Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.3.1 (alkaline phosphatase)
 47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Osteoectasia with hyperphosphatasia is a rare skeletal disorder, characterised by demineralisation and expansion of tubular bones and elevated serum alkaline phosphatase. We present a girl diagnosed as having osteoectasia with hyperphosphatasia who had swelling of phalanges of both hands and motor retardation. She was treated with synthetic human calcitonin. Clinical and radiological findings showed remarkable improvement after 2 years' treatment.
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PMID:Calcitonin treatment in osteoectasia with hyperphosphatasia (juvenile Paget's disease): radiographic changes after treatment. 1055 64

Juvenile Paget disease (JPD) is a rare disorder, mainly caused by mutations in the gene TNFRSF11B that encodes osteoprotegerin (OPG). Loss of OPG action causes generalized, extremely rapid bone turnover. The clinical manifestations are both skeletal - progressive skeletal deformity that develops in childhood - and extra-skeletal, including hearing loss, retinopathy, vascular calcification and internal carotid artery aneurysm formation. The severity of the phenotype seems to be related to the severity of TNFRSF11B gene deactivation. JPD is characterized biochemically by very high alkaline phosphatase activity, as well as other bone turnover markers. Bisphosphonates are commonly used to reduce the greatly accelerated bone turnover and can ameliorate the skeletal phenotype, if started early enough in childhood and continued at least until growth is complete. Limited evidence from patients treated with recombinant OPG or denosumab also provided favorable results. Recombinant OPG would represent a replacement treatment, but it is unavailable for clinical use. It seems that life-long treatment with anti-resorptives is required, since the disease is reactivated after treatment discontinuation. An international collaborating network for the continuous registration and follow-up of JPD patients could be helpful in the future.
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PMID:Juvenile Paget disease. 2908 Aug 12