By David Heath and Stephen J. Marx (Eds.)
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The evolution of the earliest cells. Scientific American, 239 (3), 110-112, 114, 116-120, passim (1978) 120 SCRIVER, c. R. Vitamin D dependency. Pediatrics, 45, 361-363 (1970) 121 SCRIVER, c. R. Rickets and the pathogenesis of impaired tubular transport of phosphate and other solutes. American Journal of Medicine, 57, 43-49 (1974) 122 SCRIVER, c. R. The William Allan Memorial Award Address: on phosphate transport and genetic screening. 'Understanding backward - living forward' in human genetics.
Children have usually had typical rachitic deformities with stunted stature. Only in one child did signs of rickets first appear during school age14. This child, like several others, required orthopedic surgery to correct deformities. All patients had received high-dosage vitamin D treatment for various periods in various doses and with varying degrees of success before diagnosis of end-organ refractoriness to l,25(OH)2D was established. Some were young adults when the definitive tests were carried out14'91,161.
Vitamin D dependency rickets Type II is a rare condition. However, since the metabolic disturbance cannot be readily differentiated from autosomal recessive vitamin D dependency Type I except by measuring the level of l,25(OH)2D3, the disease may have been missed in the past, and may possibly prove to be of more frequent occurrence when the above diagnostic tests are applied. A strong hereditary tendency is evident from the published reports. Two or more sibs were affected in four of the eight reported kindreds7'85'91,113.