Familial Vitamin D-Resistant Rickets: Metabolic Studies in one Family Concerning Aetiology and Treatment, and Indicating the Separate Actions of Vitamin D

Open Access
Publisher Website
Google Scholar
Abstract
A family of bow-legged children are described whose clinical features fitted the syndrome known as "vitamin D-resistant rickets". Metabolic balances and renal clearance studies were performed on 2 of them. An elevation of serum Ca and P followed the-use of vitamin D in high dosage. This occurred in spite of continued poor gastrointestinal absorption, which in one case persisted for 25 days after therapy was commenced and then improved. It was considered that the source of the Ca which accounted for the hypercalcaemia and hypercalcuria on vitamin D was bone, but that the increase in serum P was accompanied by an improved renal tubular reabsorption. The 3 actions of vitamin D on Ca metabolism appeared nicely separated in these patients. Their disorder seemed to be caused by a mixture of poor intestinal absorption of Ca and increased renal loss of P.