Rickets/Osteomalacia. Vitamin D dependency. Kitanaka Sachiko 1 1Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan. pp.1343-1349
Published Date 2018/9/28
DOI https://doi.org/10.20837/42018101343
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 Vitamin D dependency is caused by inborn error in the process of vitamin D metabolism or action. It is classified to vitamin D-dependent rickets type 1 which shows defective 1,25(OH)2D production, and vitamin D-dependent rickets type 2 which shows end-organ unresponsiveness to 1,25(OH)2D. Recent advance in the molecular analysis of these diseases revealed variety in the presentation and in the inheritance patterns. Molecular diagnosis would be preferable for adequate diagnosis and therapy.


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