PubMed · 11124849
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S Rouillard, N E Lane. 2001. Hepatic osteodystrophy.. https://doi.org/10.1053/jhep.2001.20533
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Hyperimmunoglobulin E (HIE) syndrome is a primary immunodeficiency disorder characterized by recurrent bacterial infections in presence of very high serum Ig E levels. We are reporting a nine-year-old child with HIE syndrome and reviewing literature on this disease.
Osteoprotegerin-ligand, also called Osteoclast Differentiation Factor or RANK-ligand, its receptor RANK and its decoy receptor Osteoprotegerin are key molecules regulating osteoclast differentiation and activation. In this view we discuss structure and expression of these molecules, the genetic models addressing their function and their role in in vivo models of osteoclast differentiation and activation. The new paradigm that has evolved from these studies, is not only important in normal bone homeostasis but also appears to play a role in different diseases that affect the skeleton, such as osteoporosis, inflammatory joint disease and cancer. It has opened a new era in bone research by increasing our molecular knowledge and providing new therapeutic targets in bone disease.
A case of crippling osteoporosis with muscular weakness, hypophosphatemia, hyperparathyroidism, defective skeletal calcification and cartilage destruction is reported. The patient, a male was observed from the age of 2 1/2 until his death at the age of 33 years. This bone/cartilage disease failed to respond to phosphate supplementation, parathyroidectomy and calcitriol. We believe this may represent a hitherto undescribed entity.