Related Experiment Video

Updated: Nov 18, 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

11.7K

Autosomal Recessive Polycystic Kidney Disease-The Clinical Aspects and Diagnostic Challenges

Dorota Wicher1, Łukasz Obrycki2, Irena Jankowska3

  • 1Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.

Journal of Pediatric Genetics
|February 8, 2021
PubMed

Insights

Autosomal recessive polycystic kidney disease (ARPKD) diagnosis in children is complex due to its varied symptoms. Genetic testing is crucial for identifying the molecular basis and aiding differential diagnosis.

Area of Science:

  • Pediatric Nephrology
  • Medical Genetics
  • Ciliopathies

Background:

  • Autosomal recessive polycystic kidney disease (ARPKD) is a common ciliopathy affecting kidneys and liver.
  • Clinical manifestations include nephromegaly, hypertension, renal dysfunction, congenital hepatic fibrosis, and neurocognitive impairment.
  • A multidisciplinary approach is necessary for managing ARPKD patients.

Purpose of the Study:

  • To discuss the role of genetic testing in diagnosing ARPKD in children.
  • To highlight the challenges associated with genetic testing for ARPKD.

Main Methods:

  • Review of current diagnostic criteria for ARPKD.
  • Analysis of the utility and limitations of genetic testing in pediatric ARPKD cases.

Main Results:

  • Genetic testing reveals the molecular heterogeneity of ARPKD.
  • Differential diagnosis is essential due to overlapping clinical features.
  • Genetic testing is becoming indispensable for accurate ARPKD diagnosis.

Conclusions:

  • Genetic testing plays a pivotal role in the accurate diagnosis of ARPKD in children.
  • Overcoming diagnostic challenges requires understanding the genetic basis of ARPKD.
  • Genetic insights are vital for improving patient care and management strategies.

Keywords:
autosomal recessive polycystic kidney diseasecongenital hepatic fibrosisnext-generation sequencing

More Related Videos

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

10.0K
Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay08:13

Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay

Published on: February 20, 2015

13.6K

Related Concept Videos

Chronic Kidney Disease I: Introduction01:25

Chronic Kidney Disease I: Introduction

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...
353
Chronic Kidney Disease III: Interprofessional Care01:28

Chronic Kidney Disease III: Interprofessional Care

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...
204
Chronic Kidney Disease II: Clinical Manifestations01:24

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...
337
Nephrons01:10

Nephrons

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...
5.1K
Cystic Fibrosis: Pathogenesis01:23

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,...
550
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
266