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Related Concept Videos

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...
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...
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...
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...
Nephrotic Syndrome III : Nursing Management01:24

Nephrotic Syndrome III : Nursing Management

Nursing management for nephrotic syndrome adapts as the disease progresses, with strategies evolving to address advancing symptoms and complications.Early-Stage Management In the early stages, nursing interventions for nephrotic syndrome resemble those used in managing acute glomerulonephritis, focusing on symptom monitoring, fluid balance, and managing mild to moderate edema.Vital Signs: Regularly monitor blood pressure, pulse, respiratory rate, and temperature to promptly identify...
Acute Pyelonephritis I: Introduction01:27

Acute Pyelonephritis I: Introduction

Pyelonephritis is a bacterial infection that primarily affects the renal parenchyma and collecting system, including the renal pelvis, tubules, and interstitial tissue of one or both kidneys. It can be classified as either acute—a sudden, severe infection—or chronic, which refers to long-term or recurrent kidney infections.The primary cause of acute pyelonephritis (APN) is bacterial infection, with Escherichia coli accounting for approximately 70-80% of cases. Other bacteria, such as Proteus,...

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Related Experiment Video

Updated: Jun 16, 2026

Induction of Nephrotic Syndrome in Mice by Retrobulbar Injection of Doxorubicin and Prevention of Volume Retention by Sustained Release Aprotinin
07:38

Induction of Nephrotic Syndrome in Mice by Retrobulbar Injection of Doxorubicin and Prevention of Volume Retention by Sustained Release Aprotinin

Published on: May 6, 2018

A Novel NPHS1-Associated Phenotype Characterized by Recurrent Transient Proteinuria.

Etsuko Tanaka1, Takao Konomoto1, Hiromi Sakaguchi1

  • 1Department of Pediatrics, Faculty of Medicine, University of Miyazaki, 5200 Kihara, Kiyotake, Miyazaki, 889-1692, Japan, miyazaki-u.ac.jp.

Case Reports in Nephrology
|June 15, 2026
PubMed
Summary

This study details a child with atypical nephrotic syndrome caused by novel NPHS1 gene variants. Genetic testing revealed compound heterozygous NPHS1 variants, expanding the disease

Keywords:
NPHS1 variantsgenetic testingnephrinnephrotic syndromesteroid-responsivetransient proteinuria

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Isolation of Glomeruli and In Vivo Labeling of Glomerular Cell Surface Proteins
09:12

Isolation of Glomeruli and In Vivo Labeling of Glomerular Cell Surface Proteins

Published on: January 18, 2019

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Last Updated: Jun 16, 2026

Induction of Nephrotic Syndrome in Mice by Retrobulbar Injection of Doxorubicin and Prevention of Volume Retention by Sustained Release Aprotinin
07:38

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Published on: May 6, 2018

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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Isolation of Glomeruli and In Vivo Labeling of Glomerular Cell Surface Proteins
09:12

Isolation of Glomeruli and In Vivo Labeling of Glomerular Cell Surface Proteins

Published on: January 18, 2019

Area of Science:

  • Pediatric Nephrology
  • Clinical Genetics
  • Molecular Medicine

Background:

  • Idiopathic nephrotic syndrome (INS) is a common kidney disorder in children.
  • Steroid-sensitive nephrotic syndrome (SSNS) typically responds well to corticosteroid therapy.
  • Atypical presentations of SSNS warrant further investigation into underlying genetic causes.

Purpose of the Study:

  • To report a unique case of nephrotic syndrome in a young child.
  • To investigate the genetic basis of an atypical clinical presentation of nephrotic syndrome.
  • To expand the understanding of the phenotypic spectrum associated with NPHS1 gene variants.

Main Methods:

  • Case report of a 2-year-old girl with nephrotic syndrome.
  • Clinical follow-up over 4 years, including response to therapies.
  • Genetic testing to identify NPHS1 variants.
  • Analysis of variant pathogenicity and functional effects.

Main Results:

  • The patient presented with steroid-sensitive nephrotic syndrome but had recurrent, infection-associated proteinuria.
  • Genetic testing revealed compound heterozygous NPHS1 variants: p.R460Q (loss-of-function) and p.V822M (rare, pathogenic).
  • The clinical course was characterized by incomplete remissions and limited response to immunosuppression, despite preserved renal function.

Conclusions:

  • Novel compound heterozygous NPHS1 variants can lead to an atypical phenotype of steroid-sensitive nephrotic syndrome.
  • This phenotype may include steroid responsiveness, preserved renal function, and recurrent transient proteinuria.
  • Genetic testing is crucial for diagnosing atypical SSNS and guiding management, especially when NPHS1 variants are suspected.