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Cystic kidney diseases
M D Griffin1, V E Torres, R Kumar
1Nephrology Research Unit, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA.
Abstract:
The goal of understanding the primary defects that lead to renal cystic diseases has proved to be an elusive one, despite 3 decades of physiologic and genetic investigation. Within the past 2 years the genes responsible for type 1 and type 2 autosomal dominant polycystic kidney disease have been identified. The process of defining the normal distribution and functions of the proteins encoded by these genes as well as the precise pathophysiology of cystogenesis is underway. For other major hereditary cystic kidney diseases, chromosomal localization or gene identification has also been achieved in recent years. Mouse and rat models of renal cystic disease continue to be a rich source of new data on the effect of genetic and environmental modifying factors on disease progression as well as serving as a preliminary testing ground for novel approaches to management such as gene therapy and early dietary modification. Ongoing clinical research continues to better define the renal and extra-renal manifestations of autosomal dominant polycystic and other renal cystic diseases. It is likely that a clearer understanding of the pathophysiology of these diseases will provide important insights into the processes that control tissue development and growth, and cellular differentiation.
Insights
Recent advances identify genes for polycystic kidney diseases, aiding understanding of cyst formation. Research explores genetic modifiers and new therapies for renal cystic diseases.
Area of Science:
- Nephrology
- Genetics
- Developmental Biology
Background:
- Renal cystic diseases have complex etiologies, with primary defects remaining elusive despite decades of research.
- Recent genetic discoveries have identified key genes for autosomal dominant polycystic kidney disease (ADPKD) types 1 and 2.
Purpose of the Study:
- To elucidate the primary defects underlying renal cystic diseases.
- To define the function and distribution of proteins encoded by newly identified ADPKD genes.
- To investigate the pathophysiology of cystogenesis and identify genetic/environmental modifiers of disease progression.
Main Methods:
- Genetic investigation and gene identification for hereditary cystic kidney diseases.
- Utilizing mouse and rat models to study disease progression and test novel management strategies.
- Ongoing clinical research to characterize renal and extra-renal manifestations.
Main Results:
- Identification of genes responsible for type 1 and type 2 autosomal dominant polycystic kidney disease.
- Progress in defining protein functions and the pathophysiology of cystogenesis.
- Advancement in understanding genetic and environmental factors influencing disease progression in animal models.
Conclusions:
- Newly identified genes and ongoing research are crucial for understanding renal cystic diseases.
- Animal models provide valuable insights for developing novel therapeutic strategies.
- Understanding cystogenesis pathophysiology may offer broader insights into tissue development and cellular differentiation.