Related Experiment Video
Updated: Aug 8, 2026
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
Optimal care of autosomal dominant polycystic kidney disease patients
1Division of Renal Diseases and Hypertension, Department of Medicine, University of Colorado School of Medicine, Denver, CO 80262, USA. Robert.Schrier@uchsc.edu
Insights
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder. While genetic research has advanced, effective therapies are still needed, though hypertension management shows promise for slowing disease progression.
Area of Science:
- Genetics and Molecular Biology
- Nephrology
- Hereditary Diseases
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent life-threatening hereditary condition.
- Its prevalence surpasses that of several other genetic disorders combined.
- Recent years have seen progress in understanding ADPKD's genetic and molecular underpinnings.
Purpose of the Study:
- To review recent advances in ADPKD genetics, diagnosis, and treatment.
- To highlight the genetic basis of ADPKD, including PKD1 and PKD2 mutations.
- To discuss the potential of current therapeutic strategies, particularly hypertension management.
Main Methods:
- Review of genetic localization studies for PKD1 and PKD2 genes.
- Analysis of associated polycystin proteins.
- Examination of diagnostic and therapeutic strategies for ADPKD and its complications.
Main Results:
- PKD1 gene on chromosome 16 accounts for ~85% of ADPKD cases, linked to polycystin-1.
- PKD2 gene on chromosome 4 accounts for ~15% of ADPKD cases, linked to polycystin-2.
- Early hypertension treatment with renin-angiotensin-aldosterone system inhibitors may slow renal disease progression and prevent cardiac complications.
Conclusions:
- Significant advancements in understanding ADPKD genetics and molecular biology have been made.
- Therapeutic strategies directly targeting ADPKD morbidity and mortality are still under development.
- Early diagnosis and management of hypertension are crucial for mitigating ADPKD complications and slowing disease progression.
Abstract:
Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening, hereditary disease. The prevalence of ADPKD is more common than Huntington disease, haemophilia, sickle cell disease, cystic fibrosis, myotonic dystrophy and Down syndrome combined. In recent years there have not only been advances in the understanding of the genetic and molecular events involved in ADPKD, but some diagnostic and therapeutic advances have also emerged. In the genetics area, the gene for PKD1 was localised to chromosome 16, is associated with polycystin-2 protein, and found to account for approximately 85% of patients with ADPKD. The gene for PKD2, found in chromosome 4, accounts for approximately 15% of ADPKD, and is associated with the polycystin-2 protein. While these genetic and molecular biology findings have stimulated a great deal of exciting basic research in ADPKD, therapies to decrease morbidity and mortality in ADPKD patients have yet to emerge from these findings. In contrast, the early diagnosis and treatment of hypertension with inhibitors of the renin-angiotensin-aldosterone system have the potential to decrease or prevent left ventricular hypertrophy cardiac complications and slow the progression of the renal disease.
Related Concept Videos
01:28Chronic Kidney Disease III: Interprofessional Care
01:18Chronic Kidney Disease IV: Nursing Management
01:20Acute Kidney Injury V: Interprofessional Care
01:24Nephrotic Syndrome III : Nursing Management
01:25Chronic Kidney Disease I: Introduction
01:30Acute Kidney Injury IV: Diagnostic Studies and Prevention