What causes hypophosphatemic rickets?

What causes hypophosphatemic rickets?

Causes. Hereditary hypophosphatemic rickets can result from mutations in several genes. Mutations in the PHEX gene, which are responsible for X-linked hypophosphatemic rickets, occur most frequently. Mutations in other genes cause the less common forms of the condition.

What happens when you have hypophosphatemic rickets?

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare bone disorder characterized by symptoms associated with hypophosphatemic rickets, including muscle weakness, short stature, skeletal deformities, and bone pain. The disorder is inherited in an autosomal recessive pattern.

What kind of disease is hypophosphatemic rickets?

Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood. Symptoms usually begin in early childhood and can range in severity.

Which condition can cause hypophosphatemia?

Causes of hypophosphatemia include:

• severe malnutrition, such as from anorexia or starvation.
• alcoholism.
• severe burns.
• a diabetes complication called diabetic ketoacidosis.
• the kidney disorder, Fanconi syndrome.
• an excess of parathyroid hormone (hyperparathyroidism)
• chronic diarrhea.
• vitamin D deficiency (in children)

What is Hypophosphatemic?

Hypophosphatemia is defined as a serum phosphate level of less than 2.5 mg/dL (0.8 mmol/L) in adults. The normal level for serum phosphate in neonates and children is considerably higher, up to 7 mg/dL for infants.

What is renal rickets?

It is an X-linked recessive syndrome in which a primary defect in the cells of the proximal renal tubule results in a phenotype of proximal tubular solute-wasting, hypercalciuria, nephrocalcinosis, kidney stones, renal failure, and in some cases rickets.

What is the difference between hypophosphatasia and hypophosphatemia?

In hypophosphatasia, mineralization is disrupted affecting a number of tissues, including bone and teeth. With X-linked hypophosphatemia, an inability of the cells in the body to properly process phosphate causes circulating levels of phosphate to be low, resulting in problems with bone and tooth development.

Can renal failure cause hypophosphatemia?

Chronic hypophosphatemia usually results from gastrointestinal and/or renal losses of phosphate. Renal losses can be caused by either gain-of-function mutations or acquired defects in the fibroblast growth factor 23 (FGF-23)–Klotho axis.

What is congenital rickets?

Congenital rickets is the term given to fetus born with clinical features of rickets, but those born with biochemical evidence of rickets without obvious clinical features still can be considered occult congenital rickets.

How does renal tubular acidosis cause rickets?

Rickets in RTA. Rickets in RTA is multifactorial. Systemic acidosis is associated with defective mineralization of the cartilages and bones due to increased solubility of the mineral phase. During acidosis, calcium and phosphate are mobilized from bones for the purpose of buffering by enhanced osteoclastic resorption.

What is the main cause of rickets?

A lack of vitamin D or calcium is the most common cause of rickets. Vitamin D largely comes from exposing the skin to sunlight, but it’s also found in some foods, such as oily fish and eggs. Vitamin D is essential for the formation of strong and healthy bones in children.

Why hyperphosphatemia occur in acute renal failure?

Renal failure is the most common cause of hyperphosphatemia. A glomerular filtration rate of less than 30 mL/min significantly reduces the filtration of inorganic phosphate, increasing its serum level. Other less common causes include a high intake of phosphorus or increased renal reabsorption.

Why does CKD cause hyperphosphatemia?

Loss of phosphorus homeostasis due to excretion failure in chronic kidney disease results in hyperphosphatemia (14) due to positive balance increasing the concentration in the exchangeable phosphorus pool, often when the pool size is reduced as in the adynamic bone disorder (Figure 2).

How is hypophosphatemic rickets diagnosed?

Diagnosis is by serum phosphate, alkaline phosphatase, and 1,25-dihydroxyvitamin D3 levels. Treatment is oral phosphate plus calcitriol; burosumab is given for X-linked hypophosphatemia. Familial hypophosphatemic rickets is usually inherited as an X-linked dominant trait.

What causes rickets disease?

What causes rickets? A lack of vitamin D or calcium is the most common cause of rickets. Vitamin D largely comes from exposing the skin to sunlight, but it’s also found in some foods, such as oily fish and eggs. Vitamin D is essential for the formation of strong and healthy bones in children.

What is the most common cause of hyperphosphatemia?

Why does hypocalcemia cause hyperphosphatemia?

Phosphate binds calcium avidly, causing acute hypocalcemia. Acute hypocalcemia secondary to hyperphosphatemia may also result from renal failure or excess tissue breakdown because of rhabdomyolysis or tumor lysis. In acute hyperphosphatemia, calcium is deposited mostly in the bone but also in the extraskeletal tissue.