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

Chronic Kidney Disease III: Interprofessional Care01:28

Chronic Kidney Disease III: Interprofessional Care

503
Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...
503
Nephrons01:10

Nephrons

7.5K
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...
7.5K
Chronic Kidney Disease I: Introduction01:25

Chronic Kidney Disease I: Introduction

820
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...
820
Renal Corpuscle01:20

Renal Corpuscle

7.8K
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...
7.8K
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

758
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...
758
Kidney Transplant I: Introduction01:28

Kidney Transplant I: Introduction

552
A kidney transplant is a surgical approach that involves replacing a non-functioning kidney with a healthy one from a donor. This procedure is often a treatment option for end-stage renal disease (ESRD) patients. The method requires careful recipient selection, including evaluating various medical and psychosocial factors. These criteria vary between transplant centers but generally include assessments of the patient's overall health, adherence to medical recommendations, and lifestyle...
552

You might also read

Related Articles

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

Sort by
Same author

Complete clearance of high-impact sites with risankizumab in patients with psoriasis: a 2-year real-world retrospective multicenter cohort study.

The Journal of dermatological treatment·2026
Same author

Haemolytic Uraemic Syndrome Triggered by Non-Shiga Toxin-Producing Enteropathogenic Escherichia coli in a Child: Difficulties in Diagnosis and Treatment.

Cureus·2026
Same author

Reply.

The Journal of allergy and clinical immunology·2026
Same author

Risankizumab super responders in moderate-to-severe psoriasis: prevalence, predictors, and long-term maintenance in a multicenter, international, real-world cohort.

The Journal of dermatological treatment·2026
Same author

Clinical Trial Eligibility in Atopic Dermatitis: Data from a Large Real-World International Cohort.

Dermatology and therapy·2026
Same author

Real-World Evidence on Dose Spacing of Risankizumab for Psoriasis: A Multicenter Retrospective Cohort Study.

Dermatology and therapy·2025

Related Experiment Video

Updated: Feb 21, 2026

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
07:35

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

12.1K

Beyond polycystic kidney disease.

Susana Franco Santos1, Telma Francisco1, Ana Isabel Cordeiro1

  • 1Department of Pediatrics, Hospital Dona Estefânia, CHLC, Lisboa, Portugal.

BMJ Case Reports
|October 6, 2017
PubMed
Summary

Tuberous sclerosis (TS) and autosomal dominant polycystic kidney disease can co-occur due to a rare contiguous gene deletion. Genetic testing confirmed this TSC2/PKD1 Contiguous Gene Syndrome in a 13-year-old girl.

Keywords:
dermatologygeneticsneuroimagingrenal medicine

More Related Videos

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

10.3K
Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay
08:13

Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay

Published on: February 20, 2015

13.9K

Related Experiment Videos

Last Updated: Feb 21, 2026

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
07:35

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

12.1K
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

10.3K
Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay
08:13

Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay

Published on: February 20, 2015

13.9K

Area of Science:

  • Genetics
  • Dermatology
  • Nephrology

Background:

  • Tuberous sclerosis (TS) is an autosomal dominant disorder caused by mutations in TSC1 or TSC2 genes.
  • The TSC2 gene is located on chromosome 16p13.3, near the PKD1 gene, which causes autosomal dominant polycystic kidney disease (ADPKD).
  • A rare deletion affecting both TSC2 and PKD1 genes results in TSC2/PKD1-Contiguous Gene Syndrome, presenting early-onset ADPKD and TS features.

Observation:

  • A 13-year-old girl presented with bilateral renal cysts identified at 9 months old.
  • She later developed facial erythema, malar distribution of fibroadenomas, and hypomelanotic macules, meeting TS diagnostic criteria.
  • These clinical signs suggested a TSC2/PKD1 Contiguous Gene Syndrome deletion.

Findings:

  • Genetic testing confirmed the suspected TSC2/PKD1 Contiguous Gene Syndrome deletion.
  • This diagnosis explains the co-occurrence of early-onset ADPKD and TS phenotypic manifestations in the patient.

Implications:

  • This case highlights the importance of considering contiguous gene deletions in patients with overlapping symptoms of TS and ADPKD.
  • Early diagnosis through genetic testing allows for timely management and monitoring of both conditions.
  • Understanding these genetic interactions improves diagnostic accuracy and patient care for rare genetic syndromes.