Pycnodysostosis (cont.)

Medical Reviewer:

What is the treatment for pycnodysostosis?

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Bone fractures are a big problem for patients with pycnodysostosis. They can occur with minimal stress. It is important that the disease be diagnosed and the tendency to fractures be recognized so that (1) fractures can be minimized, if not entirely prevented; and (2) the parents and other caregivers are not falsely accused of child abuse! As with any condition causing brittle bones, the infant should be handled with a reasonable degree of care. The older child should be encouraged to engage in safer forms of exercise such as swimming rather than, for example, jumping on a trampoline.

In 1996, Soliman and colleagues reported that there is defective secretion of growth hormone in pycnodysostosis. Replacement treatment with growth hormone was then tested. It was found to increase the growth of the length of bones (linear growth). Since short stature is an important consequence of pycnodysostosis, growth hormone treatment may prove very useful.

Medically reviewed by Aimee V. HachigianGould, MD; American Board of Orthopaedic Surgery

"Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency."
Gelb BD, Shi GP, Chapman HA, Desnick RJ

Medically Reviewed by a Doctor on 4/13/2015

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Pycnodysostosis - Treatment Question: What was the treatment for your pycnodysostosis?
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