About Autosomal dominant hypophosphatemic rickets
What is Autosomal dominant hypophosphatemic rickets?
Autosomal dominant hypophosphatemic rickets is a rare genetic disorder that affects the body's ability to absorb and use phosphorus. It is caused by mutations in the PHEX gene, which is responsible for regulating the amount of phosphate in the body. Symptoms of this disorder include bone deformities, short stature, and muscle weakness. Treatment typically involves taking phosphate supplements and vitamin D to help the body absorb and use phosphorus.
What are the symptoms of Autosomal dominant hypophosphatemic rickets?
The symptoms of Autosomal dominant hypophosphatemic rickets include:
-Short stature
-Bone pain
-Bone deformities
-Delayed motor development
-Muscle weakness
-Dental abnormalities
-Impaired growth
-Soft bones
-Frequent fractures
-Low levels of phosphate in the blood
-High levels of alkaline phosphatase in the blood
-High levels of parathyroid hormone in the blood
-Excessive urinary excretion of phosphate
What are the causes of Autosomal dominant hypophosphatemic rickets?
Autosomal dominant hypophosphatemic rickets is caused by mutations in the PHEX gene, which is responsible for controlling the amount of phosphate in the body. Mutations in this gene can lead to an inability to absorb phosphate from the diet, resulting in low levels of phosphate in the body and the development of rickets. Other causes of autosomal dominant hypophosphatemic rickets include mutations in the FGF23 gene, which is responsible for regulating phosphate levels in the body, and mutations in the DMP1 gene, which is responsible for regulating the production of a protein that helps to regulate phosphate levels.
What are the treatments for Autosomal dominant hypophosphatemic rickets?
1. Dietary phosphate supplementation: This involves increasing the amount of phosphate in the diet to help the body absorb and use it more efficiently.
2. Vitamin D supplementation: Vitamin D helps the body absorb and use phosphate more efficiently.
3. Phosphate binders: These medications help the body absorb and use phosphate more efficiently.
4. Bisphosphonates: These medications help reduce the amount of phosphate that is lost in the urine.
5. Calcitriol: This is a form of vitamin D that helps the body absorb and use phosphate more efficiently.
6. Growth hormone therapy: This helps to increase the amount of phosphate that is absorbed and used by the body.
7. Surgery: In some cases, surgery may be necessary to correct the underlying cause of the condition.
What are the risk factors for Autosomal dominant hypophosphatemic rickets?
1. Family history of Autosomal dominant hypophosphatemic rickets
2. Genetic mutations in the PHEX 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 physical activity
8. Certain medications, such as anticonvulsants and corticosteroids
Is there a cure/medications for Autosomal dominant hypophosphatemic rickets?
Yes, there are medications available to treat Autosomal dominant hypophosphatemic rickets. These medications include phosphate supplements, calcitriol (vitamin D3), and bisphosphonates. Additionally, dietary changes such as increasing calcium and phosphorus intake may be recommended.