A series of autoimmune disorders, often Addison's disease, type 1 diabetes mellitus, and thyroid autoimmunity, frequently occurs together in patients with the autoimmune polyendocrine syndrome type II (APS-II). The highest risk HLA genotype for Addison's disease, either as a single disease or in APS-II patients, consists of the genotype DR3/4, DQ2/DQ8 with DRB1*0404. As many as 30% of patients with Addison's disease have this genotype versus less than 0.5% of controls. An additional and important associated locus within the HLA region is the class I related gene, MIC-A. Patients who develop Addison's disease often have a delayed diagnosis and may die from Addisonian crisis; therefore, improved genetic testing combined with testing for 21-hydroxylase autoantibodies might allow the identification of relatively high-risk populations (greater than 1 in 200 defined genetic risk compared with 1 in 10,000 population risk).
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/s0889-8529(01)00015-9 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Can we predict hypoadrenocorticism in dogs with resting hypocortisolemia? A predictive model based on clinical, haematological, and biochemical variables.
Front Vet Sci
December 2024
Faculty of Veterinary Medicine, Veterinary Teaching Hospital, University of Lisbon, Lisbon, Portugal.
Background: A resting cortisol concentration (RC) higher than 2.0 μg/dL (55 nmol/L) is commonly used to rule out hypoadrenocorticism (HA). However, there is a significant overlap of RC between dogs with HA and those with other diseases.
View Article and Find Full Text PDFPrimary ovarian insufficiency consequence of autoimmune diseases: a bidirectional two-sample Mendelian randomization study.
Front Endocrinol (Lausanne)
December 2024
Department of Obstetrics and Gynecology, The First Affiliated Hospital of Ningbo University, Ningbo, China.
Background: Observational studies suggest the risk of primary ovarian insufficiency (POI) is increased in autoimmune disorders (AIDs), but it is unclear whether there is a causal relationship. Therefore, we aimed to investigate the bidirectional causality between 20 AIDs and POI using Mendelian randomization (MR) analysis.
Methods: A bidirectional two-sample MR investigation was designed by using publicly accessible summary-level data from genome-wide association studies (GWAS).
Atypical presentation of Addison's disease with chest pain and dizziness: A case report and literature review.
Semergen
December 2024
Departamento de Cirugía, Facultad de Medicina y Odontología, Universidad de Valencia, Valencia, Spain.
Summary: An oral contraceptive pill (OCP)-induced increase in total cortisol lead to reversible suppression of the hypothalamic-pituitary-adrenal (HPA) axis and insulin resistance (IR) in a patient with Addison's disease. We suggest that this might influence the choice of an OCP in such patients. A 20-year-old female was diagnosed with Addison's disease (cortisol: 44 nmol/L, adrenocorticotropic hormone (ACTH): >500 pg/mL) and started on hydrocortisone (HC).
View Article and Find Full Text PDFNon-Contact Monitoring of Inhalation-Exhalation (I:E) Ratio in Non-Ventilated Subjects.
IEEE J Transl Eng Health Med
December 2024
Acute Care and Monitoring, Medtronic Boulder CO USA.
Article Synopsis
- The inhalation-exhalation (I:E) ratio is a key indicator of respiratory health, and this study explores a non-contact method using a depth sensing camera to measure it.
- Healthy volunteers produced a range of I:E ratios, and the data was collected and analyzed in real-time, leading to accurate measurements similar to traditional spirometry.
- This non-contact approach could be a valuable tool for ongoing monitoring of respiratory conditions like COPD and asthma, allowing clinicians to track patient status without requiring physical devices.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!