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Related Concept Videos

Nephrons01:10

Nephrons

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The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma...
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Renal Corpuscle01:20

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The glomerulus and Bowman's capsule are two essential components of the nephron, which is the functional unit of the kidney. These microscopic structures play a critical role in the process of blood filtration to produce urine.
Glomerulus: Structure and Function
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Chronic Kidney Disease I: Introduction01:25

Chronic Kidney Disease I: Introduction

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Chronic Kidney Disease (CKD) arises when the kidneys progressively lose their ability to function, ultimately leading to end-stage renal disease. At this advanced stage, the kidneys can no longer filter waste or maintain essential body functions, requiring renal replacement therapy (RRT) through dialysis or a kidney transplant for survival.Early-stage chronic kidney disease and detection challengesIn CKD's early stages, symptoms often remain absent because healthy nephrons compensate for...
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Renal Tubule and Collecting Duct01:24

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The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
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Acute Kidney Injury II: Pathophysiology01:29

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Acute kidney injury (AKI) causes are categorized into three primary categories based on the location of the injury: prerenal, intrarenal (or intrinsic), and postrenal causes. This classification guides clinical management and illustrates how different pathways can impair kidney function.Etiology and Pathophysiology of Acute Kidney Injury1. Prerenal causesEtiology: Prerenal Acute Kidney Injury, the most common type, occurs when reduced blood flow to the kidneys decreases filtration capacity...
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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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Hereditary Renal Diseases.

Lakshmi Mehta1, Belinda Jim2

  • 1Division of Medical Genetics, Department of Genetics and Genomic Sciences/Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY.

Seminars in Nephrology
|July 17, 2017
PubMed
Summary
This summary is machine-generated.

Hereditary kidney diseases are common, affecting 10% of adults and most children needing dialysis. Advances in genetic testing improve diagnosis and understanding of these renal and syndromic conditions.

Keywords:
Hereditary renal diseasegenetic counselingpre-implantation genetic diagnosis

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Area of Science:

  • Nephrology
  • Medical Genetics
  • Genetics

Background:

  • Hereditary kidney diseases account for a significant portion of renal replacement therapy cases in both adult and pediatric populations.
  • Technological advancements have significantly improved the capability for genetic diagnosis and deepened the understanding of renal and syndromic diseases.
  • Key monogenic hereditary renal diseases include polycystic kidney disease, Alport syndrome, and Fabry disease.

Purpose of the Study:

  • To review the genetics of renal diseases.
  • To provide nephrologists with a strategic approach to diagnosing and managing hereditary kidney disorders.
  • To discuss genetic testing, counseling, and reproductive options for hereditary renal conditions.

Main Methods:

  • Review of current literature on the genetics of renal diseases.
  • Discussion of diagnostic strategies for hereditary kidney disorders.
  • Overview of genetic counseling and reproductive technologies.

Main Results:

  • Common monogenic renal diseases like polycystic kidney disease, Alport syndrome, and Fabry disease are discussed.
  • Complex disorders such as congenital anomalies of the kidney and urinary tract are also covered.
  • A framework for genetic testing, counseling, and reproductive options (prenatal diagnosis, pre-implantation genetic diagnosis) is presented.

Conclusions:

  • Genetic diagnosis and understanding of hereditary kidney diseases have advanced significantly.
  • Nephrologists can utilize genetic testing and counseling to manage patients with hereditary renal disorders.
  • Reproductive options are available for at-risk couples, and pregnancy outcomes in specific renal diseases are reviewed.