What is the pathophysiology of rickets?

What is the pathophysiology of rickets?

Pathophysiology. Rickets arises due to decreased availability of phosphorus and calcium to mineralize the skeletal matrix, leading to growth plate disorganization and accumulation of undermineralized osteoid. This results in growth plate expansion, bone weakening, and skeletal deformities.

What causes hypophosphatemic rickets?

This disorder is caused by abnormal vitamin D metabolism and is inherited in an autosomal recessive pattern. This type of rickets may be evident at even earlier ages than occurs with familial hypophosphatemia.

Is Hypophosphatemic a 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.

How is hypophosphatemic rickets passed?

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.

What are the different types of rickets?

There are several subtypes of rickets, including hypophosphatemic rickets (vitamin-D-resistant rickets), renal or kidney rickets (renal osteodystrophy), and most commonly, nutritional rickets (caused by dietary deficiency of vitamin D, calcium, or phosphate).

What does the PHEX gene do?

The PHEX gene provides instructions for making an enzyme that is active primarily in bones and teeth. Studies suggest that it cuts (cleaves) other proteins into smaller pieces; however, the proteins cleaved by the PHEX enzyme have not been identified.

Who discovered rickets?

The first clear descriptions of rickets occurred in the seventeenth century, by the English physicians Daniel Whistler (1645), and Francis Glisson (1650) (8) (see Figure 1). However, early descriptions were recognized well before this time.

Who discovered hypophosphatemic rickets?

Abstract. In 1937, Fuller Albright first described two rare genetic disorders: Vitamin D resistant rickets and polyostotic fibrous dysplasia, now respectively known as X-linked hypophosphatemic rickets (XLH) and the McCune-Albright syndrome.

Who first discovered rickets?