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

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

1.0K
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,...
1.0K
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

4.7K
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,...
4.7K
Ultrasound II: Endoscopic Ultrasound and FibroScan01:25

Ultrasound II: Endoscopic Ultrasound and FibroScan

1.0K
Endoscopic Ultrasound (EUS) and FibroScan are valuable diagnostic tools in gastroenterology and hepatology, each with specific applications and techniques.
Endoscopic Ultrasound (EUS):
1.0K
Amyloid Fibrils03:03

Amyloid Fibrils

12.8K
Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining,...
12.8K
Imaging Studies VI: Voiding Cystourethrography and Cystography01:22

Imaging Studies VI: Voiding Cystourethrography and Cystography

3.4K
Voiding Cystourethrography (VCUG) and Cystography are specialized radiographic procedures used to examine the structure and function of the bladder and urethra.Voiding Cystourethrography (VCUG)A Voiding Cystourethrogram (VCUG) is a diagnostic imaging procedure that assesses the anatomy and function of the lower urinary tract. It focuses on the bladder, bladder neck, and urethra, helping detect abnormalities such as vesicoureteral reflux (VUR)—the backward or reverse flow of urine into the...
3.4K

You might also read

Related Articles

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

Sort by
Same author

Clinical Manifestations.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2025
Same author

Molecular Diagnosis in Hymenoptera Allergy: Comparison of Euroline DPA-Dx and ImmunoCAP.

Toxins·2025
Same author

Acute fascioliasis in a returning traveller from Ethiopia.

Journal of travel medicine·2024
Same author

ONCOS-102 plus pemetrexed and platinum chemotherapy in malignant pleural mesothelioma: a randomized phase 2 study investigating clinical outcomes and the tumor microenvironment.

Journal for immunotherapy of cancer·2023
Same author

Impact of thoracic endovascular aortic repair following blunt traumatic thoracic aortic injury on blood pressure.

The Journal of thoracic and cardiovascular surgery·2023
Same author

Role of light chain clearance in the recovery of renal function in multiple myeloma: another point of view.

Clinical kidney journal·2023

Related Experiment Video

Updated: Mar 22, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

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

Published on: December 20, 2017

8.6K

Multiple parapelvic cysts in Fabry disease.

María A Azancot1, Josefa Vila1, Carmen Domínguez2

  • 1Servicio de Nefrología, Hospital Universitari Vall d'Hebron, Barcelona, España.

Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia
|April 11, 2016
PubMed
Summary

Fabry disease, a genetic disorder, can present atypically. This case highlights parapelvic cysts and renal failure as key indicators, aiding diagnosis in the absence of typical skin lesions.

Keywords:
De novo mutationEnfermedad de FabryFabry diseaseMutación de novoParapelvic cystsQuistes parapiélicos

More Related Videos

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
05:56

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

Published on: August 29, 2025

676
Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis
07:56

Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis

Published on: June 10, 2022

3.3K

Related Experiment Videos

Last Updated: Mar 22, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

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

Published on: December 20, 2017

8.6K
Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
05:56

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

Published on: August 29, 2025

676
Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis
07:56

Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis

Published on: June 10, 2022

3.3K

Area of Science:

  • Genetics
  • Biochemistry
  • Nephrology

Background:

  • Fabry disease is an X-linked lysosomal storage disorder due to alpha-galactosidase A deficiency, causing glycosphingolipid accumulation.
  • Low disease prevalence and index of suspicion often lead to delayed diagnosis and treatment.

Observation:

  • A male patient with Fabry disease presented with multiple parapelvic cysts and renal failure.
  • The patient lacked the characteristic angiokeratoma lesions typically associated with Fabry disease.

Findings:

  • Genetic analysis identified a novel alpha-galactosidase A gene mutation.
  • This mutation was confirmed as de novo, absent in relatives and not passed to offspring.

Implications:

  • Peculiar parapelvic cysts can be a diagnostic clue for Fabry disease, even without typical skin manifestations.
  • Early identification of novel mutations is crucial for understanding disease heterogeneity and improving diagnostic strategies.