Hypophosphatemic rickets
Hypophosphatemic rickets (pronounced: hi-po-fos-fa-te-mic rick-ets) is a rare, chronic metabolic disorder that affects the bones, causing them to become soft and weak. It is also known as Vitamin D-resistant rickets or X-linked hypophosphatemia.
Etymology
The term "Hypophosphatemic rickets" is derived from the Greek words "hypo" (meaning "under"), "phosphatemia" (referring to the concentration of phosphate in the blood), and "rickets" (a disease characterized by the softening and distortion of the bones).
Symptoms
The symptoms of Hypophosphatemic rickets include bone pain, bone deformity, dental problems, and short stature. These symptoms are caused by low levels of phosphate in the blood, which leads to the softening of the bones.
Causes
Hypophosphatemic rickets is usually caused by a mutation in the PHEX gene. This gene is involved in the regulation of phosphate levels in the body. When this gene is mutated, it leads to low levels of phosphate in the blood, which in turn leads to the symptoms of Hypophosphatemic rickets.
Treatment
Treatment for Hypophosphatemic rickets typically involves taking supplements of phosphate and calcitriol, a form of vitamin D. This helps to increase the levels of phosphate in the blood and promote the proper formation of bones.
See also
External links
- Medical encyclopedia article on Hypophosphatemic rickets
- Wikipedia's article - Hypophosphatemic rickets
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski