Bone Abstracts

Alagille syndrome is a multiorganic disorder, which particularly manifests itself with cholestasis, characteristic facial features, circulatory systems defects, defects of the front segment of the eye, dysplastic changes in bones and kidneys and impaired angiogenesis. The disease is caused by Jagged 1 gene mutation (JAG, 20p12 chromosome) which encodes ligand for Notch receptor. JAG/ Notch signaling pathway plays important evolutionary role in cell differentiation in organogenesis process. JAG expression in numerous tissues leads to multiorganic manifestation. Jag expression is substantially important for skeleton growth and bone cells activity. Its malfunction may lead to spine and long bones abnormalities, neoplastic changes and osteoporosis.

A 10-years-old boy with Alagille’s syndrome was diagnosed with secondary osteoporosis. The diagnosis was based upon clinical symptoms (9 bone fractures and crus pains) and densitometric examination (DXA – dual x-ray absorptiometry) method in pediatric program (TBLH z-score −3.2). Treatment included vitamin D and calcium supplementation. However, significant improvement was observed after liver transplant (advised primary disease treatment). Currently z-score TBLH reached −1.5. For over 2 years, no bone fractures or aforementioned pains have been observed.

Conclusion: The basis of secondary osteoporosis treatment is the primary disease treatment. Furthermore, densitometric examination is necessary both in diagnostics and skeletal condition monitoring.

Disclosure: The authors declared no competing interests.