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Mashup Score: 2
Increasing evidence suggests that dysregulation of cellular metabolism has a role in the pathophysiology of autosomal dominant polycystic kidney disease. Here the authors discuss the underlying pathways and review efforts to use pharmacological interventions and lifestyle modifications to slow disease progression.
Source: Nature Reviews NephrologyCategories: Latest Headlines, NephrologyTweet
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Mashup Score: 7
Autosomal dominant polycystic kidney disease (ADPKD) is caused by pathogenic mutations in the genes that encode polycystin 1 (PC1) and PC2. In this article, the authors discuss findings from structural and electrophysiological studies that give us insight into the function of polycystins and ADPKD pathogenesis.
Source: Nature Reviews NephrologyCategories: Latest Headlines, NephrologyTweet
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Mashup Score: 0
Our findings provide a novel insight into the pathogenesis related to autophagy in PKD, suggesting that drugs related to autophagy regulation should be considered with caution for treating PKD.
Source: EBioMedicineCategories: General Medicine Journals and Societies, Latest HeadlinesTweet
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Mashup Score: 4Study finds pioneering dual surgery a safe option for patients with polycystic kidney disease - 4 year(s) ago
ROCHESTER, Minn. — Patients with large polycystic kidneys in need of a kidney transplant can have their diseased kidneys safely […]
Categories: General Medicine Journals and Societies, Latest HeadlinesTweet
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Mashup Score: 0The variable manifestations of disease in pyruvate kinase deficiency and their management | Haematologica - 4 year(s) ago
Abstract Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary non-spherocytic hemolytic anemia and results in a broad spectrum of…
Source: buff.lyCategories: Hem/Onc News and Journals, Latest HeadlinesTweet
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Mashup Score: 5
Increasing evidence suggests that dysregulation of cellular metabolism has a role in the pathophysiology of autosomal dominant polycystic kidney disease. Here the authors discuss the underlying pathways and review efforts to use pharmacological interventions and lifestyle modifications to slow disease progression.
Source: Nature Reviews NephrologyCategories: Latest Headlines, NephrologyTweet
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Mashup Score: 11
Increasing evidence suggests that dysregulation of cellular metabolism has a role in the pathophysiology of autosomal dominant polycystic kidney disease. Here the authors discuss the underlying pathways and review efforts to use pharmacological interventions and lifestyle modifications to slow disease progression.
Source: Nature Reviews NephrologyCategories: Latest Headlines, NephrologyTweet
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Mashup Score: 0Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes - 4 year(s) ago
Autosomal dominant polycystic kidney disease (ADPKD) represents the most common hereditary nephropathy. Despite growing evidence for genetic heterogeneity, ADPKD diagnosis is still primarily based upon clinical imaging criteria established before discovery of additional PKD genes. This study aimed at assessing the diagnostic value of genetic verification in clinical ADPKD. In this prospective,…
Source: Genetics in MedicineCategories: Cardiologists, Latest HeadlinesTweet-
Autosomal dominant #PKD: Pie charts show distribution of genetic findings; 100-family cohort; PKD1 & PKD2 carriers. LP = likely pathogenic variant; P = pathogenic variant; nF = number of families; nI = number of individuals. #PrecisionMedicine #FLCN #ALG9 https://t.co/JVHucl5thJ https://t.co/U1vjgq7rqa
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Mashup Score: 0Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes - 4 year(s) ago
Autosomal dominant polycystic kidney disease (ADPKD) represents the most common hereditary nephropathy. Despite growing evidence for genetic heterogeneity, ADPKD diagnosis is still primarily based upon clinical imaging criteria established before discovery of additional PKD genes. This study aimed at assessing the diagnostic value of genetic verification in clinical ADPKD. In this prospective,…
Source: Genetics in MedicineCategories: Cardiologists, Latest HeadlinesTweet-
Genetic verification & exome sequencing study in 100 #families with clinically diagnosed autosomal dominant PKD shows value of #genetic #testing in a real-world #PKD cohort. Calls for genetic confirmation as basis for PKD #PatientCare. #PrecisionMedicine https://t.co/JVHucl5thJ https://t.co/ZMdR8IUCve
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Mashup Score: 2
Accurate prediction of risk for disease progression is crucial for clinical management of autosomal dominant polycystic kidney disease (ADPKD). The Mayo imaging classification of ADPKD uses height-adjusted total kidney volume (htTKV) and age to identify patients at highest risk. Because the current Mayo classification applies only to patients with typical diffuse cystic disease (class 1) and…
Source: American Society of NephrologyCategories: Latest Headlines, NephrologyTweet-
In autosomal dominant polycystic #kidneydisease, excluding prominent exophytic cysts when measuring height-adjusted total #kidney volume may improve prediction of eGFR decline and allow inclusion of class 2 patients in the Mayo imaging classification https://t.co/k3YmJU2FLR #PKD https://t.co/5e5IaNiL7s
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Model of metabolic dysfunction in #PKD from a Review by Luis Fernando Menezes and Gregory Germino https://t.co/9gGvvXEWSZ https://t.co/a3EfkDJTuA