The Journey From Vitamin D–Resistant Rickets to the Regulation of Renal Phosphate Transport

Abstract

(6) discuss the genetic and acquired disorders of hypophosphatemia and hyperphosphatemia in which FGF23 plays a role. Although Albright could not measure parathyroid hormone, he concluded on the basis of his studies that showed calcemic resistance to parathyroid extract in W.M. that hyperparathyroidism was present. Using a conceptual approach, we suggest that a defect in the skeletal response to parathyroid hormone contributes to hyperparathyroidism in XLH. Finally, at the end of the review, abnormalities in renal phosphate transport that are sometimes found in patients with polyostotic fibrous dysplasia are discussed.

Hypovitaminosis D in adolescent females – an analytical cohort study in the United Arab Emirates

“…Hyperphosphoraemia in the context of hypovitaminosis may mimic pseudohypoparathyroidism type 2 and is a transient condition caused by renal tubular cell receptor desensitisation/resistance to chronically elevated serum parathormone levels. [47][48][49] The strength of this study was the large sample size of a representative group of subjects. The methods of estimating vitamin D dietary intake and sun exposure have been validated in many studies.…”

Phosphate metabolism and vitamin D

“…51 On the other hand, vitamin D-resistant rickets is sometimes used as a synonym for XLHR partly because this disease is the most frequent cause of vitamin D-resistant rickets. 52 However, since the identification of FGF23, several kinds of rickets with similar clinical and biochemical features to XLHR were shown to be caused by excess actions of FGF23.…”

Clinical, hormonal, biochemical and genetic characteristics of 75 patients with hypophosphatemic rickets

“…Эти ко-транспортеры регулируют реабсорбцию фосфора в проксимальных почечных канальцах; снижение их числа и активности ведет к потере организмом этого элемента. FGF23 также подавляет активность 1α-гидроксилазы (CEP27B1), которая образует актив-ную форму витамина D (кальцитриол) и, наоборот, активирует 24-гидроксилазу (CYP24A1), превращаю-щую кальцитриол в неактивные метаболиты [24].…”