Familial associations for Addison's disease and between Addison's disease and other autoimmune diseases
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F20%3A10421392" target="_blank" >RIV/00216208:11140/20:10421392 - isvavai.cz</a>
Výsledek na webu
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=FeXdVDZlD_" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=FeXdVDZlD_</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1530/EC-20-0328" target="_blank" >10.1530/EC-20-0328</a>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Familial associations for Addison's disease and between Addison's disease and other autoimmune diseases
Popis výsledku v původním jazyce
Design: Addison's disease (AD) is a rare autoimmune disease (AID) of the adrenal cortex, present as an isolated AD or part of autoimmune polyendocrine syndromes (APSs) 1 and 2. Although AD patients present with a number of AID co-morbidities, populationbased family studies are scarce, and we aimed to carry out an unbiased study on AD and related AIDs. Methods: We collected data on patients diagnosed with AIDS in Swedish hospitals and calculated standardized incidence ratios (SIRs) in families for concordant AD and for other AIDS, the latter as discordant relative risks. Results: The number of AD patients was 2852, which accounted for 0.4% of all hospitalized AIDS. A total of 62 persons (3.6%) were diagnosed with familial AD. The SIR for siblings was remarkably high, reaching 909 for singleton siblings diagnosed before age 10 years. It was 32 in those diagnosed past age 29 years and the risk for twins was 323. SIR was 9.44 for offspring of affected parents. AD was associated with 11 other AIDS, including thyroid AIDS and type 1 diabetes and some rarer AIDS such as Guillain-Barre syndrome, myasthenia gravis, polymyalgia rheumatica and Sjogren's syndrome. Conclusions: The familial risk for AD was very high implicating genetic etiology, which for juvenile siblings may be ascribed to APS-1. The adult part of sibling risk was probably contributed by recessive polygenic inheritance. AD was associated with many common AIDS; some of these were known co-morbidities in AD patients while some other appeared to more specific for a familial setting.
Název v anglickém jazyce
Familial associations for Addison's disease and between Addison's disease and other autoimmune diseases
Popis výsledku anglicky
Design: Addison's disease (AD) is a rare autoimmune disease (AID) of the adrenal cortex, present as an isolated AD or part of autoimmune polyendocrine syndromes (APSs) 1 and 2. Although AD patients present with a number of AID co-morbidities, populationbased family studies are scarce, and we aimed to carry out an unbiased study on AD and related AIDs. Methods: We collected data on patients diagnosed with AIDS in Swedish hospitals and calculated standardized incidence ratios (SIRs) in families for concordant AD and for other AIDS, the latter as discordant relative risks. Results: The number of AD patients was 2852, which accounted for 0.4% of all hospitalized AIDS. A total of 62 persons (3.6%) were diagnosed with familial AD. The SIR for siblings was remarkably high, reaching 909 for singleton siblings diagnosed before age 10 years. It was 32 in those diagnosed past age 29 years and the risk for twins was 323. SIR was 9.44 for offspring of affected parents. AD was associated with 11 other AIDS, including thyroid AIDS and type 1 diabetes and some rarer AIDS such as Guillain-Barre syndrome, myasthenia gravis, polymyalgia rheumatica and Sjogren's syndrome. Conclusions: The familial risk for AD was very high implicating genetic etiology, which for juvenile siblings may be ascribed to APS-1. The adult part of sibling risk was probably contributed by recessive polygenic inheritance. AD was associated with many common AIDS; some of these were known co-morbidities in AD patients while some other appeared to more specific for a familial setting.
Klasifikace
Druh
J<sub>imp</sub> - Článek v periodiku v databázi Web of Science
CEP obor
—
OECD FORD obor
30502 - Other medical science
Návaznosti výsledku
Projekt
—
Návaznosti
R - Projekt Ramcoveho programu EK
Ostatní
Rok uplatnění
2020
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Endocrine Connections
ISSN
2049-3614
e-ISSN
—
Svazek periodika
9
Číslo periodika v rámci svazku
11
Stát vydavatele periodika
GB - Spojené království Velké Británie a Severního Irska
Počet stran výsledku
7
Strana od-do
1114-1120
Kód UT WoS článku
000600555600001
EID výsledku v databázi Scopus
2-s2.0-85098243351