4. Vitamin D-Dependent Osteomalacia Type I, II

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Vitamin 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...

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Vitamin D - Dependent Rickets, Type II Case Report

AIM The aim of this work the report of one case with vitamin D-dependent rickets, type II. METHODS Diagnosis has been established based on anamnesis, physical examination, laboratory findings and radiological examination. RESULTS A female child (age 25 months) has been hospitalized due to bone deformity, bone pain, alopecia and walking difficulties. The laboratory findings have revealed tha...

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First Australian report of vitamin D-dependent rickets type I.

A 20-month-old white Australian girl presented to the Women’s and Children’s Hospital in Adelaide, South Australia, with a 6-month history of developmental regression of gross motor skills, failure to thrive and irritability, in particular distress when “she was wearing her shoes”. At 14 months of age, she had been crawling, pulling to stand and cruising, but at presentation her gross motor ski...

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Vitamin D Deficiency including Osteomalacia and Rickets

Adequate vitamin D3 by synthesis in the skin and from dietary and supplemental sources is essential for bone health throughout life. [1] Rickets in children and osteomalacia in adults are the classic but extreme manifestations of severe vitamin D deficiency. Links have also been shown between poor vitamin D status and breast cancer, bowel cancer, prostate cancer, lung cancer, metabolic syndrome...

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Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene.

Hereditary vitamin D-resistant rickets type or vitamin D-dependent rickets type II is a genetically determined and rare autosomal recessive disorder, most often caused by mutations in the vitamin D receptor gene. It usually presents with rachitic changes not responsive to vitamin D treatment and the circulating levels of 1,25 (OH)2 vitamin D-3 are elevated, differentiating it from vitamin D-dep...

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ژورنال

عنوان ژورنال: Nihon Naika Gakkai Zasshi

سال: 2007

ISSN: 0021-5384,1883-2083

DOI: 10.2169/naika.96.737