Dataset Information

Polymorphisms of the glucocorticoid receptor and avascular necrosis of the femoral heads after treatment with corticosteroids.

ABSTRACT: A female patient developed avascular necrosis of the femoral heads after receiving low doses of glucocorticosteroids (GC) for 3 months. Genotyping of the GC receptor (GR) showed that she was heterozygous for the Bcl-1 allele and heterozygous for the N363S allele. Interestingly, these GR variants are both associated with higher sensitivity to glucocorticoids. It is not known whether the GR gene polymorphisms are causally related to osteonecrosis. However, the presence of these GR variants, as a combination present in only 1% of the normal Caucasian population, seems suggestive. Studies are warranted to investigate the importance of polymorphisms related to GC sensitivity.

SUBMITTER: Bouamar R

PROVIDER: S-EPMC4421398 | biostudies-literature | 2009 Oct

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Polymorphisms of the glucocorticoid receptor and avascular necrosis of the femoral heads after treatment with corticosteroids.

Bouamar Rachida R Koper Jan Willem JW van Rossum Elisabeth F C EF Weimar Willem W van Gelder Teun T

NDT plus 20090706 5

A female patient developed avascular necrosis of the femoral heads after receiving low doses of glucocorticosteroids (GC) for 3 months. Genotyping of the GC receptor (GR) showed that she was heterozygous for the Bcl-1 allele and heterozygous for the N363S allele. Interestingly, these GR variants are both associated with higher sensitivity to glucocorticoids. It is not known whether the GR gene polymorphisms are causally related to osteonecrosis. However, the presence of these GR variants, as a c ...[more]

PMID: 25949351

Similar Datasets

Project description:Introduction:Perthes disease (PD) is an idiopathic disorder presenting with avascular necrosis to the femoral head, which frequently results in flattening. Long-term function is directly related to the subsequent femoral head sphericity. Current treatment includes mechanical modalities and surgical procedures, which are therapeutic but are not uniformly able to prevent collapse. The use of the nitrogen-containing bisphosphonate zoledronic acid (ZA) to inhibit osteoclastic bone resorption is aimed at preserving femoral head strength, reducing collapse and thus maintaining shape. The proposed multicentre, prospective, randomised controlled trial intends to evaluate the efficacy of ZA treatment in PD. Methods and analysis:An open-label randomised control trial recruiting 100 children (50 each treatment arm) 5 to 16 years old with unilateral PD. Subjects are randomly assigned to either (a) ZA and standard care or (b) Standard care. The primary outcome measure is deformity index (DI), a radiographic parameter of femoral head roundness assessed at 24 months, following 12 months of ZA treatment (3-monthly doses of ZA 0.025?mg/kg at baseline, 3, 6, 9 and 12 months) plus 12 months observation (group A) or 24 months of observation (group B). Secondary outcome measures are femoral head subluxation, Faces Pain scale, Harris hip score and quality of life. Assessments are made at baseline, 3 monthly during the first year of follow-up and then 6 monthly, until the 24th month. Ethics and dissemination:The study commenced following the written approval from the Human Research Ethics Committee. Safety considerations regarding the effects of ZA are monitored which include the subject's symptomatology, mineral status, bone mass and turnover activity, and metaphyseal modelling. Data handling plan requires that all documents, clinical information, biological samples and investigation results will be held in strict confidence by study investigators to preserve its safety and confidentiality. Trial registration number:Australian and New Zealand Clinical Trials ACTRN12610000407099, pre-results.

Dataset Information

Polymorphisms of the glucocorticoid receptor and avascular necrosis of the femoral heads after treatment with corticosteroids.

Publications

Polymorphisms of the glucocorticoid receptor and avascular necrosis of the femoral heads after treatment with corticosteroids.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure