Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Lysosomal Hydrolases

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...

Rheumatic Heart Disease I: Introduction

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...

Cystic Fibrosis: Pathogenesis

Cystic Fibrosis: Pathogenesis

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,...

Fibril-associated Collagen

Fibril-associated Collagen

Fibril-associated collagens are a type of collagens present in the extracellular matrix with interrupted triple helices or FACIT (Fibril-associated collagens interrupted triple-helices). FACIT help connect and attach the collagen fibrils with each other as well as with other proteins of the extracellular matrix.
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...

Chronic Kidney Disease II: Clinical Manifestations

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...

Renal Corpuscle

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...

You might also read

Related Articles

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

Sort by

Same author

Histoplasmosis in kidney transplant recipients.

BMC nephrology·2026

Same author

Influence of Vimentin and E-cadherin on the development of interstitial fibrosis in focal and segmental glomerulosclerosis - FSGS.

Tissue & cell·2026

Same author

Histoplasma capsulatum: a rare cause of interstitial nephritis.

Kidney international·2026

Same author

MicroRNAs and peritoneal dialysis.

Jornal brasileiro de nefrologia·2025

Same author

Intestinal immunopathological evaluation of mice reinfected with Trypanosoma cruzi Y strain.

PLoS neglected tropical diseases·2025

Same author

A randomized controlled trial of cutting balloons versus conventional angioplasty in arteriovenous fistula stenosis.

The journal of vascular access·2025

Search research articles

Related Experiment Video

Updated: Mar 17, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Renal involvement in Fabry disease.

Hugo Abensur¹, Marlene Antônia Dos Reis²

¹Universidade de São Paulo, Brazil.

Jornal Brasileiro De Nefrologia

|July 21, 2016

Summary

Fabry disease causes globotriaosylceramide accumulation due to a genetic mutation, leading to organ damage. Enzyme replacement therapy can slow kidney disease progression, particularly when started early.

Area of Science:

Biochemistry
Genetics
Nephrology

Background:

Fabry disease is a rare genetic disorder caused by mutations in the alpha-galactosidase A gene.
This leads to the accumulation of globotriaosylceramide (Gb3) in cells throughout the body.
Gb3 accumulation particularly affects renal cells, causing progressive kidney damage.

Purpose of the Study:

To summarize the pathophysiology and clinical manifestations of Fabry disease.
To outline diagnostic methods for Fabry disease.
To discuss the role of enzyme replacement therapy in managing renal complications.

Main Methods:

Review of existing literature on Fabry disease.
Analysis of clinical features and diagnostic criteria.

More Related Videos

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Published on: January 19, 2017

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Related Experiment Videos

Last Updated: Mar 17, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Published on: January 19, 2017

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Evaluation of treatment outcomes for enzyme replacement therapy.

Main Results:

Fabry disease presents with diverse clinical symptoms including angiokeratomas, neuropathic pain, and significant renal involvement.
Renal pathology involves Gb3 deposition in podocytes, leading to proteinuria and impaired glomerular and tubular function.
Diagnosis relies on measuring alpha-galactosidase activity and genetic testing.
Enzyme replacement therapy has shown efficacy in slowing the progression of kidney disease.

Conclusions:

Fabry disease is a multisystemic lysosomal storage disorder with severe renal consequences.
Early diagnosis and timely initiation of enzyme replacement therapy are crucial for mitigating kidney damage.
Continued research is needed to further optimize treatment strategies for Fabry disease.