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Maladies endocriniennes
Troubles gonadiques
Troubles du développement sexuel
Troubles du développement sexuel de sujets 46, XY
Syndrome de Denys-Drash
Syndrome de Denys-Drash : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Syndrome de Denys-Drash
Diagnostic médical
Anomalies congénitales
Malformations rénales
Échographie
Anomalies rénales
Hérédité
Syndrome de Denys-Drash
Symptômes
5
Insuffisance rénale
Tumeurs
Dysfonction hormonale
Puberté
Nouveau-né
Développement infantile
Retard de croissance
Syndrome de Denys-Drash
Prévention
5
Prévention
Conseil génétique
Conseil génétique
Transmission héréditaire
Tests prénataux
Anomalies génétiques
Dépistage
Mutations génétiques
Éducation des patients
Soins médicaux
Traitements
5
Dialyse
Transplantation rénale
Traitement hormonal
Anomalies sexuelles
Soins de soutien
Psychologie
Suivi médical
Évolution de la maladie
Complications
5
Insuffisance rénale
Cancers
Risque de cancer
Tumeurs rénales
Complications psychologiques
Anxiété
Gestion des complications
Approche multidisciplinaire
Qualité de vie
Impact sur la santé
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Facteurs environnementaux
Syndrome de Denys-Drash
Mutations héréditaires
Gène WT1
Tests génétiques
Évaluation du risque
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{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés ?",
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"position": 3,
"acceptedAnswer": {
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"name": "Les échographies sont-elles utiles ?",
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"name": "Le syndrome est-il héréditaire ?",
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"name": "Quels sont les symptômes principaux ?",
"position": 6,
"acceptedAnswer": {
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"@type": "Question",
"name": "Y a-t-il des signes de dysfonctionnement hormonal ?",
"position": 7,
"acceptedAnswer": {
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"@type": "Question",
"name": "Les enfants sont-ils affectés dès la naissance ?",
"position": 8,
"acceptedAnswer": {
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}
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{
"@type": "Question",
"name": "Le syndrome affecte-t-il la croissance ?",
"position": 9,
"acceptedAnswer": {
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"text": "Oui, des retards de croissance peuvent être observés chez les enfants atteints."
}
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{
"@type": "Question",
"name": "Y a-t-il des symptômes psychologiques associés ?",
"position": 10,
"acceptedAnswer": {
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"text": "Des problèmes psychologiques peuvent survenir, liés à l'adaptation à la maladie."
}
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"@type": "Question",
"name": "Peut-on prévenir le syndrome de Denys-Drash ?",
"position": 11,
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"@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."
}
},
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"@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."
}
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"@type": "Question",
"name": "Y a-t-il des recommandations pour les familles ?",
"position": 15,
"acceptedAnswer": {
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"text": "Les familles doivent être informées des signes précoces et des soins médicaux nécessaires."
}
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"@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."
}
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{
"@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."
}
}
]
}
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}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 10/04/2025
Contenu vérifié selon les dernières recommandations médicales
2 publications dans cette catégorie
Affiliations :
Division of Nephrology and Rheumatology, National Center for Child Health and Development.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Division of Nephrology and Rheumatology, National Center for Child Health and Development.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Division of Nephrology and Rheumatology, National Center for Child Health and Development.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Division of Nephrology and Rheumatology, National Center for Child Health and Development.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Kobe University Graduate School of Medicine.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Kitasato University School of Medicine.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Yokohama City University Graduate School of Medicine.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Pediatric Nephrology, Hospital Universitario Vall d'Hebron, Passeig de la Vall d'Hebron, Barcelona, Spain.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Advancing New Standards in Reproductive Health, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California, San Francisco, Oakland, CA.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Department of Geomatics Engineering, University of Calgary, Calgary, AB T2N 1N4, Canada.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Department of Geomatics Engineering, University of Calgary, Calgary, AB T2N 1N4, Canada.
Department of Electrical and Computer Engineering, Port-Said University, Port-Said 42526, Egypt.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Department of Geomatics Engineering, University of Calgary, Calgary, AB T2N 1N4, Canada.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
College of Business, Government and Law, Flinders University, Adelaide, Australia.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Department of Psychology and Neuroscience, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
School of Behavioural and Health Sciences, Australian Catholic University, Melbourne, Victoria, Australia.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
School of Psychology, University of Queensland, Brisbane, Queensland, Australia.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
School of Psychological Sciences, University of Melbourne, Melbourne, Victoria, Australia.
Publications dans "Syndrome de Denys-Drash" :
1 publication dans cette catégorie
Affiliations :
Department of Pediatrics, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Publications dans "Syndrome de Denys-Drash" :
1 publication dans cette catégorie
Affiliations :
Department of Pediatrics, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Publications dans "Syndrome de Denys-Drash" :
1 publication dans cette catégorie
Affiliations :
Department of Pediatrics, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Publications dans "Syndrome de Denys-Drash" :
Background and Objectives: Migraines are one of the most common types of primary headaches in neurology. Many studies to date have investigated cognitive impairment in migraineurs, but the results are...
Post-operative cognitive dysfunction (POCD) is a concern for clinicians that often presents post-surgery where generalized anesthesia has been used. Its prevalence ranges from 36.6% in young adults to...
The reporting of our review was guided by the PRISMA statement and the 6-step evolutionary approach to concept analysis developed by Rodgers. Three databases, including Medline, CINAHL, and Web of Sci...
POCD was defined with varying severities ranging from subtle-to-extensive cognitive changes (1) affecting single or multiple cognitive domains that manifest following major surgery (2), is transient a...
This review resulted in a refined definition and comprehensive analysis of POCD that can be useful to both researchers and clinicians. Future research is needed to refine the operational definitions o...
Hypertension affects a significant proportion of the adult and aging population and represents an important risk factor for vascular cognitive impairment and late-life dementia. Chronic high blood pre...
Microvascular function in the brain and heart may play an important role in the course of patients with heart failure (HF), but its relationship with ventricular and cognitive function is not well und...
In healthy controls and symptomatic patients with HF (New York Heart Association functional class II or III), we used oxygenation-sensitive magnetic resonance imaging during a standardized breathing m...
Twenty patients with HF (age 64.4±8.3 years; 50% female sex), and 21 healthy controls (age 55.0±5.1 years; 62% female sex) were included in the analysis. In patients with HF, cerebral oxygenation rese...
Our results indicate that heart failure is an independent predictor of coronary and cerebral microvascular dysfunction as defined by a reduced response to a vasodilatory breathing maneuver. This impai...
The Montreal Cognitive Assessment (MoCA) was used to evaluate cognitive dysfunction after basal ganglia stroke, and factors affecting total MoCA score were examined....
Data were retrospectively analyzed for 30 patients with basal ganglia intracerebral hemorrhage or basal ganglia cerebral infarction, who were admitted to The Second Affiliated Hospital of Fujian Tradi...
Univariate linear regression showed that the total MoCA score was significantly associated with sex, age, executive function, naming, attention, abstract generalization ability, memory ability, and vi...
We showed that the MoCA test can be used for patients with basal ganglia stroke. The total MoCA score of basal ganglia stroke was significantly associated with impairments in executive function, namin...
The aim of this review is to summarize the current evidence on the relationship between sleep and cognition and present available data reporting the impact that sleep alterations may have on cognitive...
Research findings support the idea that sleep is involved in cognitive processes and that altered sleep homeostasis or circadian rhythms may lead to clinical and biochemical changes associated with co...
The coronavirus (COVID-19) pandemic is still evolving, causing hundreds of millions of infections around the world. The long-term sequelae of COVID-19 and neurologic syndromes post COVID remain poorly...
Recent evidence has shown that vestibular migraine is strongly associated with cognitive difficulties. However, limited data exist on real-world effects of that dysfunction. The objective of this stud...
Randomized, population-based survey study of US adults....
We generated a case definition approximating probable vestibular migraine based on Bárány Society criteria and validated that definition in a tertiary care vestibular clinic....
Adult respondents to the 2016 NHIS, which queries a representative sample of the civilian, noninstitutionalized US population....
Diagnostic....
We evaluated incidence of self-reported cognitive dysfunction with vestibular migraine and whether individuals were more likely to have impaired mobility, falls, and work absenteeism than those withou...
Among individuals with vestibular migraine, 40% reported "some" and 12% reported "a lot" of difficulty thinking versus 13% and 2% of those without vestibular migraine, respectively. Vestibular migrain...
Our findings indicate vestibular migraine is not only associated with cognitive dysfunction, but they are together associated with mobility issues, fall risk, and work absenteeism....
With the ageing of the population, the health problems of elderly individuals have become particularly important. Through a large number of clinical studies and trials, it has been confirmed that elde...
To characterize visuospatial and nonvisuospatial cognitive domains affected by vestibular loss and determine whether patient-reported outcomes measures (PROMs) correlate with performance on neuropsych...
Cross-sectional study....
University-based tertiary medical center....
Sixty-nine age-matched subjects: 25 patients with bilateral vestibular loss (BVL), 14 patients with unilateral vestibular loss (UVL), and 30 normal controls (NC)....
Neuropsychological tests used to assess visuospatial and auditory short-term and working memory, number magnitude representation, executive function, and attention. Validated PROMs used to evaluate qu...
Performance on neuropsychological tests and scores on PROM surveys....
BVL and UVL patients performed significantly worse than NC subjects on tasks requiring visuospatial representation compared with NC subjects ( p < 0.01). BVL patients demonstrated decreased performanc...
Patients with vestibular loss exhibit impairments in tasks requiring visuospatial representation but perform similarly to NC subjects in tasks of auditory working memory, executive function, or attent...