Titre : Syndrome de Denys-Drash

Syndrome de Denys-Drash : Questions médicales fréquentes

Termes MeSH sélectionnés :

Multifactorial Inheritance
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indiquent ce syndrome ?\nLes échographies sont-elles utiles ?\nLe syndrome est-il héréditaire ?", "url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Multifactorial+Inheritance&page=2#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Syndrome de Denys-Drash", "description": "Quels sont les symptômes principaux ?\nY a-t-il des signes de dysfonctionnement hormonal ?\nLes enfants sont-ils affectés dès la naissance ?\nLe syndrome affecte-t-il la croissance ?\nY a-t-il des symptômes psychologiques associés ?", "url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Multifactorial+Inheritance&page=2#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Syndrome de Denys-Drash", "description": "Peut-on prévenir le syndrome de Denys-Drash ?\nComment le conseil génétique aide-t-il ?\nLes tests prénataux sont-ils possibles ?\nLes parents doivent-ils être testés ?\nY a-t-il des recommandations pour les familles ?", "url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Multifactorial+Inheritance&page=2#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Syndrome de Denys-Drash", "description": "Quel est le traitement principal pour l'insuffisance rénale ?\nDes traitements hormonaux sont-ils nécessaires ?\nComment gérer les tumeurs associées ?\nY a-t-il des soins de soutien disponibles ?\nLe suivi médical est-il important ?", "url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Multifactorial+Inheritance&page=2#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Syndrome de Denys-Drash", "description": "Quelles sont les complications possibles ?\nLe syndrome augmente-t-il le risque de cancer ?\nDes complications psychologiques peuvent-elles survenir ?\nComment les complications sont-elles gérées ?\nLes complications affectent-elles la qualité de vie ?", "url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Multifactorial+Inheritance&page=2#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Syndrome de Denys-Drash", "description": "Quels sont les facteurs de risque connus ?\nLe sexe influence-t-il le risque ?\nLes facteurs environnementaux jouent-ils un rôle ?\nLes mutations génétiques sont-elles héréditaires ?\nY a-t-il des tests pour évaluer le risque ?", "url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Multifactorial+Inheritance&page=2#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostique-t-on le syndrome de Denys-Drash ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur l'examen clinique, l'analyse génétique et l'imagerie rénale." } }, { "@type": "Question", "name": "Quels tests génétiques sont utilisés ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests pour identifier des mutations dans le gène WT1 sont effectués." } }, { "@type": "Question", "name": "Quels signes cliniques indiquent ce syndrome ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Les signes incluent des malformations rénales, des anomalies génitales et des troubles de croissance." } }, { "@type": "Question", "name": "Les échographies sont-elles utiles ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les échographies rénales aident à détecter les anomalies structurelles." } }, { "@type": "Question", "name": "Le syndrome est-il héréditaire ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il est généralement hérité de manière autosomique dominante." } }, { "@type": "Question", "name": "Quels sont les symptômes principaux ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent l'insuffisance rénale, des anomalies génitales et des tumeurs." } }, { "@type": "Question", "name": "Y a-t-il des signes de dysfonctionnement hormonal ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des signes de dysfonctionnement hormonal peuvent apparaître, affectant la puberté." } }, { "@type": "Question", "name": "Les enfants sont-ils affectés dès la naissance ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes peuvent apparaître à la naissance ou se développer durant l'enfance." } }, { "@type": "Question", "name": "Le syndrome affecte-t-il la croissance ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des retards de croissance peuvent être observés chez les enfants atteints." } }, { "@type": "Question", "name": "Y a-t-il des symptômes psychologiques associés ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Des problèmes psychologiques peuvent survenir, liés à l'adaptation à la maladie." } }, { "@type": "Question", "name": "Peut-on prévenir le syndrome de Denys-Drash ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de prévention, mais un conseil génétique peut aider les familles à risque." } }, { "@type": "Question", "name": "Comment le conseil génétique aide-t-il ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Il informe les familles sur les risques de transmission et les options disponibles." } }, { "@type": "Question", "name": "Les tests prénataux sont-ils possibles ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des tests prénataux peuvent détecter des anomalies génétiques chez le fœtus." } }, { "@type": "Question", "name": "Les parents doivent-ils être testés ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le dépistage des parents peut identifier des porteurs de mutations génétiques." } }, { "@type": "Question", "name": "Y a-t-il des recommandations pour les familles ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Les familles doivent être informées des signes précoces et des soins médicaux nécessaires." } }, { "@type": "Question", "name": "Quel est le traitement principal pour l'insuffisance rénale ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "La dialyse ou la transplantation rénale est souvent nécessaire pour l'insuffisance rénale." } }, { "@type": "Question", "name": "Des traitements hormonaux sont-ils nécessaires ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des traitements hormonaux peuvent être requis pour corriger les anomalies sexuelles." } }, { "@type": "Question", "name": "Comment gérer les tumeurs associées ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Les tumeurs peuvent nécessiter une chirurgie, une chimiothérapie ou une radiothérapie." } }, { "@type": "Question", "name": "Y a-t-il des soins de soutien disponibles ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des soins de soutien psychologique et éducatif sont souvent recommandés." } }, { "@type": "Question", "name": "Le suivi médical est-il important ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un suivi régulier est crucial pour surveiller l'évolution de la maladie." } }, { "@type": "Question", "name": "Quelles sont les complications possibles ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent l'insuffisance rénale terminale et les cancers associés." } }, { "@type": "Question", "name": "Le syndrome augmente-t-il le risque de cancer ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les patients ont un risque accru de développer des tumeurs, notamment rénales." } }, { "@type": "Question", "name": "Des complications psychologiques peuvent-elles survenir ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des complications psychologiques comme l'anxiété et la dépression sont possibles." } }, { "@type": "Question", "name": "Comment les complications sont-elles gérées ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Les complications nécessitent une approche multidisciplinaire incluant divers spécialistes." } }, { "@type": "Question", "name": "Les complications affectent-elles la qualité de vie ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les complications peuvent significativement impacter la qualité de vie des patients." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque connus ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent des antécédents familiaux de syndrome et des mutations génétiques." } }, { "@type": "Question", "name": "Le sexe influence-t-il le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le syndrome est plus fréquent chez les garçons en raison des anomalies sexuelles." } }, { "@type": "Question", "name": "Les facteurs environnementaux jouent-ils un rôle ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, il n'y a pas de preuves solides liant des facteurs environnementaux au syndrome." } }, { "@type": "Question", "name": "Les mutations génétiques sont-elles héréditaires ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les mutations dans le gène WT1 sont souvent héritées de manière autosomique dominante." } }, { "@type": "Question", "name": "Y a-t-il des tests pour évaluer le risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Des tests génétiques peuvent évaluer le risque pour les membres de la famille." } } ] } ] }

Sources (2080 au total)

Associations of polygenic inheritance of physical activity with aerobic fitness, cardiometabolic risk factors and diseases: the HUNT study.

Physical activity (PA), aerobic fitness, and cardiometabolic diseases (CMD) are highly heritable multifactorial phenotypes. Shared genetic factors may underlie the associations between higher levels o...

Multifactorial resistance of

Surface-associated contamination by endospore-forming bacteria poses a major challenge in sterilization, since the omnipresence of these highly resistant spores throughout nature makes contamination u...

Multifactorial chylomicronemia syndrome.

The aim of this review was to understand the role of multifactorial chylomicronemia syndrome (MFCS) as a cause of severe hypertriglyceridemia; to distinguish it from other causes of severe hypertrigly... There have been advances in understanding the genetic underpinning of MFCS, and a better appreciation as to how to differentiate it from the much rarer familial chylomicronemia syndrome, in which ther... MCSF is a condition in which plasma triglyceride levels are severely elevated, usually to due exacerbation of common genetic forms of hypertriglyceridemia by secondary causes of hypertriglyceridemia a...

Cage subsidence-A multifactorial matter!

Retrospective cohort study OBJECTIVE: Wider cages are associated with improved decompression and reduced subsidence, but variation in cage physical properties limits consistent outcome analysis after ... This study retrospectively reviewed 194 patients who underwent interbody fusion between 2016 and 2019 with a primary outcome of cage subsidence. Secondary outcomes were cage distribution (patients, ap... Medical records were reviewed for 194 patients receiving 387 cages at 379 disc levels. Subsidence was identified in 35.1% of lateral cages, 40.9% of posterior cages, and 36.3% of all cages. Lower surf... Cage subsidence is a common complication that can significantly impact operative outcomes following thoracolumbar interbody fusion. Low t‑scores, smaller surface area, cage expandability, and lower ca...

Inherited

Purine-rich element-binding protein alpha (PURA) regulates gene expression and is ubiquitously expressed with an enrichment in neural tissues. Pathogenic variants in... We used genome sequencing to identify a pathogenic gene variant as part of a study of children ascertained for severe primary speech disorder in the absence of moderate or severe ID.... The novel... This is the first inherited...