Osteopetrosis
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| Osteopetrosis (Malignant) Classification and external resources | |
| ICD-10 | Q78.2 |
|---|---|
| ICD-9 | 756.52 |
| OMIM | 166600 259700 |
| DiseasesDB | 9377 |
| eMedicine | med/1692 |
| MeSH | D010022 |
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Osteopetrosis also known as marble bone disease and Albers-Schonberg disease is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to the more prevalent osteomalacia, in which the bones soften.
It can cause osteosclerosis.[1]
Cause
Normally, bone growth is a balance between osteoblasts (cells that create bone tissue) and osteoclasts (cells that destroy bone tissue). Sufferers of osteopetrosis have a deficiency of osteoclasts, meaning too little bone is being resorbed, resulting in too much bone being created.
Symptoms
Despite this excess bone formation, people with osteopetrosis tend to have bones that are more brittle than normal. Mild osteopetrosis may cause no symptoms, and present no problems. However, serious forms can result in stunted growth, deformity, increased likelihood of fractures, and anaemia. It can also result in blindness, facial paralysis, and deafness, due to the increased pressure put on the nerves by the extra bone.
Variations
There are three major clinical forms:
- 1. Autosomal recessive (malignant type)
- 2. Autosomal dominant (benign type)
- 3. Carbonic anhydrase II deficiency (Type 3 Renal tubular acidosis)
Treatment
There is no cure, although curative therapy with bone marrow transplantion is being investigated in clinical trials [citation needed]. It is believed the healthy marrow will provide the sufferer with cells from which osteoclasts will develop.
See also
References
External links
- International Osteopetrosis Association
- http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Osteopetrosis
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
