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Chronic Kidney Disease (CKD) arises when the kidneys progressively lose their ability to function, ultimately leading to end-stage renal disease. At this advanced stage, the kidneys can no longer filter waste or maintain essential body functions, requiring renal replacement therapy (RRT) through dialysis or a kidney transplant for survival.Early-stage chronic kidney disease and detection challengesIn CKD's early stages, symptoms often remain absent because healthy nephrons compensate for...
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Chronic Kidney Disease III: Interprofessional Care01:28

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The kidneys are a pair of bean-shaped organs in the human body that play a critical role in maintaining overall health. They filter out waste products from the blood, regulate blood pressure, maintain electrolyte balance, and stimulate the production of red blood cells.
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Primary hyperoxaluria type 1-current practice in the siRNA era: an ERA Genes & Kidney Working Group survey.

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Autosomal dominant polycystic kidney disease: Current perspectives in 2026.

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A Possible Zebrafish Model of Polycystic Kidney Disease: Knockdown of wnt5a Causes Cysts in Zebrafish Kidneys
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[Polycystic kidney disease].

Émilie Cornec-Le Gall1

  • 1Service de néphrologie, hémodialyse et transplantation rénale, hôpital la Cavale Blanche, CHRU de Brest, Brest, France.

La Revue Du Praticien
|March 15, 2019
PubMed
Summary
This summary is machine-generated.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) genetics, primarily PKD1 and PKD2 mutations, influence disease severity. New gene discoveries in unresolved cases suggest a potentially better renal prognosis for these patients.

Keywords:
Autosomal Dominant Polycystic Kidney Diseasepolycystic kidney disease

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Area of Science:

  • Nephrology
  • Human Genetics
  • Molecular Biology

Background:

  • Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a common genetic disorder.
  • Mutations in PKD1 or PKD2 genes account for over 90% of ADPKD cases.
  • Disease severity and progression are linked to specific genetic mutations.

Purpose of the Study:

  • To investigate the genetic underpinnings of ADPKD.
  • To explore the relationship between genetic factors and renal disease prognosis.
  • To identify novel genetic contributors in ADPKD patients with unresolved genetic profiles.

Main Methods:

  • Genetic analysis of ADPKD patients.
  • Mutation screening of known ADPKD genes (PKD1, PKD2).
  • Identification and characterization of novel genes in genetically unresolved cases.

Main Results:

  • PKD1 and PKD2 mutations are the primary genetic cause in most ADPKD patients.
  • Genetic factors significantly influence the risk of developing end-stage renal disease.
  • Two novel genes identified in previously unresolved ADPKD cohorts.

Conclusions:

  • Genetic mutations in PKD1 and PKD2 are key determinants of ADPKD.
  • Genetic and clinical factor stratification aids in predicting ADPKD progression.
  • Newly identified genes may indicate a milder renal prognosis in specific ADPKD patient groups.