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Related Concept Videos

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Nephrotic Syndrome I : Introduction

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Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
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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.
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Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen  forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
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Glomerular Outgrowth as an Ex Vivo Assay to Analyze Pathways Involved in Parietal Epithelial Cell Activation
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Familial FSGS.

Martin R Pollak1

  • 1Beth Israel Deaconess Medical Center, Boston, MA.

Advances in Chronic Kidney Disease
|August 30, 2014
PubMed
Summary
This summary is machine-generated.

Rare gene mutations cause focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome, often impacting podocyte function. APOL1 variants are a key exception, common in African ancestries and linked to high FSGS rates.

Keywords:
FSGSGenetic

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Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome are kidney diseases often linked to genetic factors.
  • These conditions can arise from mutations in various genes, affecting podocyte structure and function.
  • Inheritance patterns vary, with recessive forms typically appearing early and dominant forms later in life.

Purpose of the Study:

  • To review the genetic basis of FSGS and nephrotic syndrome.
  • To highlight the role of specific gene mutations and protein functions in these inherited glomerulopathies.
  • To discuss the impact of APOL1 variants on FSGS prevalence in specific populations.

Main Methods:

  • Literature review of genetic studies on FSGS and nephrotic syndrome.
  • Analysis of gene mutations and their associated protein functions.
  • Examination of inheritance patterns and population-specific genetic factors.

Main Results:

  • Numerous genes encoding proteins crucial for podocyte integrity are implicated in FSGS and nephrotic syndrome.
  • Recessive mutations generally manifest in early childhood, while dominant mutations present in adolescence or adulthood.
  • Common APOL1 gene variants are a significant contributor to FSGS in individuals of African ancestry.

Conclusions:

  • Familial FSGS is part of a broader spectrum of inherited kidney diseases.
  • The clinical presentation of FSGS can be influenced by the specific gene involved, protein function, and age of onset.
  • Understanding the genetic underpinnings of FSGS is crucial for diagnosis and management.