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    Paget's Disease & Osteopetrosis Assignment

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    Mustafa Khandgawi
    Paget's disease causes enlarged and misshapen bones due to disturbed bone remodeling that makes bones enlarged, less dense and brittle. While the exact cause is unknown, certain genes may play a role. Symptoms vary depending on affected bones but can include bone pain, deformity, fractures and arthritis. Diagnosis involves x-rays and blood tests. Treatment focuses on controlling symptoms and complications through medications or surgery. Osteopetrosis makes bones denser due to a failure of bone resorption despite continued bone formation, causing brittle bones and potentially fractures, infections and nerve complications. The only cure is bone marrow transplant while other treatments address complications.

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    Paget's Disease & Osteopetrosis Assignment

    Uploaded by

    Mustafa Khandgawi
    614 views14 pages
    Paget's disease causes enlarged and misshapen bones due to disturbed bone remodeling that makes bones enlarged, less dense and brittle. While the exact cause is unknown, certain genes may play a role. Symptoms vary depending on affected bones but can include bone pain, deformity, fractures and arthritis. Diagnosis involves x-rays and blood tests. Treatment focuses on controlling symptoms and complications through medications or surgery. Osteopetrosis makes bones denser due to a failure of bone resorption despite continued bone formation, causing brittle bones and potentially fractures, infections and nerve complications. The only cure is bone marrow transplant while other treatments address complications.

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    Paget's Disease & Osteopetrosis Assignment

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    Paget's disease causes enlarged and misshapen bones due to disturbed bone remodeling that makes bones enlarged, less dense and brittle. While the exact cause is unknown, certain genes may play a role. Symptoms vary depending on affected bones but can include bone pain, deformity, fractures and arthritis. Diagnosis involves x-rays and blood tests. Treatment focuses on controlling symptoms and complications through medications or surgery. Osteopetrosis makes bones denser due to a failure of bone resorption despite continued bone formation, causing brittle bones and potentially fractures, infections and nerve complications. The only cure is bone marrow transplant while other treatments address complications.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    614 views14 pages

    Paget's Disease & Osteopetrosis Assignment

    Uploaded by

    Mustafa Khandgawi
    Paget's disease causes enlarged and misshapen bones due to disturbed bone remodeling that makes bones enlarged, less dense and brittle. While the exact cause is unknown, certain genes may play a role. Symptoms vary depending on affected bones but can include bone pain, deformity, fractures and arthritis. Diagnosis involves x-rays and blood tests. Treatment focuses on controlling symptoms and complications through medications or surgery. Osteopetrosis makes bones denser due to a failure of bone resorption despite continued bone formation, causing brittle bones and potentially fractures, infections and nerve complications. The only cure is bone marrow transplant while other treatments address complications.

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    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
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    The passage discusses Paget's disease and osteopetrosis, two conditions affecting bone density and structure.

    Paget's disease is a chronic condition that causes enlarged and misshapen bones due to disturbed bone remodeling.

    While the exact cause is unknown, certain genes and viral infections may play a role in triggering Paget's disease in genetically predisposed individuals.

    Paget's

    Disease &
    Osteopetrosis
    :By
    Mohammed Badr Alddin Mohammed
    Master Degree by Courses
    Program
    University of Khartoum
    Batch (1)

    What is Paget's Disease

    Paget's disease is a chronic disease that leads


    to enlarged and misshapen bones. The bone's
    remodeling is disturbed and not synchronized.
    This causes the bone to be enlarged, not as
    dense, and brittle. The disease becomes more
    .common with age

    What Causes Paget's

    It is not entirely known what causes Paget's


    disease. However, certain genes have been
    associated with it such as the
    Sequestrosome 1 gene on chromosome 5. Also,
    viral infection may be necessary to trigger the
    .disease in people who have inherited the gene

    Symptoms

    Most of the time there are no symptoms and it is


    often found on x rays taken for another reason.
    Paget's disease can cause bone-pain, deformity,
    fractures and arthritis. The pain is located in the
    affected bone.The most common bones affected
    are the spine, femur, pelvis, skull, clavicle, and
    .humerus

    Symptoms Continued

    Other symptoms depend on which bones are


    affected. Enlarged bones can pinch nerves and
    cause tingling and numbness. If the disease
    affects the hips or knees it can cause arthritis,
    limping, and pain or stiffness of the knee or hip. If
    it affects the legs, they can become bowed. If the
    skull is affected it can cause headaches, and loss
    of hearing and vision. If the disease is wide
    spread, congestive heart failure can occur
    .because of the high workload for the heart

    Diagnosis and Prognosis


    Paget's disease is diagnosed based on x ray appearance
    as well as possible bone scans, MRI scans, or CT scans.
    Also blood tests are used because an enzyme that comes
    from bone, alkaline phosphatase, is usually elevated in
    people who have Paget's disease because of the abnormal
    .remodeling

    The prognosis is generally good. The symptoms progress


    slowly and the disease doesn't spread to healthy bones like
    .cancer. However, there is no cure

    Treatment
    Since there is no cure, the goal of the treatment
    is to control the disease's activity and the
    complications. When there are no symptoms or
    elevated levels of alkaline phosphatase, then
    treatment isn't necessary. Bone pain can require
    NSAIDs. Deformity can require supports.
    Surgery may be necessary for damaged joints,
    fractures, severely deformed bones, or when
    nerves are being pinched by enlarged bone.
    Medications such as bisphosphonates or
    .injectable calcitonin may be used

    Osteopetro
    sis

    Osteopetrosis, literally "stone bone", 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 more prevalent conditions like
    osteoporosis, in which the bones become
    less dense and more brittle, or
    osteomalacia, in which the bones soften.
    Osteopetrosis can cause bones to dissolve
    and break

    Pathogenesis
    Normal bone growth is achieved by a balance between bone
    formation by osteoblasts and bone resorption (breakdown of
    bone matrix) by osteoclasts. In osteopetrosis, the number of
    osteoclasts may be reduced, normal, or increased. Most
    importantly, osteoclast dysfunction mediates the
    .pathogenesis of this disease
    The exact mechanism is unknown. However, deficiency of
    carbonic anhydrase in osteoclasts is noted. The absence of
    this enzyme causes defective hydrogen ion pumping by
    osteoclasts and this in turn causes defective bone resorption
    by osteoclasts, as an acidic environment is needed for
    dissociation of calcium hydroxyapatite from bone matrix.
    Hence, bone resorption fails while its formation persists.
    .Excessive bone is formed

    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, also patients suffer anemia,
    recurrent infections and hepatosplenomegaly
    due to bone expansion leading to bone marrow
    narrowing and extramedullary hematopoiesis.
    It can also result in blindness, facial paralysis,
    and deafness, due to the increased pressure
    put on the nerves by the extra bone.

    Differential diagnosis
    The differential diagnoses include other

    disorders which can cause diffuse


    osteosclerosis, such as hypervitaminosis D, and
    hypoparathyroidism, Paget's disease, diffuse
    bone metastasis of breast or prostate cancer
    (which tend to be osteoblastic while most
    metastases are osteolytic), intoxication with
    fluoride, lead or beryllium, and hematological
    disorders such as myelofibrosis,
    sickle cell disease and leukemia.

    Treatment
    The only durable cure for osteopetrosis types

    affecting the osteoclasts (most types) is bone


    marrow transplant.[5]
    If complications occur 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.

    than

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