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Kidney Transplant I: Introduction01:28

Kidney Transplant I: Introduction

A kidney transplant is a surgical approach that involves replacing a non-functioning kidney with a healthy one from a donor. This procedure is often a treatment option for end-stage renal disease (ESRD) patients. The method requires careful recipient selection, including evaluating various medical and psychosocial factors. These criteria vary between transplant centers but generally include assessments of the patient's overall health, adherence to medical recommendations, and lifestyle...
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Orphan kidney diseases.

Neveen A Soliman1

  • 1Center of Pediatric Nephrology and Transplantation, Department of Pediatrics, Kasr Al Ainy School of Medicine, Cairo University, Egyptian Group for Orphan Renal Diseases (EGORD), Cairo, Egypt.

Nephron. Clinical Practice
|August 28, 2012
PubMed
Summary
This summary is machine-generated.

Rare kidney diseases, often called orphan diseases, are challenging due to small patient numbers and high development costs. Recent genetic research significantly advances understanding of these uncommon renal disorders and kidney function.

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Area of Science:

  • Nephrology
  • Genetics
  • Rare Diseases

Background:

  • Rare kidney diseases, or orphan renal diseases, affect few patients, leading to poorly defined natural histories and limited research.
  • Low disease awareness and high therapeutic development costs make these conditions unattractive for pharmaceutical investment.
  • Despite challenges, recent years show increased focus on studying and managing rare kidney diseases.

Purpose of the Study:

  • To provide an overview of orphan renal diseases.
  • To emphasize the role of monogenic kidney diseases within this category.
  • To classify rare kidney diseases and present examples for each category.

Main Methods:

  • Review of current literature on rare kidney diseases.
  • Focus on genetic underpinnings and pathogenesis.
  • Classification based on genetic etiology.

Main Results:

  • Significant expansion in understanding the genetic basis of rare kidney diseases.
  • Genetic investigations provide insights into disease pathogenesis.
  • Elucidation of kidney developmental and physiological functions through studying genetic disruptions.

Conclusions:

  • Genetic research is crucial for understanding rare kidney diseases.
  • Monogenic kidney diseases represent a key area of study within orphan renal disorders.
  • Further classification and research are needed to improve diagnosis and treatment.