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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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"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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"name": "Les enfants sont-ils affectés dès la naissance ?",
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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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"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": {
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"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."
}
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{
"@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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}
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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" :
Patients with functional disorders (FD) often experience cognitive problems such as forgetfulness and distractibility alongside physical symptoms that cannot be attributed to a known somatic disease....
Test scores of cognitive tests and psychiatric rating scales of 100 outpatients diagnosed with a functional disorder were compared to a control group (n = 300) of patients with other diagnoses and to ...
Out of the 100 patients with functional disorders, 59 reported significant subjective cognitive symptoms. A moderate difference (d = 0.5-0.7) was found between the FD group mean and the population mea...
The findings of the study suggest that a decline in processing speed is a central feature in the cognitive profile of patients with functional disorders....
This article examines the role of uric acid (UA) in cognitive changes and neurodegeneration, focusing on its functions as an antioxidant and prooxidant. Research suggests that changes in serum UA leve...
Cognitive functioning in bipolar disorder is heterogeneous with evidence for multiple subgroups. However, cognitive subgroup change patterns over time remains unknown. While prior work suggests minima...
Participants diagnosed with bipolar disorder (I, II, NOS; n = 568) and unaffected controls (n = 234) completed baseline, one- and five-year neuropsychological assessments. Data reduction techniques we...
Results were consistent with bipolar disorder participants forming three subgroups with high (n = 209), mid (n = 259), and low (n = 100) cognition. These groups were associated with unique clinical ch...
These results demonstrate that cognition-based subgroups of bipolar disorder participants have minimal differences in their longitudinal course in relation to each other and with unaffected controls....
Recent research has proposed that certain aspects of psychosis, as experienced in, e.g., schizophrenia (SCZ), but also aspects of other cognitive conditions, such as autism spectrum disorders (ASD) an...
To conduct a systematic review to describe cognitive abilities in bipolar disorder (BD) in comparison to cognitive abilities in mild cognitive impairment (MCI) and dementia....
A literature search was performed with no year or language restrictions. The search yielded 1,461 articles, with 1,261 remaining after removal of duplicates, five of which were suitable for the system...
Analyses from our systematic review showed that euthymic individuals with BD present impairments in cognitive domains such as attention and executive functioning, motor skills, conceptual thinking, an...
Findings from our systematic review suggest that cognitive impairments in euthymic BD fall into a range between the impairments seen in MCI and those seen in dementia. More studies are needed to analy...
Cognitive deficits are prevalent in bipolar disorder even during the euthymic phase, having a negative impact on global functioning and quality of life. As such, more and more mental health profession...
The aim of this study was to assess the knowledge, attitudes and the rules of proceeding concerning primary health care (PHC) doctors in the field of screening diagnostics for cognitive disorders in e...
The study included 175 PHC doctors. A validated anonymous questionnaire was used. The survey was conducted using the PAPI (Paper and Pencil Interviews) and CAWI (Computer Assisted Web Interviews) meth...
The vast majority of the respondents (n=159; 91.4%) saw the advisability of screening for cognitive disorders in the age group >65 years of age, but only 53 subjects (30.29%) believed that these tests...
Polish GPs are aware of the necessity of screening for cognitive disorders in seniors. Currently, there are no mechanisms within primary health care system that would enable proper early screening for...
Functional cognitive disorders (FCDs) are a common cause of subjective and mild cognitive impairment. Isolated FCDs commonly present to the cognitive clinic, but examination of the nature of the sympt...
Cognitive impairment is a core feature of mood disorders and has been identified as an important treatment target. A better understanding of the factors contributing to cognitive impairment in mood di...
Studies in adult samples examining the relationship between objective cognitive function and reported childhood trauma in major depressive disorder and/or bipolar disorder (in-episode or euthymia) wer...
Seventeen studies met the criteria for inclusion (mood disorders N = 1723, healthy controls N = 797). Evidence for childhood trauma being related to poorer cognitive functioning was consistent across ...
Findings from this review suggest childhood trauma is associated with poorer cognitive functioning in people with mood disorders. Targeted interventions to improve cognition may be warranted for this ...
Extensive literature has explored the beneficial effects of music in age-related cognitive disorders (ACD), but limited knowledge exists regarding its impact on gene expression. We analyzed transcript...