Titre : Syndrome de Kearns-Sayre

Syndrome de Kearns-Sayre : Questions médicales fréquentes

{ "@context": "https://schema.org", "@graph": [ { "@type": "MedicalWebPage", "name": "Syndrome de Kearns-Sayre : Questions médicales les plus fréquentes", "headline": "Syndrome de Kearns-Sayre : Comprendre les symptômes, diagnostics et traitements", "description": "Guide complet et accessible sur les Syndrome de Kearns-Sayre : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.", "datePublished": "2024-02-22", "dateModified": "2025-02-16", "inLanguage": "fr", "medicalAudience": [ { "@type": "MedicalAudience", "name": "Grand public", "audienceType": "Patient", "healthCondition": { "@type": "MedicalCondition", "name": "Syndrome de Kearns-Sayre" }, "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": "Ophtalmoplégie externe progressive", "url": "https://questionsmedicales.fr/mesh/D017246", "about": { "@type": "MedicalCondition", "name": "Ophtalmoplégie externe progressive", "code": { "@type": "MedicalCode", "code": "D017246", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C23.888.592.636.447.511" } } }, "about": { "@type": "MedicalCondition", "name": "Syndrome de Kearns-Sayre", "alternateName": "Kearns-Sayre Syndrome", "code": { "@type": "MedicalCode", "code": "D007625", "codingSystem": "MeSH" } }, "author": [ { "@type": "Person", "name": "Diego Martinelli", "url": "https://questionsmedicales.fr/author/Diego%20Martinelli", "affiliation": { "@type": "Organization", "name": "Division of Metabolism, IRCCS Bambino Gesù Children's Hospital, 00165, Rome, Italy." } }, { "@type": "Person", "name": "Glen Lester Sequiera", "url": "https://questionsmedicales.fr/author/Glen%20Lester%20Sequiera", "affiliation": { "@type": "Organization", "name": "St. Boniface Hospital Albrechtsen Research Centre, Regenerative Medicine Program, Department of Physiology and Pathophysiology, Rady Faculty of Health Sciences, Institute of Cardiovascular Sciences, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB R2H 2A6, Canada." } }, { "@type": "Person", "name": "Abhay Srivastava", "url": "https://questionsmedicales.fr/author/Abhay%20Srivastava", "affiliation": { "@type": "Organization", "name": "St. Boniface Hospital Albrechtsen Research Centre, Regenerative Medicine Program, Department of Physiology and Pathophysiology, Rady Faculty of Health Sciences, Institute of Cardiovascular Sciences, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB R2H 2A6, Canada." } }, { "@type": "Person", "name": "Keshav Narayan Alagarsamy", "url": "https://questionsmedicales.fr/author/Keshav%20Narayan%20Alagarsamy", "affiliation": { "@type": "Organization", "name": "St. Boniface Hospital Albrechtsen Research Centre, Regenerative Medicine Program, Department of Physiology and Pathophysiology, Rady Faculty of Health Sciences, Institute of Cardiovascular Sciences, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB R2H 2A6, Canada." } }, { "@type": "Person", "name": "Cheryl Rockman-Greenberg", "url": "https://questionsmedicales.fr/author/Cheryl%20Rockman-Greenberg", "affiliation": { "@type": "Organization", "name": "Department of Pediatrics and Child Health, Rady Faculty of Health Sciences, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB R3E 3P4, Canada." } } ], "citation": [ { "@type": "ScholarlyArticle", "name": "Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms.", "datePublished": "2024-01-15", "url": "https://questionsmedicales.fr/article/38224444", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1007/s12035-024-03938-7" } }, { "@type": "ScholarlyArticle", "name": "Endocrine disorders in Kearns-Sayre syndrome with different severity of symptoms: two case reports and a literature review.", "datePublished": "2024-10-30", "url": "https://questionsmedicales.fr/article/39479991", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.4081/ejtm.2024.12897" } }, { "@type": "ScholarlyArticle", "name": "Case report: Clinical profile, molecular genetics, and neuroimaging findings presenting in a patient with Kearns-Sayre syndrome associated with inherited thrombophilia.", "datePublished": "2024-01-05", "url": "https://questionsmedicales.fr/article/38249739", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.3389/fneur.2023.1320757" } }, { "@type": "ScholarlyArticle", "name": "Administration of bicarbonates through percutaneous gastrostomy with continuous nocturnal infusion in a patient with Kearns-Sayre disease: a life changing therapeutical paradigm.", "datePublished": "2024-07-29", "url": "https://questionsmedicales.fr/article/39075568", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1186/s13052-024-01696-9" } }, { "@type": "ScholarlyArticle", "name": "Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.", "datePublished": "2022-10-17", "url": "https://questionsmedicales.fr/article/36253820", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1186/s13023-022-02538-9" } } ], "breadcrumb": { "@type": "BreadcrumbList", "itemListElement": [ { "@type": "ListItem", "position": 1, "name": "questionsmedicales.fr", "item": "https://questionsmedicales.fr" }, { "@type": "ListItem", "position": 2, "name": "États, signes et symptômes pathologiques", "item": "https://questionsmedicales.fr/mesh/D013568" }, { "@type": "ListItem", "position": 3, "name": "Signes et symptômes", "item": "https://questionsmedicales.fr/mesh/D012816" }, { "@type": "ListItem", "position": 4, "name": "Manifestations neurologiques", "item": "https://questionsmedicales.fr/mesh/D009461" }, { "@type": "ListItem", "position": 5, "name": "Paralysie", "item": "https://questionsmedicales.fr/mesh/D010243" }, { "@type": "ListItem", "position": 6, "name": "Ophtalmoplégie", "item": "https://questionsmedicales.fr/mesh/D009886" }, { "@type": "ListItem", "position": 7, "name": "Ophtalmoplégie externe progressive", "item": "https://questionsmedicales.fr/mesh/D017246" }, { "@type": "ListItem", "position": 8, "name": "Syndrome de Kearns-Sayre", "item": "https://questionsmedicales.fr/mesh/D007625" } ] } }, { "@type": "MedicalWebPage", "name": "Article complet : Syndrome de Kearns-Sayre - Questions et réponses", "headline": "Questions et réponses médicales fréquentes sur Syndrome de Kearns-Sayre", "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 Kearns-Sayre", "description": "Comment diagnostique-t-on le syndrome de Kearns-Sayre ?\nQuels tests génétiques sont utilisés ?\nQuels signes cliniques sont observés ?\nL'électrocardiogramme est-il utile ?\nLes biopsies musculaires sont-elles nécessaires ?", "url": "https://questionsmedicales.fr/mesh/D007625?page=2#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Syndrome de Kearns-Sayre", "description": "Quels sont les symptômes principaux ?\nLa fatigue est-elle un symptôme fréquent ?\nY a-t-il des problèmes de vision ?\nLes troubles de l'équilibre sont-ils possibles ?\nLes patients peuvent-ils avoir des douleurs musculaires ?", "url": "https://questionsmedicales.fr/mesh/D007625?page=2#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Syndrome de Kearns-Sayre", "description": "Peut-on prévenir le syndrome de Kearns-Sayre ?\nLes tests génétiques peuvent-ils aider ?\nLes conseils génétiques sont-ils utiles ?\nLes femmes enceintes doivent-elles être testées ?\nY a-t-il des recommandations pour les familles ?", "url": "https://questionsmedicales.fr/mesh/D007625?page=2#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Syndrome de Kearns-Sayre", "description": "Quel est le traitement principal du syndrome ?\nLes suppléments de coenzyme Q10 sont-ils utiles ?\nDes médicaments sont-ils prescrits pour la cardiomyopathie ?\nLa physiothérapie est-elle recommandée ?\nY a-t-il des traitements pour les troubles de la vision ?", "url": "https://questionsmedicales.fr/mesh/D007625?page=2#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Syndrome de Kearns-Sayre", "description": "Quelles sont les complications possibles ?\nLe syndrome peut-il affecter la qualité de vie ?\nY a-t-il un risque accru de diabète ?\nLes troubles de la mémoire sont-ils fréquents ?\nLes patients sont-ils à risque d'infections ?", "url": "https://questionsmedicales.fr/mesh/D007625?page=2#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Syndrome de Kearns-Sayre", "description": "Quels sont les facteurs de risque connus ?\nLe sexe influence-t-il le risque ?\nL'âge d'apparition est-il variable ?\nLes facteurs environnementaux jouent-ils un rôle ?\nLes mutations génétiques sont-elles héréditaires ?", "url": "https://questionsmedicales.fr/mesh/D007625?page=2#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostique-t-on le syndrome de Kearns-Sayre ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur l'examen clinique, l'IRM et des tests génétiques." } }, { "@type": "Question", "name": "Quels tests génétiques sont utilisés ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests pour détecter des mutations dans l'ADN mitochondrial sont effectués." } }, { "@type": "Question", "name": "Quels signes cliniques sont observés ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Ophtalmoplégie, troubles cardiaques et anomalies neurologiques sont typiques." } }, { "@type": "Question", "name": "L'électrocardiogramme est-il utile ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il peut montrer des anomalies cardiaques associées au syndrome." } }, { "@type": "Question", "name": "Les biopsies musculaires sont-elles nécessaires ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Elles peuvent être réalisées pour détecter des anomalies mitochondriales." } }, { "@type": "Question", "name": "Quels sont les symptômes principaux ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Ophtalmoplégie, cardiomyopathie, surdité et troubles neurologiques." } }, { "@type": "Question", "name": "La fatigue est-elle un symptôme fréquent ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la fatigue chronique est courante chez les patients atteints." } }, { "@type": "Question", "name": "Y a-t-il des problèmes de vision ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles visuels comme la ptose et la rétinopathie peuvent survenir." } }, { "@type": "Question", "name": "Les troubles de l'équilibre sont-ils possibles ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des problèmes d'équilibre et de coordination peuvent se manifester." } }, { "@type": "Question", "name": "Les patients peuvent-ils avoir des douleurs musculaires ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des douleurs musculaires et des crampes sont souvent rapportées." } }, { "@type": "Question", "name": "Peut-on prévenir le syndrome de Kearns-Sayre ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de méthode de prévention, car c'est une maladie génétique." } }, { "@type": "Question", "name": "Les tests génétiques peuvent-ils aider ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, ils peuvent identifier les porteurs et informer les familles." } }, { "@type": "Question", "name": "Les conseils génétiques sont-ils utiles ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, ils aident les familles à comprendre les risques de transmission." } }, { "@type": "Question", "name": "Les femmes enceintes doivent-elles être testées ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Si des antécédents familiaux existent, un test peut être recommandé." } }, { "@type": "Question", "name": "Y a-t-il des recommandations pour les familles ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des conseils sur la gestion des symptômes et le soutien psychologique." } }, { "@type": "Question", "name": "Quel est le traitement principal du syndrome ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de traitement curatif, mais des soins symptomatiques sont offerts." } }, { "@type": "Question", "name": "Les suppléments de coenzyme Q10 sont-ils utiles ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, ils peuvent aider à améliorer la fonction mitochondriale." } }, { "@type": "Question", "name": "Des médicaments sont-ils prescrits pour la cardiomyopathie ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des médicaments comme les bêtabloquants peuvent être utilisés." } }, { "@type": "Question", "name": "La physiothérapie est-elle recommandée ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la physiothérapie peut aider à améliorer la force et la mobilité." } }, { "@type": "Question", "name": "Y a-t-il des traitements pour les troubles de la vision ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Des aides visuelles et des interventions chirurgicales peuvent être envisagées." } }, { "@type": "Question", "name": "Quelles sont les complications possibles ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent l'insuffisance cardiaque et des troubles neurologiques." } }, { "@type": "Question", "name": "Le syndrome peut-il affecter la qualité de vie ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes peuvent gravement impacter la qualité de vie des patients." } }, { "@type": "Question", "name": "Y a-t-il un risque accru de diabète ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains patients peuvent développer un diabète de type 2." } }, { "@type": "Question", "name": "Les troubles de la mémoire sont-ils fréquents ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles cognitifs et de la mémoire peuvent survenir." } }, { "@type": "Question", "name": "Les patients sont-ils à risque d'infections ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, une immunité affaiblie peut augmenter le risque d'infections." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque connus ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les antécédents familiaux de maladies mitochondriales sont un facteur de risque." } }, { "@type": "Question", "name": "Le sexe influence-t-il le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Non, le syndrome affecte les hommes et les femmes de manière égale." } }, { "@type": "Question", "name": "L'âge d'apparition est-il variable ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes peuvent apparaître entre l'enfance et l'âge adulte." } }, { "@type": "Question", "name": "Les facteurs environnementaux jouent-ils un rôle ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, il n'y a pas de preuves solides sur l'influence environnementale." } }, { "@type": "Question", "name": "Les mutations génétiques sont-elles héréditaires ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les mutations peuvent être transmises par la mère à l'enfant." } } ] } ] }

Sources (10000 au total)

Case report: Clinical profile, molecular genetics, and neuroimaging findings presenting in a patient with Kearns-Sayre syndrome associated with inherited thrombophilia.

Kearns-Sayre syndrome (KSS) is classified as one of the mitochondrial DNA (mtDNA) deletion syndromes with multisystemic involvement. Additionally, the negative prognosis is associated with inherited t... This case report presents a 48-year-old man with chronic progressive external ophthalmoplegia, bilateral ptosis, cerebellar ataxia, cardiovascular signs (syncope, dilated cardiomyopathy, and cardiac a... The genetic tests performed on KSS patients should also include those for inherited thrombophilia. By detecting these mutations, we can prevent major complications such as cerebral venous sinus thromb...

Administration of bicarbonates through percutaneous gastrostomy with continuous nocturnal infusion in a patient with Kearns-Sayre disease: a life changing therapeutical paradigm.

Mitochondrial diseases (MDs) are systemic disorders that can affect multiple organs. Renal manifestations, including renal tubular acidosis, are common because kidneys are particularly vulnerable to e... We describe the case of a girl affected by Kearns-Sayre disease with severe renal tubular acidosis. The management of her metabolic acidosis was challenging because she showed persistent low levels of... In MDs, the combination of nocturnal continuous enteral administration of alkali plus diurnal boluses may represent a valid solution to correct metabolic acidosis. It can also result in an improved pa...

Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review.

Several recent studies identified mitochondrial mutations in patients with Gitelman or Fanconi syndrome. Mitochondrial cytopathies are generally not considered in the diagnostic workup of patients wit... Electrolyte reabsorption in the kidney has a high energy demand. Proximal and distal tubular epithelial cells have a high mitochondrial density for energy release. Recently, electrolyte disorders have... We searched PubMed, Embase, and Google Scholar for articles on genetically confirmed mitochondrial disease in patients for whom at least one electrolyte is reported. Patients with a known second genet... Of 362 reported patients, 289 had an electrolyte disorder, with it being the presenting or main symptom in 38 patients. The average number of different electrolyte abnormalities per patient ranged fro... Mitochondrial diseases should be considered in the evaluation of unexplained electrolyte disorders. Furthermore, clinicians should be aware of electrolyte abnormalities in patients with mitochondrial ...