Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Renal Tubule and Collecting Duct01:24

Renal Tubule and Collecting Duct

1.2K
The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
1.2K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

321
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
321
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

17
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...
17
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

57
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
57
Glucose Transporters01:27

Glucose Transporters

23.9K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
23.9K
Chronic Kidney Disease I: Introduction01:25

Chronic Kidney Disease I: Introduction

53
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...
53

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Reno-ocular syndromes: pathophysiological mechanisms linking kidney and ocular disorders.

Pediatric nephrology (Berlin, Germany)·2026
Same author

Duchenne Muscular Dystrophy and Delandistrogene Moxeparvovec Gene Therapy in Children: A Systematic Review and Meta-Analysis.

Neurology. Genetics·2026
Same author

Congenital cytomegalovirus screening by dried blood spot: a systematic review.

European journal of pediatrics·2026
Same author

Point-of-Care Ultrasound for Pediatric Urethral Catheterization: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

Academic emergency medicine : official journal of the Society for Academic Emergency Medicine·2026
Same author

COVID-19 Vaccine Effectiveness in Individuals with Alcohol and Tobacco Use Disorders: A Propensity Score-Matched Study Using Nationwide Brazilian Data.

Vaccines·2026
Same author

Effectiveness of COVID-19 Vaccine Boosters in Children Across Pandemic and Endemic Periods.

Microorganisms·2026

Related Experiment Video

Updated: Aug 12, 2025

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells
09:40

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells

Published on: June 20, 2018

17.7K

Inherited Fanconi syndrome.

Anna Luiza Braga Albuquerque1, Rafael Dos Santos Borges1, Ana Flávia Conegundes1

  • 1Interdisciplinary Laboratory of Medical Investigation, Unit of Pediatric Nephrology, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil.

World Journal of Pediatrics : WJP
|February 2, 2023
PubMed
Summary

Fanconi renotubular syndrome (FRST) impacts kidney function by impairing proximal convoluted tubule reabsorption. Early diagnosis and tailored treatment in children are crucial for improving outcomes and quality of life.

Keywords:
CystinosisFanconi renotubular syndromeFanconi syndromeFanconi-Debrè-de Toni syndromeProximal tubuleRenal tubular transportRickets

More Related Videos

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.8K
Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

9.8K

Related Experiment Videos

Last Updated: Aug 12, 2025

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells
09:40

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells

Published on: June 20, 2018

17.7K
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.8K
Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

9.8K

Area of Science:

  • Nephrology
  • Pediatric Nephrology
  • Molecular Biology

Background:

  • Fanconi renotubular syndrome (FRST), also known as Fanconi-Debré-de Toni syndrome, is a condition affecting the proximal convoluted tubule (PCT).
  • FRST significantly advanced the understanding of PCT function and kidney disease pathophysiology.
  • It offers insights into drug toxicities impacting renal function.

Purpose of the Study:

  • To review the physiology of the proximal convoluted tubule (PCT).
  • To discuss the physiopathology, diagnosis, and treatment of Fanconi renotubular syndrome (FRST) in pediatric patients.
  • To highlight the challenges and importance of identifying the underlying etiology of FRST.

Main Methods:

  • Literature search of Pubmed and Scopus databases.
  • Systematic review of relevant articles on Fanconi renotubular syndrome (FRST).
  • Focus on pediatric cases and associated systemic disorders.

Main Results:

  • FRST involves inherited and acquired PCT alterations impairing reabsorption.
  • In children, FRST is often secondary to systemic disorders affecting energy metabolism.
  • Congenital FRST causes significant morbidity and mortality, presenting diagnostic challenges.

Conclusions:

  • Early diagnosis of pediatric FRST is essential.
  • Prompt and accurate treatment, guided by etiology, improves patient prognosis.
  • Effective management enhances the quality of life for children with FRST.