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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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Acute kidney injury (AKI) causes are categorized into three primary categories based on the location of the injury: prerenal, intrarenal (or intrinsic), and postrenal causes. This classification guides clinical management and illustrates how different pathways can impair kidney function.Etiology and Pathophysiology of Acute Kidney Injury1. Prerenal causesEtiology: Prerenal Acute Kidney Injury, the most common type, occurs when reduced blood flow to the kidneys decreases filtration capacity...
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Chronic Kidney Disease (CKD) arises when the kidneys progressively lose their ability to function, ultimately leading to end-stage kidney disease (ESKD). 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...
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Related Experiment Video

Updated: Jul 11, 2025

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Nephronophthisis: a pathological and genetic perspective.

Matthias T F Wolf1,2, Stephen M Bonsib3, Christopher P Larsen3

  • 1Division of Pediatric Nephrology, University of Texas, Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX, 75390, USA. matthias.wolf@utsouthwestern.edu.

Pediatric Nephrology (Berlin, Germany)
|November 6, 2023
PubMed
Summary

Nephronophthisis (NPHP) is a leading genetic cause of kidney failure in youth. This review details NPHP-related ciliopathies, their genetic basis, and promising therapeutic targets.

Keywords:
CiliopathyInherited nephropathyJoubert syndromeLiver fibrosisNephronophthisisSenior-Løken syndromeSkeletal abnormalities

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Area of Science:

  • Genetics
  • Nephrology
  • Cell Biology

Background:

  • Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease causing kidney failure in children and adolescents.
  • Over 20 genes are implicated in NPHP, with over 90 contributing to renal ciliopathies affecting multiple organs.
  • 15-20% of NPHP patients exhibit extrarenal symptoms, classifying them as NPHP-related ciliopathies (NPHP-RC).

Purpose of the Study:

  • To review pathological findings and recent genetic advances in Nephronophthisis and NPHP-related ciliopathies.
  • To explore the diverse molecular mechanisms and signaling pathways involved in NPHP pathogenesis.
  • To highlight promising therapeutic interventions for NPHP and related disorders.

Main Methods:

  • Literature review focusing on pathological findings and genetic discoveries in NPHP and NPHP-RC.
  • Analysis of shared gene product expression in centrosomes and primary cilia.
  • Examination of signaling pathways including planar cell polarity, Shh, DNA damage response, Hippo, mTOR, and cAMP.

Main Results:

  • NPHP is classified as a ciliopathy due to the role of primary cilia in disease pathogenesis.
  • NPHP-RC encompasses syndromic forms involving the retina, CNS, liver, and bone.
  • Multiple signaling pathways are implicated, including planar cell polarity, Shh, DNA damage response, Hippo, mTOR, and cAMP.

Conclusions:

  • Understanding the genetic and molecular basis of NPHP and NPHP-RC is crucial for diagnosis and treatment.
  • Shared expression of NPHP gene products in primary cilia explains multi-organ involvement in NPHP-RC.
  • Emerging therapeutic strategies targeting specific pathways show promise for treating these complex genetic disorders.