autosomal dominant hypocalcemia 2

Autosomal dominant hypocalcemia type 2 (ADH2) is a rare genetic disorder characterized by low levels of calcium in the blood, also known as hypocalcemia. This condition is caused by heterozygous mutations in the GNA11 gene on chromosome 19p13.

Clinical Features:

• Low blood calcium levels (hypocalcemia)
• Normal or low parathyroid hormone concentrations
• Variable symptoms ranging from completely asymptomatic to limited symptoms such as cramps, asthenia, and muscle weakness

Genetic Basis:

• ADH2 is caused by heterozygous mutations in the GNA11 gene on chromosome 19p13
• The GNA11 gene plays a crucial role in regulating calcium levels in the blood

Prevalence and Inheritance:

• Autosomal dominant inheritance pattern, meaning that a child only needs to inherit one copy of the mutated gene from either biological parent to be affected by the disease
• 50% chance of passing on the mutated gene to their biological child

It's worth noting that ADH2 is a rare disorder and its clinical expression can vary widely among affected individuals. The diagnosis is often made by chance during a routine exam, and patients may present with limited symptoms or be completely asymptomatic.

References:

• [6] Autosomal dominant hypocalcemia-2 (HYPOC2) is caused by heterozygous mutation in the GNA11 gene (139313) on chromosome 19p13.
• [9] Overview; Description. An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.
• [11] Autosomal dominant hypocalcemia is primarily caused by mutations in the CASR gene; these cases are known as type 1. A small percentage of cases, known as type 2, are caused by mutations in the GNA11 gene.

Autosomal dominant hypocalcemia type 2 (ADH2) is a rare genetic disorder characterized by low levels of calcium in the blood, known as hypocalcemia. The signs and symptoms of ADH2 are generally similar to those of autosomal dominant hypocalcemia type 1.

Common Symptoms:

• Paresthesias (tingling or numbness sensations) in various parts of the body
• Carpopedal spasm (a condition characterized by spasms in the hands and feet)
• Seizures, which can be life-threatening if severe
• Hypercalciuria (excessive calcium in the urine), leading to kidney stones
• Calcifications in the basal ganglia (a part of the brain)

Other Possible Symptoms:

• Muscle cramps or weakness
• Tetany (muscle stiffness)
• Lenticular opacities (clouding of the lens in the eye)
• Refractory heart failure (heart failure that does not respond to treatment)

It's worth noting that the severity and frequency of these symptoms can vary depending on the individual and the level of calcium in their blood. Studies have shown that lower levels of calcium are associated with more severe symptoms.

References:

[1] - [5], [10], [15]

Note: The numbers in brackets refer to the search results provided, which contain information about autosomal dominant hypocalcemia type 2 and its symptoms.

Autosomal dominant hypocalcemia type 2 (ADH2) can be diagnosed through various tests, including:

• Molecular analysis: This involves testing for mutations in the GNA11 gene, which is associated with ADH2. [8][9]
• Serum calcium and PTH levels: Analysis of serum calcium and parathyroid hormone (PTH) levels can help confirm the diagnosis of hypocalcemia. [3]
• Genetic tests: Next-generation sequencing can be used to detect single nucleotide, deletion-insertion, and copy number variants in the GNA11 gene. [6][7]
• PCR amplification: Complete PCR amplification of the exons of the CASR gene can also be performed to detect mutations associated with autosomal dominant hypocalcemia. [9]

It's worth noting that diagnosis may involve a combination of these tests, and consultation with a specialist such as an endocrinologist or geneticist may be necessary.

References: [3] - Context 4 [6] - Context 6 [7] - Context 7 [8] - Context 8 [9] - Context 9

Autosomal dominant hypocalcemia type 2 (ADH2) is a rare genetic disorder characterized by an excessive secretion of parathyroid hormone (PTH), leading to hypercalcemia and other related complications. While there are no specific treatments mentioned in the search results for ADH2, I can provide some general information on the treatment approaches for similar conditions.

Treatment Overview

The primary goal of treating autosomal dominant hypocalcemia type 2 is to manage the symptoms and prevent complications associated with hypercalcemia. Treatment options may include:

• Calcium and vitamin D supplements: To help regulate calcium levels in the blood.
• PTH inhibitors: Such as calcilytics, which can help reduce PTH secretion and alleviate symptoms.

Specific Treatments

While there are no specific treatments mentioned for ADH2, some studies have explored the use of calcilytics, such as YM254890, to manage symptoms associated with this condition [14]. Additionally, a study on autosomal dominant hypocalcemia type 1 (ADH1) has investigated the use of calcilytic NPSP795 (SHP635), which may also be relevant for ADH2 treatment [13].

Other Considerations

It's essential to note that treatment decisions should be made in consultation with a healthcare professional, as each individual's condition and needs are unique. In asymptomatic patients, treatment should be avoided, and monitoring of calcium levels is crucial to prevent complications [14].

In conclusion, while there are no specific treatments mentioned for autosomal dominant hypocalcemia type 2, the management of symptoms associated with this condition may involve a combination of calcium and vitamin D supplements, PTH inhibitors, or other targeted therapies.

References:

[13] Brillante B, Guthrie LC, Streit J, Gash D, et al. Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635) J Bone Miner Res. 2019;34(9):1609–1618. doi: 10.1002/jbmr.3747.

[14] Autosomal dominant hypocalcemia (ADH) type 1 is caused by heterozygous activating mutations in the CASR gene, leading to excessive PTH secretion and hypercalcemia. Keywords: autosomal-dominant hypocalcemia, CASR, calcium metabolism, GNA11, calcilytics, YM254890, ... In asymptomatic patients, treatment should be avoided. When

Autosomal dominant hypocalcemia type 2 (ADH2) is a rare disorder characterized by low levels of calcium in the blood, often accompanied by abnormal regulation of parathyroid hormone (PTH). The differential diagnosis for ADH2 includes:

• Other forms of hypoparathyroidism: Conditions such as autoimmune hypoparathyroidism, and non-surgical hypoparathyroidism with hypocalcemia and low PTH levels [6].
• Familial hypocalciuric hypercalcemia (FHH): A disorder caused by inactivating mutations in the CASR gene, which can present with similar symptoms to ADH2 [4].
• Hyperphosphatemia: Elevated levels of phosphate in the blood, which can also lead to low calcium levels [12].
• Hypomagnesemia: Low levels of magnesium in the blood, which can affect calcium regulation and lead to hypocalcemia [12].

It's worth noting that ADH2 is caused by activating mutations in the GNA11 gene, which affects the regulation of PTH release. This distinguishes it from other forms of hypoparathyroidism or hypercalcemia.

References:

• [4] Mannstadt M, et al. (2015) - Cited by 3
• [6] Context result 6
• [12] Context result 12