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Related Concept Videos

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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 (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 (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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The glomerulus and Bowman's capsule are two essential components of the nephron, which is the functional unit of the kidney. These microscopic structures play a critical role in the process of blood filtration to produce urine.
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A kidney transplant is a surgical approach that involves replacing a non-functioning kidney with a healthy one from a donor. This procedure is often a treatment option for end-stage renal disease (ESRD) patients. The method requires careful recipient selection, including evaluating various medical and psychosocial factors. These criteria vary between transplant centers but generally include assessments of the patient's overall health, adherence to medical recommendations, and lifestyle...
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Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
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Related Experiment Video

Updated: Sep 15, 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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Gene-Disease Relationships in Kidney Genetics.

Vanessa Gitau1, Julie Ratliff1, Ryan Webb1

  • 1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Seminars in Nephrology
|July 16, 2025
PubMed
Summary
This summary is machine-generated.

Gene curation is crucial for identifying genetic disease causes using genomic sequencing. The Clinical Genome Resource (ClinGen) provides expert-reviewed gene-disease evidence to aid nephrologists in clinical decision-making.

Keywords:
ClinGenGenecurationpanelsvariant

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Area of Science:

  • Genomics
  • Clinical Genetics
  • Nephrology

Background:

  • Genomic sequencing is vital for diagnosing genetic diseases.
  • Gene curation determines the inclusion and prioritization of genes in diagnostic panels and variant classification.
  • Evaluating gene-disease relationships requires robust genetic and experimental evidence.

Purpose of the Study:

  • To review the Clinical Genome Resource's (ClinGen) gene curation framework and its application in nephrology.
  • To highlight the importance of gene curation for clinical validity assessment in kidney diseases.
  • To empower nephrologists with knowledge of gene curation principles for patient care.

Main Methods:

  • Utilizing the semiquantitative framework developed by ClinGen for gene curation.
  • Employing a multidisciplinary approach within ClinGen Gene Curation Expert Panels (GCEPs).
  • Reviewing published gene curations accessible via the ClinGen website.

Main Results:

  • ClinGen's framework and GCEPs provide expert-informed gene curations for various kidney diseases.
  • These curations establish clinical validity of gene-disease relationships.
  • Published resources are available to assist nephrologists.

Conclusions:

  • ClinGen's gene curation resources are essential for validating genetic findings in nephrology.
  • Understanding gene curation principles enables informed clinical decision-making.
  • Expert-curated genetic information improves the relevance of genomic sequencing in patient care.