Related Experiment Video

Updated: Jul 12, 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

11.5K

The genetic spectrum of polycystic kidney disease in children

Ayca Kocaaga1, Yesim Özdemir Atikel2, Mehtap Sak3

  • 1Eskisehir City Hospital, Department of Medical Genetics - Eskişehir, Turkey.

Revista Da Associacao Medica Brasileira (1992)
|November 1, 2023
PubMed

Insights

This study identified novel genetic variants in Turkish children with polycystic kidney disease (PKD). These findings enhance the molecular understanding of PKD and aid in clinical diagnosis and prognosis.

Area of Science:

  • Genetics
  • Pediatrics
  • Nephrology

Background:

  • Polycystic kidney disease (PKD) encompasses autosomal dominant and recessive forms, caused by mutations in specific genes.
  • Autosomal recessive PKD presents severely with enlarged kidneys and congenital hepatic fibrosis, linked to PKHD1 gene mutations.
  • Autosomal dominant PKD involves mutations in polycystin-1 or polycystin-2.

Purpose of the Study:

  • To investigate the genetic basis of polycystic kidney disease in Turkish children.
  • To identify novel genetic variants associated with PKD in this pediatric cohort.
  • To contribute to improved clinical diagnosis and prognosis of PKD through molecular characterization.

Main Methods:

  • Retrospective evaluation of 28 children diagnosed with PKD between October 2020 and May 2022.
  • Diagnosis confirmed via family history, ultrasound, and genetic analysis.
  • Comprehensive genetic analysis of polycystin-1 and polycystin-2 genes.

Main Results:

  • Genetic analysis revealed polycystin-1 variants in 13 patients and polycystin-2 variants in 7 patients.
  • Eight novel pathogenic or likely pathogenic variants were identified among 18 total variants in polycystin-1 and polycystin-2.
  • No variants were detected in the PKHD1 gene in any of the studied patients.

Conclusions:

  • The study highlights the molecular genetic landscape of PKD in Turkish children.
  • Novel genetic variations were identified, offering potential for enhanced clinical diagnosis and prognosis.
  • Further research into these variants can refine understanding and management of pediatric PKD.
Abstract

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

9.8K
Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease12:47

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

Published on: February 3, 2012

38.5K

Related Concept Videos

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...
2.6K
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 kidney disease (ESKD). 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...
17
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,...
254
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...
8
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
Karyotyping01:17

Karyotyping

Overview
61.4K