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Maladies métaboliques et nutritionnelles
Maladies métaboliques
Erreurs innées du métabolisme
Erreurs innées du métabolisme lipidique
Erreurs innées du métabolisme lipidique : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Erreurs innées du métabolisme
Lipidémie
Tests génétiques
Dépistage néonatal
Analyse d'urine
Tests enzymatiques
Symptômes
Diagnostic médical
Erreurs innées du métabolisme
Antécédents familiaux
Génétique
Erreurs innées du métabolisme
Imagerie médicale
Évaluation des organes
Diagnostic médical
Symptômes
5
Symptômes
Troubles neurologiques
Retard de croissance
Erreurs innées du métabolisme
Variabilité des symptômes
Lipidémie
Dépôts lipidiques
Symptômes cutanés
Erreurs innées du métabolisme
Symptômes néonatals
Développement
Erreurs innées du métabolisme
Troubles mentaux
Cognition
Erreurs innées du métabolisme
Prévention
5
Prévention
Dépistage néonatal
Erreurs innées du métabolisme
Conseil génétique
Risques héréditaires
Erreurs innées du métabolisme
Vaccination
Prévention des maladies
Erreurs innées du métabolisme
Tests prénataux
Dépistage génétique
Erreurs innées du métabolisme
Éducation des parents
Détection précoce
Erreurs innées du métabolisme
Traitements
5
Traitement médical
Régime alimentaire
Suppléments nutritionnels
Diététique
Gestion des lipides
Prévention des complications
Médicaments
Traitement symptomatique
Lipidémie
Thérapie génique
Recherche médicale
Erreurs innées du métabolisme
Greffe d'organe
Traitement des complications
Erreurs innées du métabolisme
Complications
5
Complications
Maladies hépatiques
Troubles neurologiques
Complications graves
Mortalité
Erreurs innées du métabolisme
Risque de cancer
Complications
Erreurs innées du métabolisme
Troubles psychologiques
Complications
Erreurs innées du métabolisme
Complications réversibles
Gestion des symptômes
Erreurs innées du métabolisme
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Erreurs innées du métabolisme
Origine ethnique
Prédisposition génétique
Erreurs innées du métabolisme
Alimentation
Facteurs de risque
Erreurs innées du métabolisme
Infections
Aggravation des symptômes
Erreurs innées du métabolisme
Facteurs de risque
Prévalence
Erreurs innées du métabolisme
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"headline": "Traitements sur Erreurs innées du métabolisme lipidique",
"description": "Quels traitements sont disponibles ?\nLa diététique joue-t-elle un rôle ?\nDes médicaments sont-ils utilisés ?\nLa thérapie génique est-elle une option ?\nLes greffes d'organes sont-elles nécessaires ?",
"url": "https://questionsmedicales.fr/mesh/D008052?mesh_terms=Docetaxel#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Erreurs innées du métabolisme lipidique",
"description": "Quelles complications peuvent survenir ?\nLes erreurs lipidique peuvent-elles être mortelles ?\nY a-t-il des risques de cancer ?\nLes troubles psychologiques sont-ils fréquents ?\nLes complications sont-elles réversibles ?",
"url": "https://questionsmedicales.fr/mesh/D008052?mesh_terms=Docetaxel#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Erreurs innées du métabolisme lipidique",
"description": "Quels sont les facteurs de risque génétiques ?\nL'origine ethnique influence-t-elle le risque ?\nL'alimentation joue-t-elle un rôle ?\nLes infections peuvent-elles aggraver la condition ?\nLe sexe influence-t-il le risque ?",
"url": "https://questionsmedicales.fr/mesh/D008052?mesh_terms=Docetaxel#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment diagnostique-t-on une erreur métabolique lipidique ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic repose sur des tests sanguins, des analyses génétiques et des biopsies."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour le diagnostic ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests de dépistage néonatal, des dosages enzymatiques et des analyses d'urine sont courants."
}
},
{
"@type": "Question",
"name": "Les symptômes aident-ils au diagnostic ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes cliniques orientent le diagnostic et peuvent indiquer le type d'erreur."
}
},
{
"@type": "Question",
"name": "Quelle est l'importance de l'histoire familiale ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'histoire familiale aide à identifier les risques génétiques et à orienter les tests."
}
},
{
"@type": "Question",
"name": "Peut-on utiliser l'imagerie pour le diagnostic ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'imagerie peut aider à évaluer les organes affectés, mais n'est pas spécifique."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes courants ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent fatigue, douleurs abdominales, troubles neurologiques et retard de croissance."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon le type d'erreur ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, chaque type d'erreur lipidique présente des symptômes spécifiques et variés."
}
},
{
"@type": "Question",
"name": "Y a-t-il des signes cutanés associés ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines erreurs peuvent provoquer des dépôts lipidiques visibles sur la peau."
}
},
{
"@type": "Question",
"name": "Les symptômes apparaissent-ils à la naissance ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains symptômes peuvent apparaître dès la naissance, d'autres se développent plus tard."
}
},
{
"@type": "Question",
"name": "Les troubles mentaux sont-ils possibles ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles cognitifs et comportementaux peuvent survenir dans certaines erreurs."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir ces erreurs ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est limitée, mais le dépistage néonatal peut aider à identifier les cas précoces."
}
},
{
"@type": "Question",
"name": "Le conseil génétique est-il utile ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le conseil génétique aide les familles à comprendre les risques et les options de dépistage."
}
},
{
"@type": "Question",
"name": "Les vaccinations sont-elles importantes ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les vaccinations ne préviennent pas les erreurs métaboliques, mais protègent contre d'autres maladies."
}
},
{
"@type": "Question",
"name": "Les tests prénataux sont-ils recommandés ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests prénataux peuvent être proposés pour détecter certaines erreurs génétiques."
}
},
{
"@type": "Question",
"name": "L'éducation des parents est-elle cruciale ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, informer les parents sur les signes et symptômes peut aider à une détection précoce."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent des régimes alimentaires spécifiques, des suppléments et des médicaments."
}
},
{
"@type": "Question",
"name": "La diététique joue-t-elle un rôle ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un régime adapté est crucial pour gérer les niveaux de lipides et prévenir les complications."
}
},
{
"@type": "Question",
"name": "Des médicaments sont-ils utilisés ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des médicaments peuvent être prescrits pour réduire les niveaux de lipides ou traiter les symptômes."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique est en recherche pour certaines erreurs, mais n'est pas encore courante."
}
},
{
"@type": "Question",
"name": "Les greffes d'organes sont-elles nécessaires ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Dans certains cas graves, des greffes peuvent être envisagées pour traiter des dommages organiques."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des maladies hépatiques, des troubles neurologiques et des problèmes cardiaques."
}
},
{
"@type": "Question",
"name": "Les erreurs lipidique peuvent-elles être mortelles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines erreurs peuvent entraîner des complications graves pouvant être fatales sans traitement."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de cancer ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines erreurs peuvent augmenter le risque de développer certains types de cancer."
}
},
{
"@type": "Question",
"name": "Les troubles psychologiques sont-ils fréquents ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles psychologiques peuvent survenir en raison de l'impact des symptômes."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes sans traitement."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque génétiques ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux d'erreurs métaboliques augmentent le risque de transmission."
}
},
{
"@type": "Question",
"name": "L'origine ethnique influence-t-elle le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines erreurs sont plus fréquentes dans des populations spécifiques en raison de la génétique."
}
},
{
"@type": "Question",
"name": "L'alimentation joue-t-elle un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation déséquilibrée peut exacerber les symptômes chez les individus prédisposés."
}
},
{
"@type": "Question",
"name": "Les infections peuvent-elles aggraver la condition ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines infections peuvent déclencher ou aggraver les symptômes des erreurs métaboliques."
}
},
{
"@type": "Question",
"name": "Le sexe influence-t-il le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines erreurs métaboliques peuvent avoir une prévalence différente selon le sexe."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 07/05/2025
Contenu vérifié selon les dernières recommandations médicales
2 publications dans cette catégorie
Affiliations :
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Rare Disease Institute, Children's National Health System, Washington, DC, United States.
Publications dans "Erreurs innées du métabolisme lipidique" :
2 publications dans cette catégorie
Affiliations :
Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada. Electronic address: c.d.vankarnebeek@amstedarmumc.nl.
Publications dans "Erreurs innées du métabolisme lipidique" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, University of Pittsburgh School of Medicine, Department of Human Genetics, Graduate School of Public Health, Pittsburgh, Pennsylvania, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, Children's National, Washington, DC 20010, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
2 publications dans cette catégorie
Affiliations :
Department of Biochemistry, Shifa College of Medicine, Shifa Tameer-e-millat university, H-8/4, Islamabad, Pakistan. dr.sumreena@gmail.com.
Publications dans "Erreurs innées du métabolisme lipidique" :
2 publications dans cette catégorie
Affiliations :
School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.
Publications dans "Erreurs innées du métabolisme lipidique" :
2 publications dans cette catégorie
Affiliations :
Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, University of Santiago de Compostela, CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.
Publications dans "Erreurs innées du métabolisme lipidique" :
2 publications dans cette catégorie
Affiliations :
Division of Allergy and Clinical Immunology, Department of Medicine, Harvard Medical School, Brigham and Women's Hospital, 60 Fenwood Road, BTM/Hale Building, 5th Floor, Boston, MA 02115, USA. Electronic address: cbaloh@bwh.harvard.edu.
Publications dans "Erreurs innées du métabolisme lipidique" :
2 publications dans cette catégorie
Affiliations :
Division of Allergy and Immunology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, 4401 Penn Avenue, AOB 3300, Pittsburgh, PA 15224, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Program in Chemical Biology and Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR 97206, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Program in Chemical Biology and Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR 97206, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Program in Chemical Biology and Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR 97206, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Program in Chemical Biology and Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR 97206, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Program in Chemical Biology and Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR 97206, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Program in Chemical Biology and Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR 97206, USA. Electronic address: scanlant@ohsu.edu.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA; Department of Pediatrics, Emory University School of Medicine & Children's Healthcare of Atlanta, Atlanta, Georgia, USA. Electronic address: kferrie@emory.edu.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Department of Gynecology and Obstetrics, Division of Maternal-Fetal Medicine, Emory University School of Medicine, Atlanta, Georgia, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA; Department of Pediatrics, Emory University School of Medicine & Children's Healthcare of Atlanta, Atlanta, Georgia, USA.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh 11525, Saudi Arabia. malmannai@kfmc.med.sa.
Publications dans "Erreurs innées du métabolisme lipidique" :
1 publication dans cette catégorie
Affiliations :
Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh 11426, Saudi Arabia. dralfadhelm@gmail.com.
King Abdullah International Medical Research Center (KAIMRC), Riyadh 11426, Saudi Arabia. dralfadhelm@gmail.com.
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh 11426, Saudi Arabia. dralfadhelm@gmail.com.
Publications dans "Erreurs innées du métabolisme lipidique" :
There are several interactions within the tumor microenvironment (TME) that affect the response of cancer cells to therapy. There are also a large number of cells and secretions in TME that increase r...
Pegfilgrastim is recommended in docetaxel plus ramucirumab (DTX + RAM) therapy for recurrent nonsmall cell lung cancer (NSCLC) because of the associated frequency of febrile neutropenia (FN). However,...
Twenty-two patients with recurrent NSCLC who received DTX + RAM therapy at the Hiroshima Prefectural Hospital. The cut-off value which is the most unlikely to cause FN without the combined use of pegf...
Pegfilgrastim can be discontinued when the dose of DTX is reduced to <48 mg/m...
Posterior reversible encephalopathy syndrome is a clinical and imaging syndrome characterized by endothelial dysfunction, blood-brain barrier disruption, and vasogenic edema. The common clinical sympt...
We describe the case of a middle-aged woman with gastric cancer. She was under treatment by fluorouracil, leucovorin, oxaliplatin, and docetaxel regimen and thrombocytopenia regimen after tumor progre...
After admission, she was treated to control blood pressure, reduce brain edema, expand blood vessels, improve consciousness, and symptomatic support treatment. 3 days after the onset of the disease, h...
This is the first report that posterior reversible encephalopathy syndrome is caused by a thrombocytopenia regimen, and our case highlights the pathogenic role of a thrombocytopenia regimen in posteri...
Docetaxel-related adverse events (AEs) such as neutropenia and febrile neutropenia (FN) can be life-threatening. A previous in vivo study raised the hypothesis that the castration status affects the r...
We retrospectively analyzed the records of 265 mPCa patients treated with docetaxel, comprising 92 patients with metastatic hormone-sensitive prostate cancer (mHSPC) and 173 patients with metastatic c...
The rate of patients who received primary prophylaxis against neutropenia was higher in those with the mHSPC compared with those with the mCRPC (7.5% vs. 33%, p < 0.001). Among the patients without pr...
Castration status did not affect the risk of severe neutropenia or FN in mPCa patients treated with docetaxel regardless of the disease state. Failure to provide primary prophylaxis and advanced patie...
The mechanistic underpinnings of breast cancer recurrence following periods of dormancy are largely undetermined. A new study in PLOS Biology reveals that docetaxel-induced injury of tumour stromal ce...
We aimed to study the relation between pharmacokinetics (PK) and pharmacodynamics (PD) of docetaxel in early breast cancer and recommend a target exposure....
A PK/PD study was performed in 27 early breast cancer patients treated with doxorubicin and cyclophosphamide for 4 cycles followed by 4 cycles of docetaxel 75-100 mg/m...
Docetaxel clearance showed no change over the 4 treatment cycles, but a gradual increase in the volume of distribution was observed. One third of the patients had at least 1 dose reduction of docetaxe...
We report for the first time a relation between docetaxel exposure and toxicity and recommend specific targets of drug exposure with implications for the clinical management of early breast cancer pat...
Docetaxel is a cytotoxic taxane frequently used to treat patients with various cancers, including non-small cell lung cancer (NSCLC). Docetaxel is known to cause acute myalgias, arthralgias, and neuro...
A majority of prostate cancer cells are in a non-proliferating, G...
Publically available, anonymous, clinical data was obtained from cBioPortal for analysis. RNAi and prostate cancer cell lines were utilized to investigate SNHG1 in vitro. We measured G...
We discovered that in prostate cancer patients from The Cancer Genome Atlas (TCGA) data set, high SNHG1 expression in localized tumors correlated with reduced progression-free survival, and in a data ...
Overall, these results indicate SNHG1 has complex roles in prostate cancer, as it stimulates cell cycle entry and disease progression, but sensitizes cells to docetaxel treatment....
Docetaxel is commonly used for treatment of castration-resistant prostate cancer. Unfortunately, many prostate cancer patients develop resistance to docetaxel. Clinical markers less invasive than biop...
Drug-induced neutropenia is the main reason for the dose limitation of docetaxel in patients with breast cancer. The area under the drug concentration-time curve (AUC) of docetaxel is associated with ...
Docetaxel plasma concentration, demographics, clinical data, and related laboratory data were collected. PopPK analyses were performed using a nonlinear mixed-effect modelling program. The docetaxel A...
Among the 70 participants, 47 (67.1%) developed severe neutropenia. The PopPK analysis showed that the typical drug clearance (CL) rate was 37.4 L/h. Age was a significant covariate of CL rate, and as...
We developed a docetaxel PopPK model for patients with early-stage breast cancer. Age and AST and ALB levels were significant covariates. AUC estimated using the MAPB method can predict the toxicity o...
Chinese Clinical Trial Center Registry (ChiCTR2200056460)....