Is hypophosphatemic rickets X-linked dominant?

Is hypophosphatemic rickets X-linked dominant?

Researchers have described several forms of hereditary hypophosphatemic rickets, which are distinguished by their pattern of inheritance and genetic cause. The most common form of the disorder is known as X-linked hypophosphatemic rickets (XLH). It has an X-linked dominant pattern of inheritance.

What is Xlink hypophosphatemic rickets?

X-linked hypophosphatemia (XLH) is an inherited disorder characterized by low levels of phosphate in the blood. Phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets).

Is hypophosphatemic rickets autosomal dominant or recessive?

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.

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.

How rare is XLH?

X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activity; XLH has an incidence of approximately 1 in 20–25,000 individuals.

What kind of doctor treats Hypophosphatemic rickets?

A nephrologist can help confirm the likelihood of phosphate wasting and can help assess the patient for causes of renal phosphate wasting.

How does Hypophosphatemic rickets affect the body?

For example, hypophosphatemic rickets is a genetic disorder where the kidneys and bones deal abnormally with phosphate. Phosphate binds to calcium and is what makes bones and teeth hard. This leaves too little phosphate in the blood and bones, leading to weak and soft bones.

What is autosomal dominant hypophosphatemic rickets?

Autosomal dominant hypophosphatemic rickets (ADHR) is a disorder that is characterized by rickets, osteomalacia, a short stature, bone pain, and dental abscesses due to the excessive excretion of Pi in the urine, and a gain-of-function mutation in the FGF23 gene has been identified as the mutation responsible for this …

How is hypophosphatemic rickets treated?

Standard protocol for treatment of familial hypophosphatemic rickets includes the use of 1,25-dihydroxy-vitamin D (calcitriol). The use of calcitriol in place of standard vitamin D obviates near-toxic dosage of the latter, avoids fat storage of parent vitamin D, and diminishes the danger of hypercalcemia.

How does hypophosphatemic rickets affect the body?

How common is Xlink hypophosphatemia?

X-linked hypophosphatemia (XLH) is a rare, lifelong, often debilitating genetic disorder caused by loss-of-function mutations in the phosphate-regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) [1]. XLH is estimated to occur in 1 in 20,000 live births [2–4].

Can Hypophosphatemic rickets be cured?

The long-term outlook ( prognosis ) for people with hypophosphatemic rickets is good. With appropriate management, normal health and normal lifespan are expected. If the condition is not treated (especially while children are growing), skeletal deformities may be permanent.

What are the long term effects of rickets?

If left untreated, a child with rickets is more prone to fractures of the bone. People with more severe and prolonged rickets may experience permanent bone deformities. Severely low calcium levels in the blood can lead to cramps, seizures, and breathing problems. In rare cases, rickets can weaken the heart muscles.

What is the prevalence of X-linked hypophosphatemia (XLH)?

The prevalence of the disease is 1 in 20,000. The most common symptoms of XLH affect the bones and teeth, causing pain, abnormalities, and osteoarthritis. Symptoms and signs can vary between children and adults and can include: XLH is associated with a mutation in the PHEX gene sequence, located on the human X chromosome at location Xp22.2-p22.1.

Is X-linked hypophosphatemia (XLH) hereditary?

Reviewed by Gaea Marelle Miranda, M.Sc. X-linked hypophosphatemia (XLH) is the most common cause of hereditary rickets in children. Its early recognition is crucial to appropriate pediatric management and surveillance for complications related to the disease as well as to its treatment.

What is X-linked hypophosphatemia (XLH)?

Summary Summary. X-linked hypophosphatemia (XLH) is an inherited disorder characterized by low levels of phosphate in the blood . Phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets).