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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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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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[Major advances in pediatric nephro-genetics].

Marguerite Hureaux1, Laurence Heidet2, Rosa Vargas-Poussou3

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Summary

Genomic sequencing advances have revolutionized the diagnosis of inherited kidney diseases. Molecular diagnosis using next-generation sequencing (NGS) aids treatment but requires expert interpretation to avoid misdiagnosis.

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Area of Science:

  • Genetics and Genomics
  • Nephrology
  • Molecular Biology

Background:

  • Significant advancements in understanding inherited kidney diseases stem from progress in genetics.
  • High-throughput sequencing technologies, like next-generation sequencing (NGS), offer unprecedented resolution in genome analysis.
  • Decreasing sequencing costs have made molecular diagnostics central to managing hereditary nephropathies.

Approach:

  • This review provides a historical overview of key developments in the study of hereditary kidney diseases.
  • It details the evolution of NGS technologies applied to pediatric hereditary nephropathies.
  • The review presents major hereditary nephropathies and their molecular underpinnings.

Key Points:

  • NGS is a powerful tool for identifying disease-causing variants.
  • Over-interpretation of variants identified by NGS can lead to diagnostic errors.
  • Specialist expertise is crucial for accurate interpretation of NGS data in hereditary kidney diseases.

Conclusions:

  • Molecular diagnostics, particularly NGS, play a critical role in diagnosing and managing inherited kidney diseases.
  • Key hereditary nephropathies discussed include ciliopathies, congenital anomalies of the kidney and urinary tract, podocytopathies, and tubulopathies.
  • Accurate interpretation of genomic data is essential to leverage the full potential of NGS in clinical nephrology.