Germline Mutations for Kidney Volume in ADPKD

Abstract

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The screening, diagnosis, and management of patients with autosomal dominant polycystic kidney disease: A national consensus statement from Taiwan

“…31 PKD1 splicing and frameshift mutations are associated with TKV ≥1000 mL or Mayo subclass 1C-1E. 32 With more than 2000 mutations identified to date, the genetics of ADPKD is becoming more complex (ADPKD Mutation Database: [http://pkdb.…”

“…Truncating mutations are associated with an earlier age of ESKD onset than non‐truncating mutations 31 . PKD1 splicing and frameshift mutations are associated with TKV ≥1000 mL or Mayo subclass 1C–1E 32 . With more than 2000 mutations identified to date, the genetics of ADPKD is becoming more complex (ADPKD Mutation Database: [http://pkdb.mayo.edu]).…”

Visceral fat and attribute-based medicine in chronic kidney disease

“…Fröhlich et al identified the following challenges in data science (artificial intelligence [AI]/machine learning) for personalized medicine (1): insufficient prediction performance for clinical practice (2), difficulties in interpretation, and (3) insufficient validation for clinical practice (105). Indeed, unlike in genetic diseases (106) where personalized medicine can be applied according only to genetic mutations (107)(108)(109)(110), most patients with CKD are affected by multiple risk factors for disease progression (111,112). In patients with CKD, the risk factors and pathophysiological conditions generally differ regarding patient attributes (113).…”