Autosomal-dominant polycystic kidney disease in infancy and childhood: progression and outcome

Related Experiment Video

Updated: Aug 15, 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

Alireza Abdollah Shamshirsaz1, Abdollah Shamshirsaz, Mir Reza Bekheirnia

  • 1Division of Renal Diseases and Hypertension, Department of Medicine, University of Colorado School of Medicine, Denver, 80262, USA.

Kidney International
|October 14, 2005
PubMed

Insights

Autosomal-dominant polycystic kidney disease (ADPKD) in very early onset (VEO) children shows a more optimistic outlook than previously thought. Most VEO children maintain good kidney function throughout childhood, with a low rate of end-stage renal disease.

Area of Science:

  • Pediatric Nephrology
  • Genetics
  • Renal Medicine

Background:

  • The natural history of autosomal-dominant polycystic kidney disease (ADPKD) in pediatric populations, particularly infants and young children, remains incompletely understood.
  • Limited data exists on the long-term outcomes and disease progression for very early onset (VEO) ADPKD.

Purpose of the Study:

  • To describe the clinical characteristics and natural history of ADPKD in children diagnosed before 18 months of age (VEO) compared to older children.
  • To identify factors associated with disease severity and progression in pediatric ADPKD patients.

Main Methods:

  • Retrospective analysis of 46 VEO ADPKD children (diagnosed <18 months) and 153 non-VEO ADPKD children (diagnosed 18 months - 18 years).
  • Comparison of cyst burden, renal volume, blood pressure, urinalysis findings (hematuria, proteinuria), and end-stage renal disease (ESRD) development.

Main Results:

  • VEO children exhibited larger renal volumes and more cysts compared to non-VEO children, adjusted for age.
  • Hematuria, proteinuria, and presence of symptoms at diagnosis correlated with larger renal volumes in both groups.
  • VEO children and those diagnosed due to symptoms had a higher likelihood of hypertension. Two VEO children progressed to ESRD during follow-up.

Conclusions:

  • Contrary to some reports, the study presents an optimistic outlook for VEO ADPKD, with over 90% maintaining preserved renal function into childhood.
  • Early diagnosis or symptom-driven diagnosis in pediatric ADPKD is associated with increased risk of hypertension and larger renal volumes.
  • While ESRD can occur in VEO ADPKD, the overall prognosis appears more favorable than previously suggested by case reports.
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

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

Related Concept Videos

Diabetic Nephropathy01:28

Diabetic Nephropathy

Definition Diabetic nephropathy is a chronic kidney complication that results from prolonged hyperglycemia.Prevalence It is the most common cause of chronic kidney disease (CKD) and end-stage renal disease (ESRD) worldwide, affecting up to half of individuals with diabetes.Pathophysiology • Sustained hyperglycemia triggers multiple hemodynamic and metabolic changes in the kidney. • Early in the disease, increased renal blood flow and glomerular hyperfiltration occur due to afferent arteriolar...
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 happens...
Acute Kidney Injury III: Clinical Manifestations01:29

Acute Kidney Injury III: Clinical Manifestations

Acute Kidney Injury (AKI) progresses through distinct clinical phases: the oliguric, diuretic, and recovery phases, each marked by unique manifestations and challenges.Oliguric Phase:The oliguric phase is the initial stage of AKI, typically lasting 10 to 14 days. This phase is marked by a significant reduction in urine output, usually less than 400 mL per day, indicating decreased kidney function. Fluid retention is a prominent feature, leading to symptoms such as edema, hypertension, and...
Pharmacokinetics in Pediatric Patients: Drug Excretion01:26

Pharmacokinetics in Pediatric Patients: Drug Excretion

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...
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...
Acute Kidney Injury I: Introduction01:22

Acute Kidney Injury I: Introduction

Introduction:Acute Kidney Injury (AKI) describes a swift decrease in kidney function occurring over hours to days, characterized by the kidneys' failure to remove waste products from the bloodstream. This leads to dangerous complications like metabolic acidosis, fluid overload, and electrolyte imbalances, such as hyperkalemia, which can cause life-threatening arrhythmias. AKI is common in both hospital and outpatient settings, often triggered by dehydration, sepsis, or exposure to nephrotoxic...