Nom anglais: Polycystic Kidney, Autosomal Dominant
Descriptor UI:D016891
Tree Number:C16.320.184.625.500
Termes MeSH sélectionnés :
Gene Expression
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"headline": "Diagnostic sur Polykystose rénale autosomique dominante",
"description": "Comment diagnostiquer la polykystose rénale autosomique dominante ?\nQuels tests génétiques sont utilisés pour le diagnostic ?\nQuels signes cliniques indiquent cette maladie ?\nÀ quel âge se manifeste généralement la maladie ?\nL'échographie est-elle suffisante pour le diagnostic ?",
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"description": "Quels traitements sont disponibles pour cette maladie ?\nLes médicaments peuvent-ils ralentir la progression ?\nLa dialyse est-elle nécessaire pour tous les patients ?\nY a-t-il des traitements expérimentaux disponibles ?\nComment gérer les douleurs associées à la maladie ?",
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"description": "Quels sont les facteurs de risque de la polykystose rénale ?\nL'âge influence-t-il le risque de développer la maladie ?\nLes hommes sont-ils plus à risque que les femmes ?\nLes personnes ayant des antécédents de maladies rénales sont-elles à risque ?\nLe mode de vie influence-t-il le risque ?",
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"@type": "Question",
"name": "Comment diagnostiquer la polykystose rénale autosomique dominante ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic repose sur l'imagerie, comme l'échographie ou l'IRM, et l'historique familial."
}
},
{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés pour le diagnostic ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests génétiques peuvent identifier des mutations dans les gènes PKD1 ou PKD2."
}
},
{
"@type": "Question",
"name": "Quels signes cliniques indiquent cette maladie ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les signes incluent hypertension, douleurs abdominales et hématurie."
}
},
{
"@type": "Question",
"name": "À quel âge se manifeste généralement la maladie ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes apparaissent souvent entre 30 et 40 ans, mais peuvent survenir plus tôt."
}
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{
"@type": "Question",
"name": "L'échographie est-elle suffisante pour le diagnostic ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'échographie est souvent suffisante pour visualiser les kystes rénaux."
}
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{
"@type": "Question",
"name": "Quels sont les symptômes courants de la maladie ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent douleurs lombaires, hypertension, et infections urinaires fréquentes."
}
},
{
"@type": "Question",
"name": "La polykystose rénale cause-t-elle des problèmes urinaires ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle peut entraîner des infections urinaires et des calculs rénaux."
}
},
{
"@type": "Question",
"name": "Peut-on avoir des symptômes sans kystes visibles ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains patients peuvent ne pas avoir de kystes visibles mais présenter des symptômes."
}
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"@type": "Question",
"name": "Les symptômes varient-ils d'une personne à l'autre ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'intensité et la nature des symptômes peuvent varier considérablement entre les individus."
}
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{
"@type": "Question",
"name": "La fatigue est-elle un symptôme associé ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la fatigue peut être un symptôme en raison de l'insuffisance rénale progressive."
}
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{
"@type": "Question",
"name": "Peut-on prévenir la polykystose rénale autosomique dominante ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La maladie étant génétique, il n'existe pas de prévention, mais un suivi régulier est conseillé."
}
},
{
"@type": "Question",
"name": "Comment surveiller la maladie chez les membres de la famille ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des échographies régulières et des consultations médicales sont recommandées pour les membres à risque."
}
},
{
"@type": "Question",
"name": "L'alimentation peut-elle influencer la maladie ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée et une bonne hydratation peuvent aider à maintenir la santé rénale."
}
},
{
"@type": "Question",
"name": "Le contrôle de la pression artérielle est-il important ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, maintenir une pression artérielle normale est crucial pour ralentir la progression de la maladie."
}
},
{
"@type": "Question",
"name": "Les examens réguliers sont-ils nécessaires ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des examens réguliers permettent de détecter précocement des complications potentielles."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour cette maladie ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement inclut la gestion de l'hypertension et, dans les cas avancés, la dialyse ou la transplantation."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils ralentir la progression ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des médicaments comme les inhibiteurs de l'angiotensine peuvent aider à contrôler la pression artérielle."
}
},
{
"@type": "Question",
"name": "La dialyse est-elle nécessaire pour tous les patients ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, la dialyse est nécessaire uniquement lorsque la fonction rénale est gravement altérée."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux disponibles ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des traitements expérimentaux, comme les médicaments ciblant la croissance des kystes, sont en cours d'étude."
}
},
{
"@type": "Question",
"name": "Comment gérer les douleurs associées à la maladie ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des analgésiques et des traitements non médicamenteux peuvent aider à gérer la douleur."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles de la maladie ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent l'insuffisance rénale, les infections urinaires et les kystes hépatiques."
}
},
{
"@type": "Question",
"name": "La polykystose rénale augmente-t-elle le risque de maladies cardiovasculaires ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients ont un risque accru de maladies cardiovasculaires en raison de l'hypertension."
}
},
{
"@type": "Question",
"name": "Les kystes peuvent-ils se développer dans d'autres organes ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des kystes peuvent également se former dans le foie, le pancréas et d'autres organes."
}
},
{
"@type": "Question",
"name": "Comment l'insuffisance rénale affecte-t-elle la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'insuffisance rénale peut entraîner fatigue, limitations physiques et besoin de dialyse, affectant la qualité de vie."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles être évitées ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être évitées par un suivi médical régulier et un bon contrôle de la pression artérielle."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque de la polykystose rénale ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux de la maladie sont le principal facteur de risque."
}
},
{
"@type": "Question",
"name": "L'âge influence-t-il le risque de développer la maladie ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le risque augmente avec l'âge, surtout après 30 ans."
}
},
{
"@type": "Question",
"name": "Les hommes sont-ils plus à risque que les femmes ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, la polykystose rénale touche les hommes et les femmes de manière égale."
}
},
{
"@type": "Question",
"name": "Les personnes ayant des antécédents de maladies rénales sont-elles à risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les antécédents de maladies rénales peuvent augmenter le risque de complications."
}
},
{
"@type": "Question",
"name": "Le mode de vie influence-t-il le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un mode de vie sain peut réduire le risque de complications, mais pas le risque de la maladie elle-même."
}
}
]
}
]
}
Sepsis causes significant mortality. However, most patients who die of sepsis do not present with severe infection, hampering efforts to deliver early, aggressive therapy. It is also known that the ho...
Retrospective differential gene expression analysis and predictive modeling using RNA sequencing data....
Two hundred seventy-seven patients enrolled at four large academic medical centers; all with clinically adjudicated infection were considered for inclusion in this study....
Sepsis progression was defined as an increase in Sepsis 3 category within 72 hours. Transcriptomic data were generated using RNAseq of whole blood. Least absolute shrinkage and selection operator mode...
Host gene expression was unable to predict sepsis progression when defined by an increase in Sepsis-3 category, suggesting this definition is not a useful framework for transcriptomic prediction metho...
In eukaryotic cells, the process of gene expression is confined to the nucleus and enabled by multisubunit RNA polymerases (RNAPs). Many viruses make use of the host cellular gene expression apparatus...
Quantitative gene regulation at the cell population level can be achieved by two fundamentally different modes of regulation at individual gene copies. A 'digital' mode involves binary ON/OFF expressi...
Many diseases are caused by insufficient expression of mutated genes and would benefit from increased expression of the corresponding protein. However, in drug development, it has been historically ea...
Nuclear speckles are dynamic membraneless bodies located in the cell nucleus. They harbor RNAs and proteins, many of which are splicing factors, that together display complex biophysical properties di...
Glucagon-like peptide 1 receptor agonists (GLP-1RAs) may have nephroprotective properties beyond those related to weight loss and glycemic control....
To investigate the association of genetically proxied GLP-1RAs with kidney disease progression....
This genetic association study assembled a national retrospective cohort of veterans aged 18 years or older from the US Department of Veterans Affairs Million Veteran Program between January 10, 2011,...
Genetic risk score for systemic GLP1R gene expression that was calculated for each study participant based on genetic variants associated with GLP1R mRNA levels across all tissue samples within the Ge...
The primary composite outcome was incident end-stage kidney disease or a 40% decline in estimated glomerular filtration rate. Cox proportional hazards regression survival analysis assessed the associa...
Among 353 153 individuals (92.5% men), median age was 66 years (IQR, 58.0-72.0 years) and median follow-up was 5.1 years (IQR, 3.1-7.2 years). Overall, 25.7% had diabetes, and 45.0% had obesity. A tot...
In this genetic association study, higher GLP1R gene expression was associated with a small reduction in risk of kidney disease progression. These findings support pleiotropic nephroprotective mechani...
Biochemical reactions that involve small numbers of molecules are accompanied by a degree of inherent randomness that results in noisy reaction outcomes. In synthetic biology, the ability to minimize ...
Understanding the relationship between mutations and their genomic and phenotypic consequences has been a longstanding goal of evolutionary biology. However, few studies have investigated the impact o...
Viruses have evolved a multitude of mechanisms to combat barriers to productive infection in the host cell. Virally-encoded miRNAs are one such means to regulate host gene expression in ways that bene...
Gene expression variance has been linked to organismal function and fitness but remains a commonly neglected aspect of molecular research. As a result, we lack a comprehensive understanding of the pat...