Osteopetrosis 526100 226087443 2008-07-16T19:42:32Z Stevenfruitsmaak 247845 +diff diagnosis, treatment {{Infobox_Disease | Name = Osteopetrosis (Malignant) | Image = Osteopetrosis pelvis X-ray.png | Caption = [[X-ray]] of the [[pelvis]] of a patient with osteopetrosis, adult onset form (Albers-Schonberg disease). Note the dense bones. | DiseasesDB = 9377 | ICD10 = {{ICD10|Q|78|2|q|65}} | ICD9 = {{ICD9|756.52}} | ICDO = | OMIM = 166600 | OMIM_mult = {{OMIM2|259700}} | MedlinePlus = | eMedicineSubj = med | eMedicineTopic = 1692 | MeshID = D010022 }} '''Osteopetrosis''' also known as '''marble bone disease''' and '''Albers-Schonberg disease''' is an extremely [[rare]] [[Biological inheritance|inherited]] [[disease|disorder]] whereby the [[bone]]s harden, becoming [[dense]]r, in contrast to the more prevalent [[osteomalacia]], in which the bones soften. It can cause [[osteosclerosis]].<ref name="pmid18028760">{{cite journal |author=Lam DK, Sándor GK, Holmes HI, Carmichael RP, Clokie CM |title=Marble bone disease: a review of osteopetrosis and its oral health implications for dentists |journal=J Can Dent Assoc |volume=73 |issue=9 |pages=839–43 |year=2007 |pmid=18028760 |doi= |url=http://www.cda-adc.ca/jcda/vol-73/issue-9/839.html}}</ref> ==Cause== Normally, bone [[growth]] is a balance between [[osteoblast]]s (cells that create bone tissue) and [[osteoclast]]s (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 [[fracture (bone)|fracture]]s, and [[anemia]]. It can also result in [[blindness]], facial [[paralysis]], and [[deafness]], due to the increased pressure put on the [[nerve]]s 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]]) ==Differential diagnosis== The [[differential diagnosis]] includes other disorder which can cause diffuse osteosclerosis, such as [[hypervitaminosis D]], and [[hypoparathyroidism]], [[Paget's disease]], diffuse bone [[metastasis]] of [[breast cancer|breast]] or [[prostate cancer]] (which tend to be osteoblastic while most metastases are [[osteolysis|osteolytic]]), intoxication with [[fluoride]], [[lead poisoning|lead]] or [[beryllium]], and hematological disorders such as [[myelofibrosis]], [[sickle cell disease]] and [[leukemia]]. ==Treatment== There is no cure, although curative therapy with [[bone marrow transplantion]] is being investigated in clinical trials {{Fact|date=June 2007}}. It is believed the healthy marrow will provide the sufferer with cells from which osteoclasts will develop. If complications occur or in children, patients can be treated with [[vitamin D]]. [[Gamma interferon]] has also been shown to be effective, and it can be associated to vitamin D. [[Erythropoetin]] has been used to treat any associated [[anemia]]. [[Corticosteroids]] may alleviate both the anemia and stimulate bone resorption. [[Fractures]] and [[osteomyelitis]] can be treated as usual. ==Notable cases== * [[Laurel Burch]]<ref name="titleMarin County artist Laurel Burch dead at 61 of rare bone disease">{{cite web |url=http://www.sfgate.com/cgi-bin/article.cgi?f=/c/a/2007/09/23/BAH2S9B1N.DTL |title=Marin County artist Laurel Burch dead at 61 of rare bone disease |accessdate=2007-12-23 |format= |work=}}</ref> ==See also== *[[V-ATPase]] ==References== {{reflist}} ==External links== *[http://www.InternationalOsteopetrosisAssociation.org International Osteopetrosis Association] *http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Osteopetrosis {{Congenital malformations and deformations of musculoskeletal system}} [[Category:Skeletal system]] [[es:Osteopetrosis]] [[it:Osteopetrosi]] [[pl:Choroba Albersa-Schönberga]]