Nom anglais: Polycystic Kidney, Autosomal Dominant
Descriptor UI:D016891
Tree Number:C16.320.184.625.500
{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "Polykystose rénale autosomique dominante : Questions médicales les plus fréquentes",
"headline": "Polykystose rénale autosomique dominante : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les Polykystose rénale autosomique dominante : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-04-01",
"dateModified": "2025-03-27",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "Polykystose rénale autosomique dominante"
},
"suggestedMinAge": 18,
"suggestedGender": "unisex"
},
{
"@type": "MedicalAudience",
"name": "Médecins",
"audienceType": "Physician",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "France"
}
},
{
"@type": "MedicalAudience",
"name": "Chercheurs",
"audienceType": "Researcher",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "International"
}
}
],
"reviewedBy": {
"@type": "Person",
"name": "Dr Olivier Menir",
"jobTitle": "Expert en Médecine",
"description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale",
"url": "/static/pages/docteur-olivier-menir.html",
"alumniOf": {
"@type": "EducationalOrganization",
"name": "Université Paris Descartes"
}
},
"isPartOf": {
"@type": "MedicalWebPage",
"name": "Polykystoses rénales",
"url": "https://questionsmedicales.fr/mesh/D007690",
"about": {
"@type": "MedicalCondition",
"name": "Polykystoses rénales",
"code": {
"@type": "MedicalCode",
"code": "D007690",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C16.320.184.625"
}
}
},
"about": {
"@type": "MedicalCondition",
"name": "Polykystose rénale autosomique dominante",
"alternateName": "Polycystic Kidney, Autosomal Dominant",
"code": {
"@type": "MedicalCode",
"code": "D016891",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Vicente E Torres",
"url": "https://questionsmedicales.fr/author/Vicente%20E%20Torres",
"affiliation": {
"@type": "Organization",
"name": "Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA; Mayo Clinic Robert M. and Billie Kelley Pirnie Translational Polycystic Kidney Disease Center, Rochester, Minnesota, USA. Electronic address: Torres.vicente@mayo.edu."
}
},
{
"@type": "Person",
"name": "Peter C Harris",
"url": "https://questionsmedicales.fr/author/Peter%20C%20Harris",
"affiliation": {
"@type": "Organization",
"name": "Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN."
}
},
{
"@type": "Person",
"name": "Sarah R Senum",
"url": "https://questionsmedicales.fr/author/Sarah%20R%20Senum",
"affiliation": {
"@type": "Organization",
"name": "Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN."
}
},
{
"@type": "Person",
"name": "None None",
"url": "https://questionsmedicales.fr/author/None%20None",
"affiliation": {
"@type": "Organization",
"name": ""
}
},
{
"@type": "Person",
"name": "Ronald D Perrone",
"url": "https://questionsmedicales.fr/author/Ronald%20D%20Perrone",
"affiliation": {
"@type": "Organization",
"name": "Division of Nephrology, Department of Medicine, Tufts Medical Center, Boston, MA, USA. Electronic address: rperrone@tuftsmedicalcenter.org."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "Parasympathetic activity and total fibrotic kidney in autosomal-dominant polycystic kidney disease patients: a pilot study.",
"datePublished": "2023-04-12",
"url": "https://questionsmedicales.fr/article/37043156",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1007/s11255-023-03551-y"
}
},
{
"@type": "ScholarlyArticle",
"name": "Compliance with a Healthful Plant-Based Diet Is Associated with Kidney Function in Patients with Autosomal Dominant Polycystic Kidney Disease.",
"datePublished": "2024-08-17",
"url": "https://questionsmedicales.fr/article/39203885",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3390/nu16162749"
}
},
{
"@type": "ScholarlyArticle",
"name": "Automated Kidney and Liver Segmentation in MR Images in Patients with Autosomal Dominant Polycystic Kidney Disease: A Multicenter Study.",
"datePublished": "2022-12-29",
"url": "https://questionsmedicales.fr/article/36591351",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.34067/KID.0003192022"
}
},
{
"@type": "ScholarlyArticle",
"name": "A Deep Learning Approach for Automated Segmentation of Kidneys and Exophytic Cysts in Individuals with Autosomal Dominant Polycystic Kidney Disease.",
"datePublished": "2022-06-29",
"url": "https://questionsmedicales.fr/article/35768178",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1681/ASN.2021111400"
}
},
{
"@type": "ScholarlyArticle",
"name": "Cardiometabolic comorbidities in autosomal dominant polycystic kidney disease: a 16-year retrospective cohort study.",
"datePublished": "2023-11-09",
"url": "https://questionsmedicales.fr/article/37946153",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1186/s12882-023-03382-0"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Malformations et maladies congénitales, héréditaires et néonatales",
"item": "https://questionsmedicales.fr/mesh/D009358"
},
{
"@type": "ListItem",
"position": 3,
"name": "Maladies génétiques congénitales",
"item": "https://questionsmedicales.fr/mesh/D030342"
},
{
"@type": "ListItem",
"position": 4,
"name": "Ciliopathies",
"item": "https://questionsmedicales.fr/mesh/D000072661"
},
{
"@type": "ListItem",
"position": 5,
"name": "Polykystoses rénales",
"item": "https://questionsmedicales.fr/mesh/D007690"
},
{
"@type": "ListItem",
"position": 6,
"name": "Polykystose rénale autosomique dominante",
"item": "https://questionsmedicales.fr/mesh/D016891"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : Polykystose rénale autosomique dominante - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Polykystose rénale autosomique dominante",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-05-09",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"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 ?",
"url": "https://questionsmedicales.fr/mesh/D016891?page=5#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?page=5#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?page=5#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?page=5#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?page=5#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?page=5#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."
}
}
]
}
]
}
Renin-angiotensin system hyperactivation in autosomal-dominant polycystic kidney disease (ADPKD) patients leads to early hypertension. Cystic enlargement probably causes parenchymal hypoxia, renin sec...
Sixteen adult ADPKD patients were enrolled in the study. Eleven patients (68.8%) were male, and the median age was 42 years (IQR 36-47.5). HRV parameters were calculated using 24 h-ECG Holter. A kidne...
A statistically significant positive linear correlation was observed between length of kidneys and frequency domain parameters as low frequency (LF) (r = 0.595, p < 0.05) and LFday (r = 0.587, p < 0.0...
We suppose that the increase in TKV and TFV could lead to a parasympathetic tone hyperactivation, probably in response to hypoxic stress and vasoconstriction due to cystic enlargement....
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic kidney disorder with multiple cyst formation that progresses to chronic kidney disease (CKD) and end-stage kidney disease. Plant-based...
Imaging-based total kidney volume (TKV) and total liver volume (TLV) are major prognostic factors in autosomal dominant polycystic kidney disease (ADPKD) and end points for clinical trials. However, v...
The convolutional neural network was trained on a large multicenter dataset consisting of 992 MRI scans of 327 patients. Manual segmentation delivered ground-truth labels. The model's performance was ...
The segmentation model yielded excellent performance, achieving a median per study Dice coefficient of 0.92-0.97 for the kidneys and 0.96 for the liver. Automatically computed TKV correlated highly wi...
Our deep learning model enabled accurate segmentation of kidneys and liver and objective assessment of TKV and TLV. Importantly, this approach was validated with axial and coronal MRI scans from 40 di...
Total kidney volume (TKV) is an important imaging biomarker in autosomal dominant polycystic kidney disease (ADPKD). Manual computation of TKV, particularly with the exclusion of exophytic cysts, is l...
We developed a fully automated segmentation method for TKV using a deep learning network to selectively segment kidney regions while excluding exophytic cysts. We used abdominal...
The automated and manual reference methods exhibited excellent geometric concordance (Dice similarity coefficient: mean±SD, 0.962±0.018) on the test datasets, with kidney volumes ranging from 178.9 to...
We developed a fully automated segmentation method to measure TKV that excludes exophytic cysts and has an accuracy similar to that of a human expert. This technique may be useful in clinical studies ...
Autosomal-dominant polycystic kidney disease (ADPKD) is the most prevalent hereditary kidney disease and the fourth leading cause of end-stage renal disease (ESRD) requiring renal replacement therapy ...
We identified 6,142 patients with ADPKD aged ≥ 20 years from 2000 to 2015 using a nationwide population-based database. HTN, DM, and DLP diagnoses before or at the time of ADPKD diagnosis and differen...
Patients with ADPKD who developed ESRD had the higher all-cause mortality (HR, 5.14; [95% CI: 3.88-6.80]). Patients with all three of the diseases had a significantly higher risk of entering ESRD (HR:...
Our study discovered the cumulative effect of HTN, DM, and DLP on the risk of developing ESRD, which reinforces the urgency of proactive prevention of cardiometabolic comorbidities to improve renal ou...
Autosomal dominant polycystic kidney disease (ADPKD) is the most commonly inherited kidney disease. In the absence of targeted therapies, it invariably progresses to advanced chronic kidney disease. T...
We herein report a case of enterocutaneous fistula in a patient with autosomal dominant polycystic kidney disease (ADPKD). A 37-year-old Japanese man was admitted to our hospital. Three months prior t...
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease, and it leads to end-stage renal disease (ESRD). The clinical manifestations of ADPKD are variable, with ...
In selected ADPKD patients, a nephrectomy is required in the work-up for a kidney transplantation. Because the impact of this procedure is unknown, we investigated the effect of pre-transplantation ne...
In this retrospective cohort study all ADPKD patients, ≥ 18 years, who received a kidney transplantation in 2 ADPKD expertise centers between January 2000 and January 2016, were asked to participate. ...
Two hundred seventy-six ADPKD patients (53 ± 9 years, 56.2% male) were included. 98 patients (35.5%) underwent native nephrectomy in preparation for transplantation, of which 43 underwent bilateral ne...
This study shows that pre-transplantation nephrectomy improves quality of life in selected ADPKD patients. Bilateral nephrectomy may be preferred, although the risk of additional complications should ...
Sickle cell disease (SCD) and autosomal dominant polycystic kidney disease (ADPKD) are relatively common genetic conditions with considerable overlap in clinical presentation. In addition to similarit...
A 16-year-old Black male with SCD had bilateral kidney enlargement and multiple simple cysts on ultrasound. Although kidney cysts are significantly more common in individuals affected with SCD, geneti...
SCD and ADPKD differ in pathophysiological mechanisms and treatment regimens. As such, it will be paramount for this teenager to be closely monitored for signs of diminished kidney function and to be ...