What Is Idiopathic Infantile Hypercalcemia?
Idiopathic infantile hypercalcemia is an uncommon medical condition marked by elevated levels of calcium in the blood during infancy. The word "idiopathic" denotes a condition whose precise cause is unknown. Most infants affected by it are diagnosed with it within the first year of life. The disorder is characterized by a breakdown in the body's control over calcium balance. The health and development of the infant can be impacted in several ways by elevated calcium levels. The specific symptoms and severity can differ among infants who are afflicted.
Our knowledge of idiopathic infantile hypercalcemia, including its underlying genetic mechanisms and potential risk factors, is still being expanded through research. This ongoing study aims to enhance overall outcomes for infants with this condition by strengthening diagnostic techniques, treatment strategies, and treatment approaches.
What Are The Synonyms For Idiopathic Infantile Hypercalcemia?
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IIH.
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Autosomal recessive infantile hypercalcemia.
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Vitamin D hypersensitivity.
What Are The Types Of Idiopathic Infantile Hypercalcemia?
Idiopathic infantile hypercalcemia can be divided into the following types.
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Type 1: It is caused by CYP24A1 gene mutations.
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Type 2: It is caused by SLC34A1 gene mutations.
These gene mutations alter the body's calcium and phosphate balance, resulting in elevated calcium levels and the condition's corresponding symptoms.
Is Idiopathic Infantile Hypercalcemia Inherited?
Types 1 and 2 of infantile hypercalcemia are thought to be inherited autosomally recessive. This indicates that each cell's respective gene has mutations in both copies. Despite each parent having one copy of the mutated gene, individuals with this condition typically do not exhibit any symptoms. One copy of the mutated gene may cause individuals to have elevated calcium levels in their blood or urine and an increased risk of kidney stones. They do not exhibit the severe and early symptoms connected to infantile hypercalcemia types 1 and 2. The development of signs and symptoms in people with one altered gene copy may be influenced by non-genetic factors such as dietary calcium intake, vitamin D supplementation, or extended sun exposure.
What Are the Causes of Idiopathic Infantile Hypercalcemia?
Type 1 idiopathic infantile hypercalcemia is caused by mutations in the CYP24A1 gene, and type 2 idiopathic infantile hypercalcemia is caused by mutations in the SLC34A1 gene. These genes play a role in preserving the body's calcium and phosphate balance with the help of vitamin D. Mutations in these genes result in higher levels of active vitamin D, which increase calcium absorption and lead to hypercalcemia. Additional factors like calcium intake, vitamin D supplementation, and sun exposure may also affect the condition. In some cases of idiopathic infantile hypercalcemia without known gene mutations, additional unidentified genes may be involved.
What Are the Symptoms of Idiopathic Infantile Hypercalcemia?
Idiopathic infantile hypercalcemia symptoms can include:
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Vomiting.
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Polyuria (increased urine production).
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Dehydration.
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Constipation.
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Poor feeding.
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Irritability.
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Weight loss.
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Failure to thrive (inability to grow and gain weight).
What Are The Diagnostic Methods Used To Identify Idiopathic Infantile Hypercalcemia?
Diagnosing Idiopathic Infantile Hypercalcemia involves a comprehensive evaluation by a healthcare provider. It includes the following:
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Medical History of Infants: The doctor will inquire about the child's medical history, including any symptoms noted and their duration. Additionally, they will ask if there is any pertinent family history of the same conditions.
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Physical Examination: The infant will undergo a thorough physical examination to evaluate their overall health and look for any physical symptoms of hypercalcemia, such as stunted growth, dehydration, or abnormal bone development.
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Blood Test: Blood tests assess the blood's calcium, phosphorus, and other minerals concentrations. The condition's primary indicator is elevated calcium levels.
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Imaging Tests: Imaging studies, such as X-rays or bone density scans, may evaluate bone health and detect any abnormalities or signs of bone demineralization.
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Genetic Testing: This test is crucial for finding mutations in the CYP24A1 or SLC34A1 genes linked to specific types of idiopathic infantile hypercalcemia. Genetic testing can support a conclusive diagnosis by confirming the existence of particular gene mutations.
What Are The Treatment Options For Idiopathic Infantile Hypercalcemia?
The goal of treatment for idiopathic infantile hypercalcemia is to reduce and stabilize the elevated blood calcium levels. The approach may vary based on the severity of the condition and individual patient characteristics. Here are a few typical treatment methods:
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Adequate Hydration: Increasing fluid intake promotes urine output and helps flush out excess calcium from the body. Healthcare professionals may recommend more frequent feeding or additional fluids to maintain hydration.
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Dietary Changes: Adjusting the diet to limit calcium intake can be beneficial. This may involve reducing the consumption of dairy products, fortified foods, and other calcium-rich sources. A registered dietitian can guide appropriate dietary modifications while ensuring adequate nutrition.
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Regular Monitoring: Close monitoring of calcium levels and kidney function is essential. Standard blood tests are recommended to assess calcium and other relevant parameters, allowing for tracking of treatment progress and adjustment of interventions.
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Medicines: Certain medications can be prescribed to lower calcium levels. It can inhibit calcium absorption from the intestines or increase excretion through the kidneys. Examples include diuretics such as furosemide and bisphosphonates such as pamidronate.
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Genetic Counseling: Genetic counseling provides information about the genetic basis of idiopathic infantile hypercalcemia. It helps families understand inheritance patterns, assess the risk of recurrence, and make informed decisions about family planning.
How To Prevent Idiopathic Infantile Hypercalcemia?
Due to an incomplete understanding of its causes, prevention strategies for idiopathic infantile hypercalcemia need to be better established. However, the following suggestions are for everyone:
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Routine pediatric examinations to aid in early detection.
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Maintain a healthy, age-appropriate diet that includes enough calcium.
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Maintain a moderate amount of sun exposure while using sunburn prevention measures.
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Maintain adequate hydration to avoid problems.
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Families with known genetic mutations should seek genetic counseling.
Conclusion:
The complexity and rarity of idiopathic infantile hypercalcemia make diagnosis and treatment difficult. Healthcare professionals, such as pediatricians and geneticists, are critical in identifying the condition and providing appropriate care and support to affected infants and their families. Thus, it is crucial to remember that each patient should receive a customized course of care based on their unique needs and medical background. Obtaining guidance from a medical specialist experienced in managing idiopathic infantile hypercalcemia is crucial for establishing an appropriate treatment plan for each affected infant.
