What is hypophosphatemic rickets?

What is hypophosphatemic rickets?

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 is the treatment of hypophosphatemic rickets?

A combination of phosphate supplements and a special form of vitamin D is required for the treatment of hypophosphatemic rickets, where a genetic defect causes abnormalities in the way the kidneys and bones deal with phosphate.

What type of inheritance is hypophosphatemic rickets?

Inheritance. Hypophosphatemic rickets is most often inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome , and having only one mutated copy of the gene is enough to cause the condition.

Is hypophosphatemic rickets dominant?

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.

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 Calcipenic rickets?

Calcipenic rickets comprises a group of disorders in which supply of calcium or its intestinal absorption is too low to match the calcium demands imposed by bone growth.

What is the duration of rickets treatment?

Increasing vitamin D, calcium, and phosphate levels will help correct the disorder. Most children with rickets see improvements in about one week.

How is rickets diagnosed?

A blood test can usually confirm a diagnosis of rickets, although your child may also have some X-rays or possibly a bone density scan (DEXA scan). This is a type of X-ray that measures the calcium content in bones.

Is hypophosphatemic rickets autosomal dominant or recessive?

Which enzyme causes rickets and osteomalacia?

This disease, also called hereditary pseudo-vitamin D deficiency, was first described by Prader et al in 1961 as an autosomal recessive, persistent infantile rickets that responded to high dose vitamin D (16). Fraser et al (17) later reported that this condition was caused by lack of the 1-alpha hydroxylase enzyme.

Is hypophosphatemic rickets recessive?

Hypophosphatemic rickets is a disorder characterized by hypophosphatemia, defective intestinal absorption of calcium, and rickets or osteomalacia unresponsive to vitamin D. It is usually hereditary. Symptoms are bone pain, fractures, and growth abnormalities.

What is the Gard program for hypophosphatemic rickets?

Hypophosphatemic rickets | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Hypophosphatemic rickets Skip to main content U.S. Department of Health & Human Services

Where can I find support for hypophosphatemic patients?

X-Linked Hypophosphatemic Rickets International Registry Organizations Organizations Listen Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services.

What are the treatment options for hypophosphatemia syndromes?

Conventional treatment consists of PO4 supplements and calcitriol requiring monitoring for treatment-emergent adverse effects. FGF23 measurement, where available, has implications for the differential diagnosis of hypophosphatemia syndromes and, potentially, treatment monitoring.