The severity of the disease can vary. Some infants may experience severe symptoms such as vomiting, dehydration, failure to thrive, nephrocalcinosis, and hypercalciuria, while others may have milder symptoms or be asymptomatic. Severe cases can lead to complications like kidney stones and impaired kidney function. Early diagnosis and management are crucial to prevent long-term complications.
- Pathophysiology
-
**Pathophysiology of Hypercalcemia Infantile 1:**
Hypercalcemia Infantile 1 is caused by mutations in the gene CYP24A1, which encodes the enzyme 25-hydroxyvitamin D-24-hydroxylase. This enzyme is responsible for the degradation of active vitamin D metabolites. Mutations in CYP24A1 lead to a reduction or loss of enzyme activity, resulting in the accumulation of active vitamin D metabolites. The increased levels of these metabolites enhance intestinal calcium absorption and bone resorption, leading to elevated serum calcium levels. The excessive calcium in the blood can cause a variety of symptoms and, if untreated, can lead to serious health complications. - Carrier Status
- Hypercalcemia infantile 1 is a genetic condition caused by mutations in the CASR gene. Carrier status refers to individuals who have one copy of a mutated gene but typically do not show symptoms of the disease. There is no currently established association between this specific genetic condition and carrier status leading to nan values or undefined status in carriers.
- Mechanism
-
Hypercalcemia infantile 1, also known as idiopathic infantile hypercalcemia, is mainly caused by mutations in the CYP24A1 gene, which encodes the enzyme 24-hydroxylase. This enzyme is crucial for the breakdown of active forms of vitamin D, including 1,25-dihydroxyvitamin D3. The molecular mechanisms involve the following:
1. **Impaired Vitamin D Catabolism:** Mutations in CYP24A1 reduce or eliminate the activity of 24-hydroxylase. This leads to decreased degradation of 1,25-dihydroxyvitamin D3, resulting in elevated levels of active vitamin D.
2. **Increased Calcium Absorption:** High levels of 1,25-dihydroxyvitamin D3 increase calcium absorption in the intestines and reabsorption in the kidneys, leading to hypercalcemia (elevated calcium levels in the blood).
Therefore, the primary molecular mechanism is the impaired degradation of active vitamin D due to CYP24A1 gene mutations, causing increased calcium absorption and resulting in hypercalcemia. - Treatment
-
Hypercalcemia infantile 1, also known as Williams syndrome, typically involves treatments focused on managing elevated calcium levels. Treatment options can include:
1. **Hydration**: Ensuring adequate fluid intake to help flush excess calcium through the kidneys.
2. **Dietary modifications**: Reducing dietary calcium and vitamin D intake to lower calcium levels.
3. **Medication**: In severe cases, drugs like diuretics, corticosteroids, or bisphosphonates might be prescribed to help reduce calcium levels.
Consulting a healthcare professional for a personalized treatment plan is crucial. - Compassionate Use Treatment
-
For Hypercalcemia Infantile 1, which is often associated with mutations in the CYP24A1 gene, managing calcium levels is critical. Compassionate use or off-label treatments are sometimes considered when conventional treatments are ineffective. Some options that might be explored include:
1. **Bisphosphonates:** These drugs, typically used to treat high calcium levels and conditions like osteoporosis, have been used off-label to lower calcium levels in patients with hypercalcemia.
2. **Glucocorticoids:** These can help reduce calcium absorption from the gut and increase calcium excretion in the kidneys. They are sometimes used off-label in cases refractory to other treatments.
3. **Cinacalcet:** This is a calcimimetic agent that can lower parathyroid hormone (PTH) levels and subsequently decrease calcium levels, although this is more commonly used for secondary hyperparathyroidism.
4. **Experimental gene therapies:** Given the genetic basis of the condition, experimental treatments targeting the CYP24A1 gene are a potential future avenue, though they are not yet widely available or clinically validated.
It is essential to work closely with a healthcare provider specializing in metabolic disorders to tailor the treatment to the individual patient's needs, weighing the benefits and risks of these options. - Lifestyle Recommendations
-
For hypercalcemia infantile 1 (also known as Infantile Hypercalcemia Type 1), the following lifestyle recommendations can be considered:
1. **Dietary Management**:
- **Limit Vitamin D and Calcium Intake**: Avoid excessive vitamin D and calcium-rich foods or supplements as they can exacerbate hypercalcemia.
- **Hydration**: Ensure proper hydration to help the kidneys excrete excess calcium.
2. **Regular Monitoring**:
- **Medical Check-ups**: Regular blood tests to monitor calcium levels.
- **Growth and Development**: Monitor growth and developmental milestones to detect any delays or complications early.
3. **Medication Adherence**:
- Follow prescribed treatments and medications strictly as directed by a healthcare provider.
4. **Avoidance of Sun Exposure**:
- Limit prolonged sun exposure when appropriate, as sunlight can increase vitamin D levels in the body.
5. **Exercise**:
- Engage in age-appropriate physical activities to support overall health, but avoid high-impact activities that may risk bone injuries due to altered calcium metabolism.
Always collaborate with a healthcare professional for personalized guidance and adjustments in lifestyle choices based on the specific condition and needs of the infant. - Medication
-
For hypercalcemia infantile 1, also known as idiopathic infantile hypercalcemia, treatment often focuses on managing the underlying cause and symptoms. Medications that may be used include:
1. **Glucocorticoids**: To reduce calcium absorption from the gut.
2. **Bisphosphonates**: To inhibit bone resorption and reduce blood calcium levels.
3. **Calcitonin**: To lower blood calcium levels quickly in acute situations.
It's important that treatment is guided by a healthcare professional, who can tailor the approach based on the severity and specific needs of the infant. - Repurposable Drugs
- There are currently no specific repurposable drugs established for treating hypercalcemia infantile 1. Management typically involves addressing underlying causes, hydration, and use of medications like bisphosphonates or corticosteroids. In severe cases, dialysis may be necessary. Individual treatment plans should be discussed with a healthcare provider.
- Metabolites
- Hypercalcemia infantile 1, also known as Idiopathic Infantile Hypercalcemia, is often associated with abnormal levels of calcium, phosphate, and 1,25-dihydroxyvitamin D3 (the active form of Vitamin D) in the blood. In cases resulting from mutations in the CYP24A1 gene, there is typically an accumulation of 1,25-dihydroxyvitamin D3 due to impaired breakdown, which leads to elevated calcium (hypercalcemia) and potentially low parathyroid hormone (PTH) levels.
- Nutraceuticals
- Hypercalcemia infantile 1 is characterized by elevated levels of calcium in the blood of infants, often due to genetic mutations that affect calcium metabolism. Management typically involves addressing the underlying cause, such as dietary modifications or medications that regulate calcium levels. There is no established role for nutraceuticals in the treatment of hypercalcemia infantile 1.
- Peptides
- Hypercalcemia infantile 1 (HCINF1) is primarily associated with mutations in the CYP24A1 gene, which encodes the enzyme 24-hydroxylase. This enzyme is crucial for the degradation of active vitamin D metabolites. A deficiency in 24-hydroxylase activity leads to excessive levels of active vitamin D, resulting in increased calcium absorption and hypercalcemia. Peptide-based therapies have not been established or recognized as a standard treatment for this condition. The standard approach usually involves managing vitamin D levels and calcium intake.