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Malignant Osteopetrosis

What is Malignant Osteopetrosis?

In osteopetrosis, osteoclasts do not function normally. Bone is deposited by osteoblasts, but not remodeled by osteoclasts. The results are dense hard bones that are actually more brittle because they lack the osteoclast-designed lattice work. Fractures can occur because the bones are brittle, and healing may be delayed because of impaired bone remodeling. In its most severe form, abnormal bone growth may impair the function of cranial nerves and the normal flow of spinal fluid.

 

 

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Description
In osteopetrosis, osteoclasts do not function normally. Bone is deposited by osteoblasts, but not remodeled by osteoclasts. The results are dense hard bones that are actually more brittle because they lack the osteoclast-designed lattice work. Fractures can occur because the bones are brittle, and healing may be delayed because of impaired bone remodeling. In its most severe form, abnormal bone growth may impair the function of cranial nerves and the normal flow of spinal fluid.

 

Acknowledgement of Malignant Osteopetrosis has not been added yet.
0.75http://www.orpha.net
Synonyms for Malignant Osteopetrosis has not been added yet.
While Osteopetrosis can be inherited as either a dominant or recessive trait, the infantile malignant form of the disease is inherited as an autosomal recessive genetic trait (http://rarediseases.org/rare-diseases/osteopetrosis/). This means that symptoms only arise when a person inherits the same defective gene from each parent. The mutated gene that causes this disorder is the TCIRG1 gene in over 50% of recorded cases. Another 10% of affected patients have mutations in the CLCN7 gene (http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=667). The primary cause of the disease is an insufficient production of intercellular bone tissue by cells called osteoblasts. They play an important role in bone health by striking a balance between formation and loss of calcium (resorption) in the skeleton.
In general, Osteopetrosis is characterized by overly dense bones throughout the skeleton. The most serious form of the disease, the malignant infantile type, is apparent from birth. For example, certain patients may be born with an abnormally large head (macrocephaly), while some affected individuals may have a condition called hydrocephalus. This refers to the inhibition of the normal flow of cerebrospinal fluid (CSF), and the abnormal widening (dilatation) of the cerebral spaces of the brain (ventricles), leading to accumulation of CSF in the skull and potentially increased pressure on brain tissue. Some other symptoms of osteopetrosis include hearing loss, chronic inflammation of the mucous membranes in the nose (rhinitis), and frequent infections (such as pneumonia, sepsis, and urinary tract infections). Due to the bone complications, some affected children will experience delays in acquiring skills that require the coordination of muscles and voluntary movements. Finally, some patients may have low levels of iron in the red blood cells.
Name Description
Deafness Deafness
Facial paralysis Facial paralysis
Blindness Blindness
Increased likelihood of fractures Increased likelihood of fractures
Stunted growth Stunted growth
For Infantile malignant osteopetrosis, diagnosis can be performed prior to birth through an ultrasound late in the second trimester. However, a molecular diagnosis is recommended because it can be performed earlier, through chorionic villus sampling at around 11-13 weeks of gestation. For diagnosis in children and adults, a process based upon thorough clinical evaluation, detailed patient history, and a variety of specialized tests such as x-ray tests will be used. Finally, the diagnosis can be verified by testing the bone for the presence of other distinct symptoms such as vision impairment.
Diagnostic tests of Malignant Osteopetrosis has not been added yet
In order to manage the symptoms of Infantile malignant osteopetrosis, the drug Interferon Gamma-1b (Actimmune) was approved by the U.S. Food and Drug Administration in the year 2000. This drug is not a cure, but works by delaying the progression of symptoms. A bone marrow transplant may be required for many patients suffering from infantile malignant osteopetrosis. This procedure can alleviate many features of the disease, but needs to be performed early enough to minimise optic nerve encroachment. In addition, some other treatment methods include blood transfusions, treatment for infections, and management of visual and developmental problems.
Prognosis of Malignant Osteopetrosis has not been added yet.
Tips or Suggestions of Malignant Osteopetrosis has not been added yet.
References of Malignant Osteopetrosis has not been added yet.
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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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sashaffer01
The Mason Shaffer Foundation is a grass-roots effort to increase cord blood banking and awareness. At 5 months old, our son Mason was diagnosed with an extremely rare genetic bone marrow disorder...
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