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

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...
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...
Renal Corpuscle01:20

Renal Corpuscle

The glomerulus and Bowman's capsule are two essential components of the nephron, which is the functional unit of the kidney. These microscopic structures play a critical role in the process of blood filtration to produce urine.
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous capillaries...
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

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...
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 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...

You might also read

Related Articles

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

Sort by
Same author

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

Nature communications·2026
Same author

Autosomal Dominant Tubulointerstitial Kidney Disease: My Kingdom for a Biomarker.

Journal of the American Society of Nephrology : JASN·2026
Same author

After the Diagnosis.

Advances in kidney disease and health·2026
Same author

Thin Glomerular Basement Membrane Phenotypes With No Identified Pathogenic <i>COL4A3/A4/A5</i> Variant.

Kidney international reports·2026
Same author

Autosomal Dominant Tubulointerstitial Kidney Disease: Approach to Diagnosis.

Advances in kidney disease and health·2026
Same author

Correction to: Safety and Efficacy of Tenapanor for Long-term Serum Phosphate Control in Maintenance Dialysis: A 52-Week Randomized Phase 3 Trial (PHREEDOM).

Kidney360·2026

Related Experiment Video

Updated: Jun 6, 2026

An Immature Murine Model of Reversible Unilateral Ureteral Obstruction
06:37

An Immature Murine Model of Reversible Unilateral Ureteral Obstruction

Published on: April 4, 2025

Uromodulin-associated kidney disease.

Anthony J Bleyer1, Martina Zivná, Stanislav Kmoch

  • 1Section on Nephrology, Wake Forest University School of Medicine, Medical Center Boulevard, Winston-Salem, N.C. 27157, USA. ableyer@wfubmc.edu

Nephron. Clinical Practice
|November 13, 2010
PubMed
Summary
This summary is machine-generated.

Mutations in the UMOD gene cause inherited kidney disease, hyperuricemia, and gout. UMOD gene variations also increase chronic kidney disease risk, highlighting uromodulin's role in kidney health.

More Related Videos

Quantitative Real-Time PCR Evaluation of microRNA Expressions in Mouse Kidney with Unilateral Ureteral Obstruction
07:36

Quantitative Real-Time PCR Evaluation of microRNA Expressions in Mouse Kidney with Unilateral Ureteral Obstruction

Published on: August 27, 2020

Unilateral Ureteral Obstruction Model for Investigating Kidney Interstitial Fibrosis
04:37

Unilateral Ureteral Obstruction Model for Investigating Kidney Interstitial Fibrosis

Published on: April 25, 2025

Related Experiment Videos

Last Updated: Jun 6, 2026

An Immature Murine Model of Reversible Unilateral Ureteral Obstruction
06:37

An Immature Murine Model of Reversible Unilateral Ureteral Obstruction

Published on: April 4, 2025

Quantitative Real-Time PCR Evaluation of microRNA Expressions in Mouse Kidney with Unilateral Ureteral Obstruction
07:36

Quantitative Real-Time PCR Evaluation of microRNA Expressions in Mouse Kidney with Unilateral Ureteral Obstruction

Published on: August 27, 2020

Unilateral Ureteral Obstruction Model for Investigating Kidney Interstitial Fibrosis
04:37

Unilateral Ureteral Obstruction Model for Investigating Kidney Interstitial Fibrosis

Published on: April 25, 2025

Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Uromodulin (Tamm-Horsfall glycoprotein) is the most abundant urinary protein, but its precise function is largely unknown.
  • Mutations in the UMOD gene lead to reduced uromodulin synthesis, abnormal protein accumulation in tubular cells, and subsequent tubular cell death.

Purpose of the Study:

  • To review uromodulin biology and the clinical spectrum of UMOD gene mutations.
  • To discuss inherited interstitial diseases with similar clinical presentations.
  • To present new findings on UMOD gene polymorphisms and their association with chronic kidney disease.

Main Methods:

  • Literature review of uromodulin biology and UMOD gene mutations.
  • Analysis of clinical data from patients with UMOD-related disorders.
  • Examination of genetic polymorphisms in the UMOD gene and their correlation with chronic kidney disease risk.

Main Results:

  • UMOD gene mutations cause autosomal dominant chronic interstitial kidney disease, often requiring renal replacement therapy.
  • Individuals with UMOD mutations frequently develop childhood hyperuricemia and adolescent gout.
  • UMOD gene polymorphisms are associated with increased urinary uromodulin excretion and elevated risk for chronic kidney disease.

Conclusions:

  • UMOD gene mutations result in a distinct inherited kidney disease characterized by tubular dysfunction and hyperuricemia.
  • UMOD gene polymorphisms represent a significant genetic risk factor for the development of chronic kidney disease.
  • Further research into uromodulin's role is crucial for understanding and treating inherited kidney disorders.