Rickets: It is Not Always Nutritional. A Rare Case of Vitamin D-Dependent Rickets (VDDR) Type I
نویسندگان
چکیده
Rickets is typically due to nutritional cause, namely vitamin D and calcium deficiency worldwide. When there suboptimal response conventional supplementation, alternative causes have be sought. We report a rare case of D-dependent rickets (VDDR) who presented with rachitic features but normal total 25-hydroxyvitamin 25(OH)D level. Conventional inactive supplementation was ineffective high dose alfacalcidol required maintain normocalcaemia.
منابع مشابه
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...
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 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 کاملRickets in the tropics: not always nutritional.
To cite: Singh P, Eske GS, Dhaneria M, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013009786 DESCRIPTION Vitamin D-dependent rickets type I A 6-year-old girl belonging to the lower socioeconomic class of a Muslim community, product of consanguineous marriage presented in the paediatric outpatient department with a history of progressive bowing of limbs...
متن کاملVitamin 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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ژورنال
عنوان ژورنال: Journal of Endocrinology and Metabolism Research
سال: 2022
ISSN: ['2582-7960']
DOI: https://doi.org/10.37191/mapsci-2582-7960-3(2)-029