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Related Concept Videos

Nephrons01:10

Nephrons

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 happens...
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
Acute Kidney Injury II: Pathophysiology01:29

Acute Kidney Injury II: Pathophysiology

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...
Diabetic Nephropathy01:28

Diabetic Nephropathy

Definition Diabetic nephropathy is a chronic kidney complication that results from prolonged hyperglycemia.Prevalence It is the most common cause of chronic kidney disease (CKD) and end-stage renal disease (ESRD) worldwide, affecting up to half of individuals with diabetes.Pathophysiology • Sustained hyperglycemia triggers multiple hemodynamic and metabolic changes in the kidney. • Early in the disease, increased renal blood flow and glomerular hyperfiltration occur due to afferent arteriolar...
Chronic Kidney Disease I: Introduction01:25

Chronic Kidney Disease I: Introduction

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...
Nephrotic Syndrome II : Assessment and Medical Management01:26

Nephrotic Syndrome II : Assessment and Medical Management

IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document any history...

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Nephronophthisis: Current clinical spectrum and molecular pathogenesis.

Ya Li1,2, Siwei Yang3, Xiying Chen1

  • 1Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases, Hangzhou, China.

The FEBS Journal
|July 4, 2026
PubMed
Summary

Nephronophthisis (NPH) is a genetic kidney disease causing end-stage kidney disease (ESKD). Advances reveal over 20 causative genes and molecular pathways, paving the way for new therapies like gene therapy.

Keywords:
CiliopathyGenetic pathogenesisKidney diseaseNephronophthisisPrimary cilia

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Nephrotoxin Microinjection in Zebrafish to Model Acute Kidney Injury
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Isolation of Glomeruli and In Vivo Labeling of Glomerular Cell Surface Proteins
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Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Nephronophthisis (NPH) is a primary ciliopathy affecting renal tubules and interstitial tissue, leading to end-stage kidney disease (ESKD).
  • NPH presents a broad clinical spectrum, classified by age of onset (infantile, juvenile, adolescent, late-onset).
  • Histopathology reveals corticomedullary cysts, tubular atrophy, interstitial fibrosis, and cystic dilatation of distal tubules.

Purpose of the Study:

  • To review current understanding of NPH classification, clinical features, and molecular mechanisms.
  • To highlight recent advances in genetic discoveries and pathogenic signaling pathways.
  • To summarize emerging therapeutic strategies for NPH.

Main Methods:

  • Literature review of NPH classification and clinical features.
  • Analysis of genetic discoveries and identified causative genes (e.g., NPHP1).
  • Examination of molecular mechanisms involving ciliary function and signaling pathways.

Main Results:

  • Over 20 causative genes identified, encoding proteins crucial for ciliary function.
  • Disruption of ciliary function leads to epithelial polarity loss, impaired trafficking, and disrupted signaling.
  • Extrarenal manifestations define nephronophthisis-related ciliopathies (NPH-RC).

Conclusions:

  • NPH pathogenesis involves disrupted ciliary structure and signaling, causing progressive kidney damage.
  • Genetic discoveries have expanded our understanding of NPH.
  • Gene therapy and targeted molecular interventions show promise as future therapeutic strategies.