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Accurate diagnosis and effective prevention are critical in managing Acute Kidney Injury (AKI), which is linked to high mortality rates ranging from 10% to 80%. Timely recognition of at-risk patients and careful monitoring can significantly reduce the likelihood of kidney damage.Diagnostic Assessments:The diagnostic process starts with a comprehensive medical history to identify prerenal, intrarenal, and postrenal causes.Prerenal causes, such as dehydration, hypotension, or blood loss, should...
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Updated: Jul 29, 2025

Application of Laser Microdissection to Uncover Regional Transcriptomics in Human Kidney Tissue
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Genomics in the kidney clinic.

Gabriel T Doctor1, Daniel P Gale1,2, Melanie My Chan3,2

  • 1Royal Free Hospital, London, UK.

Clinical Medicine (London, England)
|May 26, 2023
PubMed
Summary

Clinical genomic testing aids in diagnosing and managing inherited kidney diseases like ADPKD and Alport syndrome in England. This approach enhances understanding of disease spectrum and variant interpretation challenges.

Keywords:
ADPKDADTKDAlport syndromeFSGSgenomics

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Area of Science:

  • Nephrology and Genetics
  • Clinical genomics and inherited kidney diseases

Background:

  • Inherited kidney diseases are a significant cause of end-stage kidney disease, frequently encountered in nephrology clinics.
  • Clinical genomic testing is becoming more accessible in the UK, with England offering referral through the NHS Genomic Medicine Service.

Purpose of the Study:

  • To highlight the utility of clinical genomic testing for diagnosing, prognosing, and managing inherited kidney diseases.
  • To discuss the expanding understanding of inherited kidney disease phenotypes and variant interpretation challenges with advanced genomic technologies.

Main Methods:

  • Review of clinical applications of genomic testing for inherited kidney diseases.
  • Discussion of specific conditions including autosomal dominant polycystic kidney disease (ADPKD), Alport syndrome, autosomal dominant tubulointerstitial kidney disease (ADTKD), and focal segmental glomerulosclerosis (FSGS).
  • Consideration of newer technologies like whole genome sequencing.

Main Results:

  • Genomic testing provides valuable diagnostic, prognostic, and management insights for various inherited kidney diseases.
  • Increasing application of genomic testing and advanced technologies is broadening the appreciation of disease phenotypes.
  • Challenges in interpreting clinically significant variants are being identified and addressed.

Conclusions:

  • Clinical genomic testing is an essential tool for patients with inherited kidney diseases.
  • Ongoing advancements in genomic technologies are crucial for a comprehensive understanding of these conditions and improving patient care.
  • Further research is needed to refine variant interpretation and fully elucidate the phenotypic spectrum.