Titre : Polykystose rénale autosomique dominante

Polykystose rénale autosomique dominante : Questions médicales fréquentes

Termes MeSH sélectionnés :

Fontan Procedure
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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 ?", "url": "https://questionsmedicales.fr/mesh/D016891?mesh_terms=Fontan+Procedure&page=3#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Polykystose rénale autosomique dominante", "description": "Quels sont les symptômes courants de la maladie ?\nLa polykystose rénale cause-t-elle des problèmes urinaires ?\nPeut-on avoir des symptômes sans kystes visibles ?\nLes symptômes varient-ils d'une personne à l'autre ?\nLa fatigue est-elle un symptôme associé ?", "url": "https://questionsmedicales.fr/mesh/D016891?mesh_terms=Fontan+Procedure&page=3#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Polykystose rénale autosomique dominante", "description": "Peut-on prévenir la polykystose rénale autosomique dominante ?\nComment surveiller la maladie chez les membres de la famille ?\nL'alimentation peut-elle influencer la maladie ?\nLe contrôle de la pression artérielle est-il important ?\nLes examens réguliers sont-ils nécessaires ?", "url": "https://questionsmedicales.fr/mesh/D016891?mesh_terms=Fontan+Procedure&page=3#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Polykystose rénale autosomique dominante", "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 ?", "url": "https://questionsmedicales.fr/mesh/D016891?mesh_terms=Fontan+Procedure&page=3#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Polykystose rénale autosomique dominante", "description": "Quelles sont les complications possibles de la maladie ?\nLa polykystose rénale augmente-t-elle le risque de maladies cardiovasculaires ?\nLes kystes peuvent-ils se développer dans d'autres organes ?\nComment l'insuffisance rénale affecte-t-elle la qualité de vie ?\nLes complications peuvent-elles être évitées ?", "url": "https://questionsmedicales.fr/mesh/D016891?mesh_terms=Fontan+Procedure&page=3#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Polykystose rénale autosomique dominante", "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 ?", "url": "https://questionsmedicales.fr/mesh/D016891?mesh_terms=Fontan+Procedure&page=3#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@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." } }, { "@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." } }, { "@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." } }, { "@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." } }, { "@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." } }, { "@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." } } ] } ] }

Sources (8057 au total)

CA125: a new biomarker in patients with Fontan circulation.

Patients with Fontan circulation (FC) have a high incidence of clinical complications. However, no biomarker is able to accurately stratify risk. The aim of this study was to analyze the relationship ... Cross-sectional study of patients with FC. The clinical endpoint was the combination of heart failure, atrial arrhythmias, veno-venous fistulae, protein-losing enteropathy, or plastic bronchitis. Demo... We included 56 patients (27.4±7.8 years). A total of 34% showed the composite endpoint, with significantly higher CA125 levels (30.1 IU/mL vs 12.6 IU/mL; P=.001). In the multivariate model, the biomar... CA125 elevation is associated with a higher prevalence of complications in patients with Fontan-type circulation. CA125 levels ≥ 20U/mL, FIB4 ≥ 0.75 and RDW ≥ 14.5% identify with a high probability th...

Hepatic fibrosis gender differences in extracardiac Fontan patients.

We investigated possible gender differences for hepatic fibrosis in extracardiac-Fontan patients.... We identified extracardiac Fontan, performed between 2000 and 2016, who underwent cardiac catheterizations with transvenous hepatic biopsies between April 2012 and June 2022. We divided the patients b... We identified 116 patients who underwent 145 transvenous biopsies, with 29 patients undergoing 2 biopsies at an average interval of 5 ± 1 years. We divided the 145 biopsies into two groups: 1) 98/145 ... Females had statistically significantly higher median total fibrosis scores than males for the similar average age at extracardiac Fontan and average Fontan duration....

Fontan failure: phenotypes, evaluation, management, and future directions.

Management of "failing" and "failed" Fontan circulation, particularly the indications, timing, and type of re-intervention, currently remains nebulous. Factors contributing to pathogenesis and mortali... Since organ systems in individual patients are affected differently, we searched the extant literature for a "failing" and "failed" Fontan reviewing the clinical phenotypes, diagnostic modalities, pha... A total of 410 investigations were synthesised. Although proper candidate selection, thoughtful technical modifications, timely deployment of mechanical support devices, tissue-engineered conduits, an... An individualised management strategy according to clinical phenotypes may delay the organ damage in patients with a failing Fontan circulation. At present, cardiac transplantation remains the last st...

Fontan-associated liver disease after heart transplant.

Fontan associated liver disease (FALD) potentially impacts Fontan patients undergoing heart transplant. This multi-center study sought to identify pre-transplant risk factors and characterize any post... Review of Fontan patients at 12 pediatric institutions who underwent heart transplant between 2001-2019. Radiologists reviewed pre and post-transplant liver imaging for fibrosis. Laboratory, pathology... 156 patients underwent transplant due to decreased ventricular function (49%), protein losing enteropathy (31%) or plastic bronchitis (10%); median age at transplant was 13.6 years (interquartile rang... Elevated bilirubin, but not fibrosis on liver imaging, was associated with post-heart transplant mortality in Fontan patients in this multicenter retrospective study. Additionally, heart transplant ma...

Stress imaging in patients with a Fontan circulation: A systematic review.

The aims of this study were to provide an overview of the cardiac stress response in Fontan patients and of the use, safety and clinical value of stress imaging in Fontan patients.... Studies evaluating cardiac function using stress imaging in Fontan patients published up until 12 December 2021 were included in this review.... From 1603 potential studies, 32 studies met the inclusion criteria. In total, stress imaging tests of 728 Fontan patients were included. Cardiac function was most often measured using physical stress ... Cardiac stress response in Fontan patients differs from healthy subjects, reflected by lower increases in heart rate, diminished preload and decreased cardiac output, especially during higher levels o...

Delivery trends and obstetric outcomes in patients with Fontan circulation.

With improved therapies, an increasing number of patients with Fontan circulation reach reproductive age. Pregnant patients with Fontan circulation are at high risk of obstetrical complications. Most ... This study aimed to evaluate temporal trends in deliveries to pregnant individuals with Fontan palliation using nationwide data and to estimate associated obstetrical complications among these deliver... Delivery hospitalizations were abstracted from the 2000 to 2018 Nationwide Inpatient Sample. Deliveries complicated by Fontan circulation were identified using diagnosis codes, and trends in the rates... A total of 509 pregnancies complicated by Fontan circulation were identified at a rate of 7 per 1 million delivery hospitalizations, with a temporal increase from 2.4 to 30.3 cases per 1 million from ... The rates of deliveries of patients with Fontan palliation are increasing on a national level. These deliveries have higher risks of obstetrical complications and severe maternal morbidity. Additional...

National outcomes of the Fontan operation with endocardial cushion defect.

The traditional outcomes of the Fontan operation (FO) in endocardial cushion defect (ECD) patients have been suboptimal. Previous studies have been limited by the smaller number of ECD patients, longe... A retrospective analysis of the Kids Inpatient Database (2009, 2012, and 2016) for the FO was done. The groups were divided into those who underwent FO with ECD as compared to non-ECD diagnosis. The d... Three thousand three hundred eighty patients underwent the FO of which 360 patients (11%) were FO-ECD. ECD patients were more likely to have Down syndrome, Heterotaxy syndrome, transposition/DORV, and... Contemporary outcomes for FO are excellent with very low overall operative mortality. However, the outcomes in ECD patients are inferior with higher operative mortality than in non-ECD patients. The o...