Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
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چکیده
منابع مشابه
Hereditary Pseudo-Deficiency Rickets or Vitamin D-Dependency Type I
Following the description in 1937 by Albright, Butler, and Bloomberg (1) of "rickets resistant to vitamin D," a number of observations were published, particularly by Van Crefeld and Arons (2), Fraser and Salter (3), and by Royer (4) which indicated that there was a variant of resistant rickets which differed from classical hereditary hypophosphatemic vitamin D-resistant rickets by its clinical...
متن کاملCloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1.
The secosteroid hormone, 1,25-dihydroxyvitamin D [1,25(OH)2D], plays a crucial role in normal bone growth, calcium metabolism, and tissue differentiation. The key step in the biosynthesis of 1,25(OH)2D is its 1 alpha-hydroxylation from 25-hydroxyvitamin D (25-OHD) in the kidney. Because its expression in the kidney is very low, we cloned and sequenced cDNA for 25-OHD-1 alpha-hydroxylase (P450c1...
متن کاملVitamin D dependent rickets type I
Vitamin D is present in two forms, ergocalciferol (vitamin D(2)) produced by plants and cholecalciferol (vitamin D(3)) produced by animal tissues or by the action of ultraviolet light on 7-dehydrocholesterol in human skin. Both forms of vitamin D are biologically inactive pro-hormones that must undergo sequential hydroxylations in the liver and the kidney before they can bind to and activate th...
متن کاملVitamin D-dependent Rickets
1,25(0H)2D3 induces 25(OH)D3-24-hydroxylase (24-OHase) in cultured skin fibroblasts from normal subjects. We evaluated 24-OHase induction by 1,25(0H)2D3 in skin fibroblasts from 10 normal subjects and from four unrelated patients with hereditary resistance to 1,25(OH)2D or vitamin D-dependent rickets type II (DD II). Fibroblasts were preincubated with varying concentrations of 1,25(0H)2D3 for 1...
متن کاملPhrynoderma : A Condition Due to Vitamin Deficiency
The symptoms, pathology, course and complications of such deficiency diseases as pellagra, beriberi, and scurvy are well defined, even if the final details of their aetiologies have not been decided. But these are conditions which are familiar to many medical men who work among the indigent classes of the tropics and to which they refer by such indefinite terms as marasmus, malnutrition, defici...
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ژورنال
عنوان ژورنال: Journal of Bone and Mineral Research
سال: 2017
ISSN: 0884-0431
DOI: 10.1002/jbmr.3181