Vitamin D - Dependent Rickets, Type II Case Report
نویسندگان
چکیده
منابع مشابه
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...
متن کاملFirst 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...
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 کاملVitamin 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: Materia Socio Medica
سال: 2014
ISSN: 1512-7680
DOI: 10.5455/msm.2014.26.68-70