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Osteogenesis Imperfecta: Case Report.

Osteogenesis imperfecta is a genetic disorder characterized by osteoporosis, recurrent bone fractures and, consequently, deformities. In many cases, it is chiefly caused by a dominant mutation in the COL1A1 or COL1A2 genes that encode type I procollagen.

The medical history of our 41-year-old female patient revealed an earlier diagnosis of osteogenesis imperfecta and 4 fractures. She was diagnosed with the disease in her childhood. She was treated with zoledronic acid twice, once per year. In the clinical examination, she reported that she had no new fractures and her pain reduced after zoledronic acid treatment. Blue sclera was present in her physical examination. The laboratory results were as follows: AST 20 U/L, ALT 22 U/L, ALP 81, Ca 8.8 mg/dL, P 3.0 mg/dL, 25 OH vitamin D 35 ng/mL, TSH 0.995 [micro]IU/mL, f[T.sub.4] 1.26 ng/dL, and PTH 40.81 pg/mL. Before zoledronic acid treatment, DEXA lumbar total T score was -2.9 and Z score was -2.7. One year after the second zoledronic acid administration, DEXA lumbar total T score was -2.5 and Z score was -2.2. The patient was treated with zoledronic acid for the third time by our team.

The target of the treatment of the cases with osteogenesis imperfecta is to reduce the fractures and pain and to prevent long-term bone deformities thus improve the patient's functional capacity and mobilization. Recently, no new bone fractures have been observed in our patient treated with zoledronic acid. Bearing drug compliance in mind, zoledronic acid could be an alternative to bisphosphonate treatment for suitable patients with osteogenesis.

Nilufer Ozdemir Kutbay (1), Banu Sarer Yurekli (2), Hatice Ozisik (2), Halit Diri (3)

(1) University of Health Sciences, Gazi Yasargil Training and Research Hospital, Clinic of Endocrinology, Diyarbakir, Turkey

(2) Ege University Faculty of Medicine, Department of Endocrinology and Metabolism Diseases, Izmir, Turkey

(3) University of Health Sciences, Gazi Yasargil Training and Research Hospital, Diyarbakir, Turkey

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Author:Kutbay, Nilufer Ozdemir; Yurekli, Banu Sarer; Ozisik, Hatice; Diri, Halit
Publication:Journal of Clinical Research in Pediatric Endocrinology
Article Type:Case study
Date:Jun 1, 2017
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