William C. Shiel Jr., MD, FACP, FACR
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
In this Article
- Pycnodysostosis facts
- What is pycnodysostosis?
- What is basis for the name of this disease?
- What are the characteristics of pycnodysostosis?
- How is pycnodysostosis inherited?
- What are the risks of pycnodysostosis?
- What is the molecular story with pycnodysostosis?
- Could there be a connection between pycnodysostosis and osteoporosis?
- What is the treatment for pycnodysostosis?
What is the treatment for pycnodysostosis?
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 Margaret Walsh, MD; American Board of Pediatrics
"Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency."
Gelb BD, Shi GP, Chapman HA, Desnick RJ
Viewers share their comments
Find out what women really need.