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ba0002p44 | (1) | ICCBH2013

A homozygous mutation in the DNA binding domain of human vitamin D receptor causes vitamin D resistant rickets

van der Eerden Bram , van der Heyden Josine , Hamburger Jan Piet , Schreuders-Koedam Marijke , Asmawidjaja Patrick , de Muinck Keizer-Schrama Sabine , Lubberts Erik , van Leeuwen Johannes , Drop Stenvert

In this case report, we present a brother and sister with hereditary vitamin D resistant rickets (HVDRR). Both children presented at the age of 18 months with severe rickets and elevated serum levels of 1,25-(OH)2D3. They differ from each other in that the girl presented with hypophosphatemia instead of hypocalcemia. Besides, she developed alopecia earlier than the boy and needed more 1,25-(OH)2D3 supplementation. Interestingly, the ...

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A homozygous mutation in the DNA binding domain of human vitamin D receptor causes vitamin D resistant rickets

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