About Autosomal Recessive Hypophosphatemic Rickets Type 2

What is Autosomal Recessive Hypophosphatemic Rickets Type 2?

Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) is a rare genetic disorder that affects the body's ability to absorb and use phosphorus. It is caused by mutations in the SLC34A3 gene, which is responsible for the production of a protein that helps regulate the absorption of phosphorus in the intestines. People with ARHR2 have low levels of phosphorus in their blood, which can lead to weakened bones, stunted growth, and other health problems. Treatment typically involves taking phosphorus supplements and vitamin D to help the body absorb and use phosphorus more effectively.

What are the symptoms of Autosomal Recessive Hypophosphatemic Rickets Type 2?

Symptoms of Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) can vary from person to person, but may include:

-Short stature
-Bone pain
-Delayed bone age
-Delayed tooth eruption
-Soft bones
-Bone deformities
-Muscle weakness
-Impaired growth
-Impaired development
-Impaired hearing
-Impaired vision
-Impaired speech
-Impaired balance
-Impaired coordination
-Impaired motor skills
-Impaired intellectual development
-Impaired learning
-Impaired memory
-Impaired concentration
-Impaired judgment
-Impaired social skills
-Impaired behavior
-Impaired impulse control
-Impaired self-care skills
-Impaired ability to perform daily activities
-Impaired

What are the causes of Autosomal Recessive Hypophosphatemic Rickets Type 2?

Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) is caused by mutations in the SLC34A3 gene. This gene provides instructions for making a protein that helps regulate the movement of phosphate into cells. Mutations in this gene reduce the amount of phosphate that can enter cells, leading to a decrease in phosphate levels in the blood (hypophosphatemia). Low levels of phosphate in the blood can cause the bones to become weak and misshapen (rickets).

What are the risk factors for Autosomal Recessive Hypophosphatemic Rickets Type 2?

1. Family history of Autosomal Recessive Hypophosphatemic Rickets Type 2
2. Genetic mutations in the SLC34A3 gene
3. Low levels of phosphate in the blood
4. Low levels of vitamin D in the blood
5. Low levels of calcium in the blood
6. Poor nutrition
7. Lack of exposure to sunlight
8. Certain medications, such as anticonvulsants, corticosteroids, and diuretics
9. Chronic kidney disease
10. Liver disease

Is there a cure/medications for Autosomal Recessive Hypophosphatemic Rickets Type 2?

Yes, there are medications available to treat Autosomal Recessive Hypophosphatemic Rickets Type 2. These medications include phosphate supplements, calcitriol, and bisphosphonates. Additionally, dietary changes such as increasing calcium and vitamin D intake may be recommended.