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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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"text": "Le diagnostic repose sur l'examen clinique, l'analyse génétique et l'imagerie rénale."
}
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{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés ?",
"position": 2,
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"text": "Des tests pour identifier des mutations dans le gène WT1 sont effectués."
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},
{
"@type": "Question",
"name": "Quels signes cliniques indiquent ce syndrome ?",
"position": 3,
"acceptedAnswer": {
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"text": "Les signes incluent des malformations rénales, des anomalies génitales et des troubles de croissance."
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"name": "Les échographies sont-elles utiles ?",
"position": 4,
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"text": "Oui, les échographies rénales aident à détecter les anomalies structurelles."
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"@type": "Question",
"name": "Le syndrome est-il héréditaire ?",
"position": 5,
"acceptedAnswer": {
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"text": "Oui, il est généralement hérité de manière autosomique dominante."
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"@type": "Question",
"name": "Quels sont les symptômes principaux ?",
"position": 6,
"acceptedAnswer": {
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"text": "Les symptômes incluent l'insuffisance rénale, des anomalies génitales et des tumeurs."
}
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"@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."
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"@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."
}
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{
"@type": "Question",
"name": "Peut-on prévenir le syndrome de Denys-Drash ?",
"position": 11,
"acceptedAnswer": {
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"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": {
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"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."
}
}
]
}
]
}
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" :
to analyze the completeness of variables from Hospital-Based Cancer Registries of cases of prostate neoplasm in the Oncology Care Network of a Brazilian state between 2000 and 2020....
an ecological time series study, based on secondary data on prostate cancer Hospital-Based Cancer Registries prostate. Data incompleteness was classified as excellent (<5%), good (between 5%-10%), fai...
there were 13,519 cases of prostate cancer in the Hospital-Based Cancer Registries analyzed. The variables "family history of cancer" (p<0.001), "alcoholism" (p<0.001), "smoking" (p<0.001), "TNM stagi...
most Hospital-Based Cancer Registries variables showed excellent completeness, but important variables had high percentages of incompleteness, such as TNM and clinical staging, in addition to alcoholi...
18 F-DCFPyl is a Food and Drug Administration-approved radiotracer that targets prostate-specific membrane antigen and is used in the detection of recurrent or metastatic prostate cancer. As its use h...
We report the case of a 63-year-old male who came to the urology clinic with an increasing value of the prostate specific antigen and an asymmetrical enlargement at the digital rectal examination. The...
Biomarkers of DNA damage repair deficiency provide opportunities for personalized treatment with immunotherapy. However, there is limited research on the immune microenvironment of adeno-neuroendocrin...
A retrospective medical record review of 66 patients with prostate cancer (PCa) was performed. PCa samples from the 66 patients were analyzed using immunohistochemical staining for the detection of ch...
Twenty patients presented with adeno-NEPC, whereas 46 presented with adeno-PCa. The median age of patients at PCa diagnosis was 67.86 ± 7.05 years (68.65 ± 7.23 years, adeno-NEPC; 67.52 ± 7.02 years, ...
Our study revealed clinicopathological manifestations of adeno-NEPC and some possible predictive factors significantly associated with better outcomes in patients with adeno-NEPC. These findings might...
The purpose of the study was to evaluate the diagnostic significance of two new and a few clinical markers for prostate cancer (PCa) at various prostate volumes (PV)....
The study subjects were divided into two groups. Among them, there were 70 cases in the PV ≤30 ml group (benign prostatic hyperplasia [BPH]: 32 cases, PCa: 38 cases) and 372 cases in the PV > 30 ml gr...
In the PV ≤30 ml group, the diagnostic parameters based on prostate-specific antigen (PSA) had a decreased diagnostic significance for PCa. In the PV > 30 ml group, PSAD (AUC = 0.709), AVR (AVR = Age/...
Choosing appropriate indicators for different PVs could contribute to the early screening and diagnosis of PCa. The difference in the diagnostic value of two new indicators (A-PSAD and AVR), and PSAD ...
The optimal treatment of metastatic castration-resistant prostate cancer (mCRPC) continues to be challenging, given the multitude of life prolonging treatment options. Radionuclide therapy delivers co...
This study aims to compare the ability of the PHI versus tPSA test to predict the presence of PCa in our population....
A prospective observational study was performed. We included patients with tPSA ≥ 2.5 ng/ml, biopsy naïve or previous negative biopsy, undergoing a blood test, which includes tPSA, fPSA, and p2PSA, an...
140 men were included. Fifty-seven (40.7%) had a positive prostate biopsy result (Group A), and 83 (59.3%) had a negative biopsy result (Group B). The mean age was similar in both groups (mean ± stand...
The PHI test improves PCa detection compared to tPSA in our population....
Holmium laser enucleation of the prostate (HoLEP) is a size-independent surgical option for treating benign prostatic hyperplasia (BPH) and lower urinary tract symptoms (LUTS) with excellent, durable ...
Noninvasive methods for the early identify diagnosis of prostatitis, benign prostatic hyperplasia (BPH), and prostate cancer (PCa) are current clinical challenges....
The serum metabolites of 20 healthy individuals and patients with prostatitis, BPH, or PCa were identified using untargeted liquid chromatography-mass spectrometry (LC-MS). In addition, targeted LC-MS...
Organic acid metabolites had good sensitivity and specificity in differentiating prostatitis, BPH, and PCa. Three diagnostic models identified patients with PROSTATITIS: phenyllactic acid (area under ...
We compare Prostate Health Index, Prostate Health Index density, and PSA density in predicting clinically significant prostate cancer in MRI-guided prostate biopsy....
This is a multicenter evaluation of prospectively maintained prostate biopsy databases at 10 urology centers. Men with Prostate Health Index and MRI-guided targeted and systematic prostate biopsy perf...
A total of 1,215 men were analyzed. Prostate cancer and clinically significant prostate cancer were diagnosed in 51% (617/1,215) and 35% (422/1,215) of men, respectively. Clinically significant prosta...
Prostate Health Index density outperformed Prostate Health Index or PSA density in clinically significant prostate cancer detection in men with multiparametric MRI performed, and further reduced unnec...