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Genetic Analysis of Severe Polycystic Liver Disease in Japan.

Hiroki MizunoWhitney BesseAkinari SekineKelly T LongShigekazu KuriharaYuki ObaMasayuki YamanouchiEiko HasegawaTatsuya SuwabeNaoki SawaYoshifumi UbaraStefan SomloJunichi Hoshino
Published in: Kidney360 (2024)
ADPLD-related genes represent 20% of severe PLD patients in our cohort. Of those enrolled with ADPKD, we observed a higher frequency of PKD2 carriers than in any previously reported ADPKD cohorts. While there was no significant difference in the hTLV between PKD1 versus PKD2 patients in this cohort, our data suggests that enrollment on the basis of severe PLD may enrich for PKD2 patients.
Keyphrases
  • end stage renal disease
  • chronic kidney disease
  • ejection fraction
  • newly diagnosed
  • healthcare
  • early onset
  • machine learning
  • electronic health record
  • deep learning
  • affordable care act