Osteopetrosis by wanghonghx

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									Osteopetrosis



  By: Lyndsay Eden Joanna McCoy
Colette Webb        Stephen Sheets
                                www.dental.mu.edu
        What is Osteopetrosis?
Generalized hereditary condition (not a
  disease) consisting of excessive
  bone mineralization, resulting in
  altered stature, frequent fractures,
  lack of bone marrow hematopoietic
  function, and a tendency for severe
  osteomyelitis of the jaws.




                                          http://otic.hawkelibrary.com/Osteopetrosis/4_87_Alt
                                                      Symptoms
          Fractures
          Cranial nerve palsies
          Hepatosplenomegaly
          Anemia
          Frequent infections
          Blindness
          Deafness
          Strokes
          Enlarged spleen
          Bleeding
          Frontal bossing of the skull
          Headaches

http://otic.hawkelibrary.com/Osteopetrosis/4_87_Alt
                                                                 Types
        Malignant
      Infants are diagnosed with this form of osteopetrosis immediately or shortly
      after birth. Compression of the cranial nerves leads to blindness and
      deafness. Other symptoms include pathological fractures and infections.




http://www.nature.com/nature/journal/v409/n6822/full/409778a0.html
       Benign
        Generally dominant, as opposed to the recessive transmission of malignant
           osteopetrosis. Generally, patients with benign osteopetrosis are
           diagnosed as adults and suffer from frequent fractures, which tend to
           have difficulties with healing.




www.endotext.org/.../ figures15/figure4.jpg
       Intermediate
         Individuals with symptoms that do
            not fit clearly into the two more
            recognizable categories will
            present a third type of
            osteopetrosis known as
            intermediate osteopetrosis.
            These individuals will generally
            have a diagnosis in the first
            decade of life and symptoms
            more severe than those
            described as benign. There will
            be no family history of
            osteopetrosis.




http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?offset=15&cat3=22
1
                               Treatment
• Both the adult and childhood forms of
  osteopetrosis may benefit from Actimmune
  injections. Bone marrow transplant is the only
  complete cure available for malignant infantile
  osteopetrosis. This is a drastic treatment, and is
  used only in children severely affected by
  osteopetrosis, but if it is successful it saves the
  life of the child who would otherwise die from the
  disorder.
• Other treatments include nutrition, prednisone
  (helps improve the blood cell count), and physical
  and occupational therapy.




       http://www.osteo.org/newfile.asp?doc=p117i&doctitle=Osteopetrosis&doctype=HTML+Fact+Sheet
                  Prognosis
Patients with the adult form
of osteopetrosis have a
normal life span. Less than
30 percent of all children
with the severe malignant
infantile form of
osteopetrosis survive to
their tenth birthday, unless
they are treated with BMT
or a combination of
interferon gamma and
calcitriol. Only 10 percent
of infants who have
blindness and anemia
before six months old
survive more than one year
unless they are
successfully treated.
                 http://www.osteo.org/newfile.asp?doc=p117i&doctitle=Osteopetrosis&doctype=HTML+Fact+Sheet

								
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