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

Kidney Transplant I: Introduction01:28

Kidney Transplant I: Introduction

272
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...
272
Pharmacokinetics in Pediatric Patients: Drug Excretion01:26

Pharmacokinetics in Pediatric Patients: Drug Excretion

159
In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...
159
Chronic Kidney Disease III: Interprofessional Care01:28

Chronic Kidney Disease III: Interprofessional Care

281
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...
281
Acute Kidney Injury IV: Diagnostic Studies and Prevention01:30

Acute Kidney Injury IV: Diagnostic Studies and Prevention

217
Accurate diagnosis and effective prevention are critical in managing Acute Kidney Injury (AKI), which is linked to high mortality rates ranging from 10% to 80%. Timely recognition of at-risk patients and careful monitoring can significantly reduce the likelihood of kidney damage.Diagnostic Assessments:The diagnostic process starts with a comprehensive medical history to identify prerenal, intrarenal, and postrenal causes.Prerenal causes, such as dehydration, hypotension, or blood loss, should...
217
Drug Dosing in Renal Diseases: Estimation of Glomerular Filtration Rate Based on Serum Creatinine Concentration01:28

Drug Dosing in Renal Diseases: Estimation of Glomerular Filtration Rate Based on Serum Creatinine Concentration

124
Glomerular filtration rate (GFR) can be estimated from serum creatinine using the modification of diet in renal disease (MDRD) formula or the chronic kidney disease–epidemiology collaboration (CKD–EPI) equation. Both methods are widely used in clinical practice to assess kidney function and guide treatment decisions.The MDRD equation does not require weight or height measurements and is normalized to the body surface area of 1.73 m², considered the average adult surface area.
124
Chronic Kidney Disease I: Introduction01:25

Chronic Kidney Disease I: Introduction

490
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...
490

You might also read

Related Articles

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

Sort by
Same author

Organic Acidemias in India: Clinical and Molecular Spectrum.

Indian journal of pediatrics·2026
Same author

Position Statement of the Indian Academy of Medical Genetics on Cytogenetic and Molecular Cytogenetic Testing.

Indian journal of pediatrics·2026
Same author

Genetic Etiology in Children with Progressive Neuroregression.

Indian journal of pediatrics·2026
Same author

Molecular Landscape of Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency in India.

Indian journal of pediatrics·2026
Same author

Binder Phenotype: Evaluating the Utility and Influence of Genetic Results on Parental Decision Making in Antenatally Diagnosed Cases.

American journal of medical genetics. Part A·2026
Same author

Unusual Dual Fungal Infection in STAT1 Gain-of-Function CMC: Clinical and Mycological Insights.

International journal of dermatology·2025

Related Experiment Video

Updated: Dec 28, 2025

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

11.9K

Genetic Testing in Pediatric Kidney Disease.

Veronica Arora1, Kanav Anand2, Ishwar Chander Verma3

  • 1Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.

Indian Journal of Pediatrics
|February 15, 2020
PubMed
Summary

Genetic testing is crucial for diagnosing pediatric kidney disorders, revealing that monogenic causes account for 30% of chronic cases. This aids in classification, prognosis, and treatment for conditions like nephrotic syndrome.

Keywords:
Alport syndromeAtypical hemolytic uremic syndromeCAKUTGenetic disordersGenetic testingNext gene sequencingPediatric kidney diseaseRTASRNSTubulopathies

More Related Videos

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

39.1K
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

13.7K

Related Experiment Videos

Last Updated: Dec 28, 2025

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

11.9K
Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

39.1K
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

13.7K

Area of Science:

  • Pediatric Nephrology
  • Medical Genetics
  • Genomic Medicine

Background:

  • Next-generation sequencing has revealed numerous monogenic causes for pediatric kidney disorders.
  • Genetic disorders are now understood to contribute to approximately 30% of pediatric chronic renal diseases.

Purpose of the Study:

  • To review new genetic technologies and their benefits for pediatric kidney disease diagnosis.
  • To outline indications for genetic testing across various pediatric kidney conditions.

Main Methods:

  • Literature review of genetic technologies and their application in pediatric nephrology.
  • Synthesis of current knowledge on genetic testing for specific kidney diseases.

Main Results:

  • Identified key genetic disorders including steroid-resistant nephrotic syndrome (SRNS), congenital anomalies, cystic diseases, tubulopathies, and syndromic conditions.
  • Highlighted the role of genetic testing in classifying, predicting prognosis, and guiding treatment for pediatric kidney diseases.

Conclusions:

  • Genetic testing is essential for accurate diagnosis and management of pediatric kidney disorders.
  • Encourages pediatricians to utilize genetic investigations for improved patient care and genetic counseling.