Related Experiment Video
Updated: Jan 16, 2026
05:34
5/6 Nephrectomy Using Sharp Bipolectomy Via Midline Laparotomy in Rats
Published on: April 4, 2025
1.5K
Nationwide Insights Into Genetic Testing Awareness, Availability, Utilization Challenges in Children With Chronic
Ibrahim Sandokji1, Mohammad Shalaby2, Hasan Aljefri2
1Pediatric Department, College of Medicine, Taibah University, Madinah, Saudi Arabia.
Clinical Pediatrics
|October 5, 2025
Summary
Pediatric nephrologists find genetic testing available but face challenges with interpretation and cost. Increased awareness and financial support are needed for wider use in diagnosing pediatric kidney diseases.
Area of Science:
- Pediatric Nephrology
- Clinical Genetics
- Genomic Medicine
Background:
- Genetic testing is crucial for diagnosing pediatric kidney diseases by identifying causative mutations.
- Widespread clinical implementation of genetic testing faces several barriers.
- Understanding pediatric nephrologists' perspectives on genetic testing is essential.
Purpose of the Study:
- To evaluate the current utilization of genetic testing in pediatric nephrology.
- To assess the perceptions and identify barriers to genetic testing among pediatric nephrologists.
Main Methods:
- A nationwide survey was conducted among pediatric nephrologists.
- The survey covered genetic testing availability, perceptions, modalities, indications, and barriers.
- Data from 40 completed surveys were analyzed.
Main Results:
- Over 60% of institutions offer genetic testing, with whole exome sequencing being the most common modality.
- Financial constraints and provider awareness were identified as primary barriers.
- Glomerulopathies, tubulopathies, and ciliopathies were the most frequent indications for genetic testing.
Conclusions:
- Genetic testing is available in most pediatric nephrology centers.
- Pediatric nephrologists encounter difficulties in interpreting genetic test results.
- Addressing financial barriers and enhancing provider knowledge are key to improving genetic testing adoption.
Related Concept Videos
01:28Chronic Kidney Disease III: Interprofessional Care
339
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...
339
01:25Chronic Kidney Disease I: Introduction
560
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...
560
01:24Chronic Kidney Disease II: Clinical Manifestations
552
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...
552
01:28Kidney Transplant I: Introduction
340
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...
340
01:30Acute Kidney Injury IV: Diagnostic Studies and Prevention
260
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...
260
01:28Drug Dosing in Renal Diseases: Estimation of Glomerular Filtration Rate Based on Serum Creatinine Concentration
189
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.
189