Clinical characteristics and the influence of rs1800470 in patients with Camurati-Engelmann disease.

ABSTRACT:

Background

Camurati-Engelmann disease (CED) is a sclerosing bone dysplasia caused by transforming growth factor β1 (TGFB1) gene variants.

Objective

We aim to summarize the clinical characteristics and the efficacy of glucocorticoids in 14 individuals with CED, and explore the correlation between the phenotype and the SNP of rs1800470 (c.29C>T).

Methods

Clinical, biochemical, radiological, and therapeutic data were collected from 14 patients. DNA was extracted for TGFB1 variants detection by Sanger sequencing.

Results

The median onset and record age were 3.0 and 16.1 years, respectively. All patients manifested bone pain and decreased subcutaneous fat tissue. Inflammatory markers increased in over 60% of patients, and the median erythrocyte sedimen

SUBMITTER: Liang H 

PROVIDER: S-EPMC9631481 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature