ECTS2013 Poster Presentations Clinical case posters (12 abstracts)
The possibility rule of new mutations in juvenile Paget's disease (A rare case of mild JPD)
Judit Donath 1 , Gabor Speer 2 , Janos Kosa 2 , Peter Lakatos 2 & Gyula Poor 1
1National Institute of Rheumatology and Physiotherapy, Budapest, Hungary; 2First Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
Background: Juvenile Paget’s disease (JPD) is a rare autosomal-recessive condition. The disease is typically diagnosed in infants or young children and characterized by a generalized increased in bone turnover, bone pain, skeletal deformity and increased risk of pathological fractures. In our knowledge, inactivating mutations in the TNFRSF11B gene, which encodes osteoprotegerin, cause JPD, yet. There are no randomized controlled trials which to offer the optimal form of the disease management. We summarize the result from the literature and describe a women presented characteristic features of JPD.
Methods: A 30-year-old women presented with both femur and tibia deformity and bone pain. She had pathological fracture when she was 10 years old. 5 mg zoledronic acid infusion was given. Serum alkaline phosphatase (ALP) level, radiology, bone scintigraphy, densitometry were monitored. Genetic markers were evaluated by PCR method.
Results: After zoledronic acid infusion bone pain and ALP level decreased, the densitometry increased. Genetically, after the target genes and regions selection, we found two mutations of genes CSF1 and DCSTAMP.
Conclusions: We conclude that intravenous zoledronic acid therapy are effective for supressing bone turnover and improving symptoms in JPD but the long-term effects on clinical outcomes are unclear.
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