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Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
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Inherited diseases of the kidney

G G Germino1, S Somlo

  • 1Johns Hopkins University School of Medicine, Division of Nephrology, Baltimore, MD 21205-2196.

Current Opinion in Nephrology and Hypertension
|May 1, 1993
PubMed

Insights

Genetic kidney diseases, like cystic diseases, are increasingly understood through molecular biology. This review integrates genetic discoveries with known disease paths for a clearer understanding of kidney degeneration.

Area of Science:

  • Nephrology
  • Molecular Biology
  • Genetics

Background:

  • Genetic defects cause numerous kidney diseases, varying in prevalence from rare to common (e.g., cystic diseases).
  • Physiological and cell biologic studies offer variable insights into disease pathobiology, with specific examples including nephrogenic diabetes insipidus, Alport syndrome, and Wilms tumor.
  • A unifying hypothesis for cystic kidney degeneration is currently lacking.

Purpose of the Study:

  • To integrate recent molecular biology discoveries with established pathobiology of genetic kidney diseases.
  • To provide a more complete understanding of the mechanisms underlying kidney degeneration caused by genetic defects.

Main Methods:

  • Review of molecular biology advancements in understanding genetic kidney diseases.
  • Integration of findings from physiologic and cell biologic studies.
  • Analysis of identified gene mutations and pathways involved in renal disorders.

Main Results:

  • Molecular biology has enabled identification of mutations in the V2 receptor (nephrogenic diabetes insipidus) and a novel collagen gene (Alport syndrome).
  • Progress has been made in identifying genes responsible for renal cancers and unraveling pathways in cystic kidney diseases.
  • Specific genetic underpinnings for conditions like nephrogenic diabetes insipidus, Alport syndrome, and renal cancers have been elucidated.

Conclusions:

  • Molecular biology offers powerful new approaches to understanding genetic kidney diseases.
  • Integrating molecular and pathobiologic data enhances comprehension of kidney disease mechanisms.
  • Further research into genetic pathways is crucial for a comprehensive understanding of renal degeneration.

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