What is hereditary hypophosphatemia?
What is hereditary hypophosphatemia?
Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth. In most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood.
What causes phosphate wasting?
Renal phosphate wasting can result from genetic or acquired renal disorders. Acquired renal phosphate wasting syndromes can result from vitamin D deficiency hyperparathyroidism, oncogenic osteomalecia, and Fanconi syndrome.
Is hereditary hypophosphatemic rickets autosomal?
Autosomal dominant hypophosphatemic rickets (ADHR) is a rare hereditary disease in which excessive loss of phosphate in the urine leads to poorly formed bones (rickets), bone pain, and tooth abscesses….Autosomal dominant hypophosphatemic rickets.
| X-linked dominant hypophosphatemic rickets | |
|---|---|
| Specialty | Endocrinology |
What is XLH disease?
X-linked hypophosphatemia or XLH (also known as familial hypophosphatemia, or, incorrectly, as Vitamin D-resistant rickets) is an extremely rare genetic disorder that causes the wasting of phosphorus, leading to problems with bone, tooth and muscle growth, development and function.
Is ricket hereditary?
Hypophosphatemic rickets is almost always hereditary and may be caused by mutations in any of several genes . The specific gene involved determines the way it is inherited . Most commonly, it is caused by a mutation in the PHEX gene.
Is osteomalacia inherited?
This disorder may be acquired or genetic and follow autosomal recessive inheritance. Bone symptoms include rickets in children and softening of bones (osteomalacia) in adults.
What is osteomalacia and rickets?
Osteomalacia is softening of the bones. It most often occurs because of a problem with vitamin D, which helps your body absorb calcium. Your body needs calcium to maintain the strength and hardness of your bones. In children, the condition is called rickets.
How does phosphate deficiency cause rickets?
In phosphopenic rickets (hypophosphatemic rickets), phosphate deficiency is the primary defect that results most commonly from increased renal excretion of phosphate. It is associated with normal or slightly elevated serum parathyroid hormone (PTH).
What are the symptoms of 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 is Crysvita?
CRYSVITA is a drug for the treatment of a genetic form of rickets called X-linked hypophosphatemia, in patients 1 year of age and older. X-linked hypophosphatemia (XLH) is a rare inherited disorder characterized by low levels of phosphate in the blood which causes soft, weak bones (rickets).
How is genetic rickets treated?
As most cases of rickets are caused by a vitamin D and calcium deficiency, it’s usually treated by increasing a child’s intake of vitamin D and calcium.
- eating more foods that are rich in calcium and vitamin D.
- taking daily calcium and vitamin D supplements.
What causes autosomal dominant hypophosphatemic rickets?
Autosomal dominant hypophosphatemic rickets is due to FGF23 mutations leading to resistance against its own degradation. Similarly, inactivating mutations in the PHEX gene, which causes FGF23 inactivation, cause X-linked hypophosphatemia due to renal phosphate losses.
What is phosphate homeostasis and how does it work?
Phosphate homeostasis is the product of intestinal uptake of phosphate (in the range of 0.9–1 g/day) and reabsorption of phosphate from urine (in the range of 60–80%).
What are the possible complications of hypophosphatemia?
Deviations as found in patients with hypophosphatemia or hyperphosphatemia can cause severe disturbances of cellular and organ function such as ATP depletion, rickets, osteomalacia, anaemia or excessive tissue calcifications, nephrolithiasis, arteriosclerosis and increased risk of cardiovascular morbidity and mortality [ 1–3 ].
Which transport proteins are involved in renal phosphate reabsorption?
At least three transport proteins are responsible for renal phosphate reabsorption: NAPI-IIa (SLC34A1), NAPI-IIc (SLC34A3) and PIT-2 (SLC20A2).
