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Nephrons01:10

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The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma...
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Chronic Kidney Disease III: Interprofessional Care01:28

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Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...
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Related Experiment Video

Updated: Oct 1, 2025

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
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Germline Mutations for Kidney Volume in ADPKD.

Hiroshi Kataoka1,2, Rie Yoshida1, Naomi Iwasa1

  • 1Department of Nephrology, Tokyo Women's Medical University, Tokyo, Japan.

Kidney International Reports
|March 8, 2022
PubMed
Summary

Germline mutation type in Autosomal Dominant Polycystic Kidney Disease (ADPKD) impacts disease progression. Splicing or frameshift mutations in PKD1 are linked to increased total kidney volume and advanced Mayo imaging classification, aiding prognosis prediction.

Keywords:
Mayo imaging classificationautosomal dominant polycystic kidney diseaseframeshift mutationgermline mutationkidney volumesplicing mutation

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Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
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Assessment of Kidney Function in Mouse Models of Glomerular Disease
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Area of Science:

  • Nephrology
  • Genetics
  • Pediatric Nephrology

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) lacks validated predictors for disease progression in pediatric patients.
  • Total kidney volume (TKV) and Mayo imaging classification are current ADPKD progression predictors, but their association with germline mutation types is not well-defined.

Purpose of the Study:

  • To investigate the association between germline mutation types in the PKD1 gene and indicators of disease severity (TKV and Mayo imaging classification) in ADPKD patients.
  • To determine if specific PKD1 mutation types can predict disease progression in ADPKD.

Main Methods:

  • A cohort of 129 ADPKD patients with available genetic analyses was studied.
  • Associations between PKD severity (TKV ≥ 1000 ml, Mayo classes 1C-1E) and PKD1 mutation types (nonsense, frameshift/splicing, substitution) were evaluated using logistic regression analyses.

Main Results:

  • PKD1 splicing/frameshift mutations showed a significant association with both TKV ≥ 1000 ml and Mayo 1C-1E classification, even after multivariable adjustment.
  • PKD1 nonsense mutations, substitution mutations, or mutation position did not demonstrate significant associations with the evaluated disease severity metrics.

Conclusions:

  • Kidney cyst severity in ADPKD varies based on PKD1 mutation type.
  • Patients with PKD1 splicing or frameshift mutations exhibit a higher likelihood of increased TKV and advanced Mayo imaging classification, suggesting these mutations are key predictors of renal prognosis.
  • Detailed analysis of mutation types can enhance the prediction of renal prognosis in ADPKD, particularly for high-risk pediatric populations.