Syndrome de Denys-Drash : Questions médicales fréquentes
Nom anglais: Denys-Drash Syndrome
Descriptor UI:D030321
Tree Number:C19.391.119.096.562
Termes MeSH sélectionnés :
Histocompatibility Antigens Class II
{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "Syndrome de Denys-Drash : Questions médicales les plus fréquentes",
"headline": "Syndrome de Denys-Drash : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les Syndrome de Denys-Drash : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-04-15",
"dateModified": "2025-04-10",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "Syndrome de Denys-Drash"
},
"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": "Troubles du développement sexuel de sujets 46, XY",
"url": "https://questionsmedicales.fr/mesh/D058490",
"about": {
"@type": "MedicalCondition",
"name": "Troubles du développement sexuel de sujets 46, XY",
"code": {
"@type": "MedicalCode",
"code": "D058490",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C19.391.119.096"
}
}
},
"about": {
"@type": "MedicalCondition",
"name": "Syndrome de Denys-Drash",
"alternateName": "Denys-Drash Syndrome",
"code": {
"@type": "MedicalCode",
"code": "D030321",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Kentaro Nishi",
"url": "https://questionsmedicales.fr/author/Kentaro%20Nishi",
"affiliation": {
"@type": "Organization",
"name": "Division of Nephrology and Rheumatology, National Center for Child Health and Development."
}
},
{
"@type": "Person",
"name": "Koichi Kamei",
"url": "https://questionsmedicales.fr/author/Koichi%20Kamei",
"affiliation": {
"@type": "Organization",
"name": "Division of Nephrology and Rheumatology, National Center for Child Health and Development."
}
},
{
"@type": "Person",
"name": "Masao Ogura",
"url": "https://questionsmedicales.fr/author/Masao%20Ogura",
"affiliation": {
"@type": "Organization",
"name": "Division of Nephrology and Rheumatology, National Center for Child Health and Development."
}
},
{
"@type": "Person",
"name": "Mai Sato",
"url": "https://questionsmedicales.fr/author/Mai%20Sato",
"affiliation": {
"@type": "Organization",
"name": "Division of Nephrology and Rheumatology, National Center for Child Health and Development."
}
},
{
"@type": "Person",
"name": "Kandai Nozu",
"url": "https://questionsmedicales.fr/author/Kandai%20Nozu",
"affiliation": {
"@type": "Organization",
"name": "Department of Pediatrics, Kobe University Graduate School of Medicine."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "Endo-lysosomal assembly variations among human leukocyte antigen class I (HLA class I) allotypes.",
"datePublished": "2023-02-01",
"url": "https://questionsmedicales.fr/article/36722462",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.7554/eLife.79144"
}
},
{
"@type": "ScholarlyArticle",
"name": "The Search of Association of HLA Class I and Class II Alleles with COVID-19 Mortality in the Russian Cohort.",
"datePublished": "2023-02-04",
"url": "https://questionsmedicales.fr/article/36834479",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3390/ijms24043068"
}
},
{
"@type": "ScholarlyArticle",
"name": "Peptide Modification Diminishes HLA Class II-restricted CD4",
"datePublished": "2022-12-03",
"url": "https://questionsmedicales.fr/article/36499557",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3390/ijms232315234"
}
},
{
"@type": "ScholarlyArticle",
"name": "Identification of IL-27 as a novel regulator of major histocompatibility complex class I and class II expression, antigen presentation, and processing in intestinal epithelial cells.",
"datePublished": "2023-09-25",
"url": "https://questionsmedicales.fr/article/37818353",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3389/fimmu.2023.1226809"
}
},
{
"@type": "ScholarlyArticle",
"name": "Possible impact of HLA class I and class II on malignancies driven by a single germ-line BRCA1 mutation.",
"datePublished": "2023-07-28",
"url": "https://questionsmedicales.fr/article/37505908",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1111/iji.12631"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Maladies endocriniennes",
"item": "https://questionsmedicales.fr/mesh/D004700"
},
{
"@type": "ListItem",
"position": 3,
"name": "Troubles gonadiques",
"item": "https://questionsmedicales.fr/mesh/D006058"
},
{
"@type": "ListItem",
"position": 4,
"name": "Troubles du développement sexuel",
"item": "https://questionsmedicales.fr/mesh/D012734"
},
{
"@type": "ListItem",
"position": 5,
"name": "Troubles du développement sexuel de sujets 46, XY",
"item": "https://questionsmedicales.fr/mesh/D058490"
},
{
"@type": "ListItem",
"position": 6,
"name": "Syndrome de Denys-Drash",
"item": "https://questionsmedicales.fr/mesh/D030321"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : Syndrome de Denys-Drash - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Syndrome de Denys-Drash",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-05-02",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Syndrome de Denys-Drash",
"description": "Comment diagnostique-t-on le syndrome de Denys-Drash ?\nQuels tests génétiques sont utilisés ?\nQuels signes cliniques indiquent ce syndrome ?\nLes échographies sont-elles utiles ?\nLe syndrome est-il héréditaire ?",
"url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Histocompatibility+Antigens+Class+II&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=Histocompatibility+Antigens+Class+II&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=Histocompatibility+Antigens+Class+II&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=Histocompatibility+Antigens+Class+II&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=Histocompatibility+Antigens+Class+II&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=Histocompatibility+Antigens+Class+II&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."
}
}
]
}
]
}
The extreme polymorphisms of human leukocyte antigen class I (HLA class I) proteins enable the presentation of diverse peptides to cytotoxic T lymphocytes. The canonical endoplasmic reticulum (ER) HLA...
HLA genes play a pivotal role in the immune response via presenting the pathogen peptides on the cell surface in a host organism. Here, we studied the association of HLA allele variants of class I (lo...
Prostate cancer poses an ongoing problem in the western world accounting for significant morbidity and mortality in the male population. Current therapy options are effective in treating most prostate...
Antigen presentation via major histocompatibility complex (MHC) class I and class II receptors plays a fundamental role in T cell-mediated adaptive immunity. A dysregulation of this fine-tuned recogni...
This study provides the first immunogenetic preliminary evidence that specific human leucocyte antigen (HLA) class I and class II alleles and haplotypes may be relevant for BRCA1 c.5263_5264insC drive...
Gram-negative bacillary bacteremia poses a significant threat, ranking among the most severe infectious diseases capable of triggering life-threatening sepsis. Despite the unambiguous involvement of n...
By using an unbiased proteomics and flow cytometry approach, we identified an antigen-presenting cell (APC)-like phenotype in human peripheral blood neutrophils (PMN) with MHC class II molecule expres...
GM-CSF stimulation of neutrophils leads to the activation of three major signaling pathways, the JAK-STAT, the mitogen-activated protein kinase (MAPK), and the phosphoinositide 3-kinase (PI3K)-Akt-mTO...
This study provides new insights into the signaling pathways that induce MHC class II expression in neutrophils, highlighting the potential for therapeutic targeting of JAK1/2 signaling in the treatme...
Disruption of antigen presentation via loss of major histocompatibility complex (MHC) expression is a strategy whereby cancer cells escape immune surveillance and develop resistance to immunotherapy. ...
The expression of MHC-II and CD86 on the surface of antigen-presenting cells (APCs) must be tightly regulated to foster antigen-specific CD4 T-cell activation and to prevent autoimmunity. Surface expr...
Postoperative immunosuppression has been recognized as an important driver of surgery-related morbidity and mortality. It is characterized by lymphocyte depression and impaired monocyte capability to ...
In non-immunocompromised patients undergoing elective major abdominal surgery, a postoperative loss of monocyte HLA-DR surface receptor density was accompanied by a decline in the transcription levels...
In circulating monocytes, major surgery does not globally affect MHC-II transcription but rather induces specific changes in the expression of selected HLA genes, followed by differential recovery pat...
Type 1 diabetes is an autoimmune disease with an significant genetic component, played mainly by the...
This study included 115 children and young adults with type 1 diabetes for whom typing of...
We observed that 13% of type 1 diabetes subjects had non-classical...
This study reveals a broader involvement of the...