Hereditary hypophosphatemic rickets with hypercalciuria is a rare inherited disorder that affects the body's ability to absorb and use phosphorus and calcium. It is characterized by low levels of phosphorus in the blood (hypophosphatemia), softening of the bones (rickets), and high levels of calcium in the urine (hypercalciuria). Symptoms of the disorder can include bone pain, muscle weakness, and skeletal deformities. Treatment typically involves dietary changes, vitamin D supplementation, and medications to reduce calcium excretion.

The symptoms of Hereditary hypophosphatemic rickets with hypercalciuria include:

-Delayed growth and development
-Bone Pain and deformities
-Muscle weakness
-Frequent fractures
-Dental problems
-Impaired vision
-Fatigue
-Excessive thirst and urination
-Abnormal blood calcium levels
-Abnormal blood phosphorus levels
-Abnormal urine calcium levels

The causes of Hereditary hypophosphatemic rickets with hypercalciuria are not fully understood. However, it is believed to be caused by a mutation in the gene that codes for the enzyme FGF23, which is responsible for regulating phosphate and calcium levels in the body. This mutation leads to an increase in FGF23 activity, resulting in increased phosphate excretion and decreased calcium absorption. This leads to a decrease in phosphate levels in the body, resulting in the development of rickets and hypercalciuria.

1. Dietary phosphate restriction: This involves reducing the amount of phosphate in the diet, which can help reduce the amount of phosphate in the body and reduce the symptoms of the condition.

2. Vitamin D supplementation: Vitamin D helps the body absorb calcium and can help reduce the symptoms of the condition.

3. Phosphate binders: These medications bind to phosphate in the gut and help reduce the amount of phosphate absorbed into the body.

4. Calcium supplementation: Calcium supplementation can help reduce the symptoms of the condition.

5. Bisphosphonates: These medications help reduce the amount of calcium in the body and can help reduce the symptoms of the condition.

6. Surgery: In some cases, surgery may be necessary to correct the underlying cause of the condition.

1. Family history of Hereditary hypophosphatemic rickets with hypercalciuria
2. Genetic mutations in the PHEX, FGF23, or DMP1 genes
3. Low levels of phosphorus in the blood
4. High levels of calcium in the urine
5. Vitamin D deficiency
6. Low dietary intake of phosphorus
7. Low dietary intake of calcium
8. Low dietary intake of vitamin D
9. Low levels of physical activity
10. Chronic kidney disease

Yes, there are medications available to treat Hereditary hypophosphatemic rickets with hypercalciuria. These medications include phosphate supplements, calcitriol (vitamin D3), and bisphosphonates. Additionally, dietary changes such as reducing dietary calcium and increasing dietary phosphorus may be recommended.