Related Experiment Video
Updated: Jul 29, 2025
09:43
Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice
Published on: June 8, 2022
3.0K
Deciphering the Genetic Code of Autoimmune Kidney Diseases.
Stephanie U-Shane Huang1, Oneli Kulatunge1, Kim Maree O'Sullivan1
1Department of Medicine, Centre for Inflammatory Diseases, Monash University, Clayton, VIC 3168, Australia.
Genes
|May 27, 2023
Summary
Genetic factors influence autoimmune kidney diseases like lupus nephritis and IgA nephropathy. Key genes and human leukocyte antigen (HLA) variations increase disease risk, impacting inflammation and kidney damage.
Area of Science:
- Nephrology
- Immunology
- Genetics
Background:
- Autoimmune kidney diseases arise from a loss of self-tolerance, leading to kidney inflammation and damage.
- Glomerulonephritis encompasses major autoimmune kidney diseases including lupus nephritis (LN), anti-neutrophil cytoplasmic associated vasculitis (AAV), anti-glomerular basement disease, IgA nephropathy (IgAN), and membranous nephritis (MN).
Purpose of the Study:
- This review consolidates known genetic associations for major autoimmune kidney diseases.
- It aims to elucidate the role of genetic polymorphisms in disease development and ethnic variations in risk.
Main Methods:
- The review synthesizes findings from genetic association studies, including genome-wide association studies (GWAS).
- It examines polymorphisms in human leukocyte antigen (HLA) II region, inflammation-regulating genes (NFkB, IRF4, FCGR), and genes involved in neutrophil extracellular trap (NET) clearance.
Main Results:
- Genetic associations are identified in the HLA II region and genes controlling inflammation and immune responses.
- Polymorphisms in DNase I and NET-regulating genes are linked to inefficient NET clearance, contributing to autoimmune kidney diseases.
- GWAS reveal shared genetic factors across diseases and highlight ethnic differences in risk.
Conclusions:
- Genetic factors, including HLA and inflammation-related genes, significantly contribute to the risk of autoimmune kidney diseases.
- Dysfunctional neutrophil extracellular trap clearance, influenced by genetic polymorphisms, plays a critical role in disease pathogenesis.
Related Concept Videos
01:29Autoimmune Disorders
532
Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
Concept and Mechanism of Autoimmune Diseases
The immune...
532
01:28Kidney Transplant I: Introduction
29
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...
29
01:20Renal Corpuscle
2.9K
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
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
2.9K
01:24Chronic Kidney Disease II: Clinical Manifestations
46
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
46
01:29Acute Kidney Injury II: Pathophysiology
37
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...
37
01:25Chronic Kidney Disease I: Introduction
48
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...
48