Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Introduction: La polykystose rénale autosomique dominante (PKRAD), causée par des mutations de PKD1 ou PKD2, est la maladie héréditaire rénale la plus fréquente. En plus des anévrysmes intracrâniens (AIC) et du prolapsus mitral, d'autres atteintes vasculaires sont rapportés chez les patients PKRAD, dont les anévrysmes et dissections de l'aorte thoracique ascendante (TAAD's) et les cardiomyopathies (CMP).Méthodes: Nous avons étudié le phénotype vasculaire extra-cérébral dans la PKRAD en réalisant 2 analyses: (i) une description détaillée des familles comportant au moins deux membres avec un phénotype vasculaire extra-cérébral ; et (ii) une étude de prévalence à partir de la cohorte PKRAD des Cliniques universitaires Saint-Luc. A partir des protocoles écho cardiographiques, nous avons recueilli la valeur du diamètre de l'aorte thoracique ascendante, ainsi que noté la présence de cardiomyopathies (hypertrophie ventriculaire gauche et cardiopathie dilatée). L'anévrysme aortique est défini comme un diamètre de la racine aortique supérieur à 36 et 38 mm chez la femme et l'homme respectivement. Résultats: Nous avons identifié 6 familles dont au moins 2 membres présentent ≥ 1phénotype vasculaire. La première famille (PKD1) comprend 1 personne avec un anévrysme de l'aorte thoracique (TAA) et de l'artère poplitée et une deuxième décédée des suites d'une dissection aortique. La deuxième famille (PKD2) comporte 4 membres ayant présenté un AVC, 2 AIC, un TAA et une dissection aortique. La famille 3 (PKDI) comporte 1 personne avec un TAA et une autre avec un TAA et un anévrysme de l'artère sous-clavière. Une famille (PKDI) comportait 3 membres présentant un TAA et deux autres familles 2 membres avec u TAA. Nous-avons aussi étudié 2 autres familles (PKDJ et absence de mutation) comportant une personne avec une dissection aortique. Au total, 6 familles présentaient au moins 2 personnes avec un TAAD's. Tous les patients présentant ces phénotypes vasculaires sont atteints de la PKRAD. Le nombre de cas n'a pas pu permettre une corrélation génotype-phénotype. La revue des protocoles d'échocardiographie réalisés chez 508 patients (cohorte de 825) a montré une prévalence majorée d'anévrysme et de dissection de l'aorte thoracique (14.9%, soit 3.2 x la population générale). Le sexe masculin, l'âge avancé, la taille plus grande du patient et l'insuffisance rénale sont significativement associés au diamètre de l'aorte thoracique. Nous avions initialement trouvé 6 patients avec des critères de CMP mais aucun cas n'a été retenu comme associé à la PKRAD. Les limites de notre étude sont son caractère rétrospectif, et l'utilisation de cut-offs arbitraires au lieu de z-scores. Conclusions : La PKRAD est associée à une prévalence accrue de TAAD' s et une concentration familiale du phénotype semble exister. Ceci est expliqué, au moins en partie, par l'insuffisance rénale. Nous n'avons pas trouvée d'association entre PKRAD et CMP. Ces résultats devront être confirmés par des études plus larges et prospectives. Introduction: Autosomal dominant polycystic kidney disease (ADPKD), caused by PKDI or PKD2 mutations, is the most common inherited kidney disease. Intracranial aneurysms (ICA) and mitral valve prolapses are well known vascular complication of ADPKD patients. Other reported vascular manifestations include thoracic aortic aneurysms and dissections (TAAD's) and more recently cardiomyopathies (CMP).Methods: We studied the extra-cerebral vascular phenotype associated with ADPKD in 2 ways : (i) an exhaustive description of families with at least 2 members presenting a such a phenotype ; and (ii) a prevalence study of thoracic aortic aneurysms (aortic diameter cut-off of 36 mm and 38 mm in women and men respectively) and CMP (left ventricular idiopathic dilated cardiomyopathy and hypertrophic obstructive cardiomyopathy). Results: We identified 6 families with at least 2 members presenting with extra cerebral vascular phenotype. The first (PKD1) has one patient with thoracic aortic aneurysm (TAA) and popliteal aneurysm, and another who lied because of aortic dissection. The second (PKD2) has 4 members who presented a CVA, 2 transients ischemic attacks, one TAA and one aortic dissection. The third (PKDI) has 1 patient with TAA and subclavian aneurysm and 1 patient with TAA. One family (PKDJ) had 3 members with TAA and two others 2 members with TAA. We also studied 2 other families (PKDI and absence of mutation) involving a person with aortic dissection. In total, 6 families had at least 2 members with TAAD's. All patients with these vascular phenotypes have PKRAD. The limited number of cases did not permit a genotype-phenotype correlation. We reviewed the echocardiography protocols in 508 patients (out of a cohort of 825). This revealed an increased prevalence of thoracic aortic aneurysm and dissection (14.9%, 3.2 times more than in the general population). Males, older patients, taller patients and those with poorer renal function had statistically wider thoracic aortic diametees. We initially found 6 patients with CMP based on ultrasound criteria but none of the cases was potentially related to PKRAD. The limitations of our study are its retrospective character, the incomplete access to patients' medical data, and the use of arbitrary aortic root diameter cut-offs instead of z-scores. Conclusions: PKRAD is associated with an increased prevalence of TAAD's and a family concentration of the phenotype appears to exist. This is at least partly explained by the renal insufficiency. We did not find an association between PKRAD and CMP. These results need to be confirmed in larger prospective studies.

Polycystic Kidney, Autosomal Dominant

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Polycystic Kidney, Autosomal Dominant --- Chromosome Mapping --- Membrane Proteins --- Mutation --- genetics --- genetics --- genetics

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Polycystic kidney disease. --- Polycystic kidney disease --- Genetic aspects. --- ADPKD (Disease) --- Autosomal dominant polycystic kidney disease --- Kidney, Polycystic --- PKD (Disease) --- Human chromosome abnormalities --- Kidney, Cystic

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

This comprehensive guide to polycystic kidney disease captures the growing knowledge of this common, potentially-fatal and hereditary disease. The first two sections of the book provide an overview of PKD gene structures, mutations and pathophysiologic mechanisms. This is followed by chapters focused on PKD’s clinical features, including renal and extrarenal manifestations, and appropriate management of patients. The final section covers current clinical trials and emerging therapies in PKD. Authored by experts in the field, this book provides the clinician and researcher with critical information on basic and translational science and clinical approaches in one concise resource.

Polycystic kidney disease --- Molecular aspects. --- Medicine. --- Nephrology. --- Medicine & Public Health. --- Internal medicine --- Kidneys --- Clinical sciences --- Medical profession --- Human biology --- Life sciences --- Medical sciences --- Pathology --- Physicians --- ADPKD (Disease) --- Autosomal dominant polycystic kidney disease --- Kidney, Polycystic --- PKD (Disease) --- Human chromosome abnormalities --- Kidney, Cystic

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Top experts from all over the world have been brought together by the editors, to give a world of expertise on this important subject, with a strong emphasis on therapy and management.

Parkinson's disease. --- Movement disorders. --- Maladie de Parkinson --- Troubles moteurs --- Parkinson, Maladie de --- Maladie de Parkinson. --- Troubles moteurs. --- Parkinson's disease --- Movement disorders --- Parkinson Disease --- Movement Disorders --- Central Nervous System Diseases --- Parkinsonian Disorders --- Neurodegenerative Diseases --- Nervous System Diseases --- Basal Ganglia Diseases --- Brain Diseases --- Diseases --- Neurology --- Medicine --- Health & Biological Sciences --- Brain Disorders --- CNS Disorders, Intracranial --- Central Nervous System Disorders, Intracranial --- Central Nervous System Intracranial Disorders --- Encephalon Diseases --- Encephalopathy --- Intracranial CNS Disorders --- Intracranial Central Nervous System Disorders --- Brain Disease --- Brain Disorder --- CNS Disorder, Intracranial --- Encephalon Disease --- Encephalopathies --- Intracranial CNS Disorder --- Basal Ganglia Disorders --- Lenticulostriate Disorders --- Extrapyramidal Disorders --- Basal Ganglia Disease --- Basal Ganglia Disorder --- Extrapyramidal Disorder --- Lenticulostriate Disorder --- Nervous System Disorders --- Neurological Disorders --- Neurologic Disorders --- Disease, Nervous System --- Diseases, Nervous System --- Disorder, Nervous System --- Disorder, Neurologic --- Disorder, Neurological --- Disorders, Nervous System --- Disorders, Neurologic --- Disorders, Neurological --- Nervous System Disease --- Nervous System Disorder --- Neurologic Disorder --- Neurological Disorder --- Degenerative Diseases, Central Nervous System --- Degenerative Diseases, Neurologic --- Degenerative Diseases, Spinal Cord --- Degenerative Neurologic Diseases --- Degenerative Neurologic Disorders --- Nervous System Degenerative Diseases --- Neurodegenerative Disorders --- Neurologic Degenerative Conditions --- Neurologic Degenerative Diseases --- Neurologic Diseases, Degenerative --- Degenerative Diseases, Nervous System --- Degenerative Condition, Neurologic --- Degenerative Conditions, Neurologic --- Degenerative Neurologic Disease --- Degenerative Neurologic Disorder --- Neurodegenerative Disease --- Neurodegenerative Disorder --- Neurologic Degenerative Condition --- Neurologic Degenerative Disease --- Neurologic Disease, Degenerative --- Neurologic Disorder, Degenerative --- Neurologic Disorders, Degenerative --- Autosomal Dominant Juvenile Parkinson Disease --- Autosomal Dominant Juvenile Parkinsonism --- Autosomal Dominant Parkinsonism --- Autosomal Recessive Juvenile Parkinson Disease --- Autosomal Recessive Parkinsonism --- Chromosome 6-Linked Autosomal Recessive Parkinsonism --- Experimental Parkinson Disease --- Experimental Parkinsonism --- Experimental Parkinsonism, MPTP-Induced --- Familial Parkinson Disease, Autosomal Recessive --- Juvenile Parkinson Disease --- Juvenile Parkinson Disease, Autosomal Dominant --- Juvenile Parkinson Disease, Autosomal Recessive --- Juvenile Parkinsonism, Autosomal Dominant --- Juvenile Parkinsonism, Autosomal Recessive --- MPTP-Induced Experimental Parkinsonism --- Parkinson Disease 2 --- Parkinson Disease 2, Autosomal Recessive Juvenile --- Parkinson Disease Autosomal Recessive, Early Onset --- Parkinson Disease, Autosomal Dominant. Juvenile --- Parkinson Disease, Experimental --- Parkinson Disease, Familial, Autosomal Recessive --- Parkinson Disease, Juvenile --- Parkinson Disease, Juvenile, Autosomal Dominant --- Parkinson Disease, Juvenile, Autosomal Recessive --- Parkinsonian Diseases --- Parkinsonian Syndromes --- Parkinsonism, Early Onset, with Diurnal Fluctuation --- Parkinsonism, Early-Onset, With Diurnal Fluctuation --- Parkinsonism, Juvenile, Autosomal Dominant --- Parkinsonism, Juvenile, Autosomal Recessive --- Autosomal Recessive Juvenile Parkinsonism --- Familial Juvenile Parkinsonism --- Parkinsonian Syndrome --- Parkinsonism --- Parkinsonism, Experimental --- Parkinsonism, Juvenile --- Ramsay Hunt Paralysis Syndrome --- Chromosome 6 Linked Autosomal Recessive Parkinsonism --- Diseases, Experimental Parkinson --- Dominant Parkinsonism, Autosomal --- Experimental Parkinson Diseases --- Experimental Parkinsonism, MPTP Induced --- Experimental Parkinsonisms --- Juvenile Parkinsonism --- Juvenile Parkinsonism, Familial --- Juvenile Parkinsonisms --- MPTP Induced Experimental Parkinsonism --- Parkinson Diseases, Experimental --- Parkinsonism, Autosomal Dominant --- Parkinsonism, Autosomal Recessive --- Parkinsonism, Familial Juvenile --- Parkinsonism, MPTP-Induced Experimental --- Parkinsonisms, Experimental --- Parkinsonisms, Juvenile --- Recessive Parkinsonism, Autosomal --- Striatonigral Degeneration --- CNS Diseases --- Central Nervous System Disorders --- CNS Disease --- Central Nervous System Disease --- Central Nervous System Disorder --- Movement Disorder Syndromes --- Dyskinesia Syndromes --- Etat Marbre --- Status Marmoratus --- Dyskinesia Syndrome --- Movement Disorder --- Movement Disorder Syndrome --- Psychomotor Disorders --- Dyskinesias --- Idiopathic Parkinson's Disease --- Lewy Body Parkinson's Disease --- Parkinson Disease, Idiopathic --- Parkinson's Disease --- Parkinson's Disease, Idiopathic --- Parkinson's Disease, Lewy Body --- Idiopathic Parkinson Disease --- Lewy Body Parkinson Disease --- Paralysis Agitans --- Primary Parkinsonism --- Parkinsonism, Primary --- Lewy Bodies --- Manganese Poisoning --- Dyskinesia --- Motor disorders --- Disabilities --- Nervous system --- Palsy, Shaking --- Paralysis agitans --- Parkinson disease --- Shaking palsy --- Brain --- Extrapyramidal disorders