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Polycystic kidney disease: <>
J P Grünfeld1, D Chauveau, D Joly
1Service de Néphrologie, Hôpital Necker, Paris, France.
Journal of Nephrology
|February 25, 2000
Summary
Significant advancements in autosomal dominant polycystic kidney disease (ADPKD) diagnosis and management have been made. While gene defects are identified, the link to cyst formation and progression in ADPKD remains unclear.
Area of Science:
- Nephrology
- Medical Imaging
- Molecular Genetics
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is a major genetic disorder.
- Significant progress in understanding ADPKD has been made over the last 30 years.
- Imaging and genetic advancements have been crucial in ADPKD research.
Purpose of the Study:
- To review the progress in diagnosis and management of ADPKD.
- To highlight the advancements in imaging modalities for ADPKD.
- To discuss the genetic discoveries and their implications in ADPKD.
Main Methods:
- Review of diagnostic imaging techniques including ultrasonography, CT scan, and MRI-angiography.
- Overview of genetic studies identifying PKD1 and PKD2 genes.
- Discussion of current models of cyst formation in ADPKD.
Main Results:
- Imaging procedures have become decisive for ADPKD diagnosis, management of complications, and investigation of intracranial aneurysms.
- Identification of PKD1 and PKD2 genes and their products, polycystin 1 and 2.
- A two-hit model for cyst formation has been proposed, but the link to cyst progression is unknown.
Conclusions:
- While genetic defects in ADPKD are known, the mechanisms of cyst formation and progression are still under investigation.
- The coexistence of cystic and non-cystic lesions suggests the primary molecular defect in ADPKD occurs upstream of cystogenesis.
- Further research is needed to elucidate the link between gene defects and cyst development in ADPKD.