The Genetic Pathogenesis of Kidney Disease: Genetic Ri
The Genetic Pathogenesis of Kidney Disease: Genetic Ri
Blog Article
Introduction:
The disease of the kidney is approaching quickly to an alarming pace all around the globe with a considerable new global syndrome of developing global health, impacting the life of millions of individuals from across the entire world. Lifestyle and exercise along with the pathological diabetic and hypertensive condition are also playing an important role in the course of kidney function like genetics. There are some individuals who inherit the susceptibility to develop kidney disease and thus are at risk even if they have a healthy lifestyle. How genes play a role in kidney disease, the genetic disorders that make one prone to it, and how genetics research is transforming the treatment in the future are the things this blog explains.
How Genetics Affects Kidney Disease
Genes contain information regarding how our body works, i.e., how our kidneys develop and work. If a person inherits modifications or mutations in certain genes, then he or she is more likely to develop kidney disease. Gene mutations may lead to physical alterations of kidneys, kidney function, and regulation of essential processes such as cleansing of blood, electrolyte balance, and excretion of waste products.
Genetic kidney disease is monogenic (defect in one gene) or polygenic (product of multiple genes and non-genetic contribution). Monogenic disease has classical inheritance, but polygenic diseases occur due to interaction between genetic and non-genetic contribution in pathogenesis of susceptibility.
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Common Genetic Disorders Leading to Kidney Disease
Some of the culprit genes include kidney disease genes, which come into an individual's life at one point or another. Some of the most frequent genetic kidney illnesses are:
- Polycystic Kidney Disease (PKD)
Polycystic Kidney Disease (PKD) is the most familial kidney ailment. PKD causes cysts filled with liquid to form on the kidneys, which swell up the kidneys and eventually lead to kidney failure. It has two forms:
Autosomal Dominant Polycystic Kidney Disease (ADPKD): Often occurs during adulthood after mutation of the PKD1 or PKD2 gene. Any patient who has either of the faulty genes will have a 50% chance of passing it to the child.
Autosomal Recessive Polycystic Kidney Disease (ARPKD): Severe but less common disease presenting at birth or infancy after mutation in the PKHD1 gene.
- Alport Syndrome
Alport Syndrome is a genetically caused eye, ear, and kidney disease. It is caused due to mutation of the glomerular collagen deposition gene COL4A3, COL4A4, or COL4A5. It must be noted to cause progressive renal insufficiency and deafness.
- Fabry Disease
Fabry Disease is secondary to genetic disease due to the mutation of GLA gene and results in toxic metabolites accumulation in the kidneys and other organs. Fabry Disease can lead to chronic kidney disease (CKD), cardiovascular disease, and neuropathic pain.
- Nephronophthisis (NPHP)
Nephronophthisis is a relatively rare autosomal recessive kidney disease in children and young adults. Nephronophthisis occurs due to NPHP gene mutation, leading to scarring and premature kidney failure.
- Congenital Kidney and Urinary Tract Abnormalities (CAKUT)
CAKUT is a broad term which refers to a syndrome of renal malformations occurring at birth. They are related to gene mutation, i.e., genes PAX2 and HNF1B, and are antecedents of adult-onset chronic kidney disease.
Even the genetic etiology is the cause of nephropathy of a pure genetic nature. Evidence of genetic heterogeneity as an etiology of susceptibility of an individual to CKD, glomerulonephritis, and diabetic nephropathy has been noted. For instance:
APOL1 gene mutation is highly linked with susceptibility to kidney disease among certain Africans.
UMOD gene mutation has a link with susceptibility to CKD among Europeans.
Early Diagnosis through Genetic Testing
Genetic screening with advanced technology can pick up inherited kidney disease in its early stage. Genetic screening may reveal whether the patient carries high-risk genes when there is family history of kidney disease. Genetic screening may be complemented with:
Early intervention: Continuous monitoring of the function of kidneys and continuation of protective lifestyle.
Customized treatment: Coordination of the drug and treatment with the genetic composition of the individual.
Family planning: Preimplantation genetic testing to avoid passing on genetic kidney disease.
The Future of Gene Research into Kidney Disease
Gene technology is revolutionizing the diagnosis and treatment of kidney disease. Gene therapy, gene-targeting drug discovery along established genetic pathways, and gene-targeted drugs are being explored. Among some of the future advances are:
Gene-editing technologies (e.g., CRISPR): Presumably would correct genetic errors leading to inherited kidney disease.
Targeted treatments: Therapy continues to arrest disease in genetically susceptible patients.
Identification of biomarkers: Genetic biomarkers for differential diagnosis and risk stratification.
Genetics have an important role to play in kidney disease: as genetic disease and susceptibility to overall kidney disease. Genes were uncontrollable, even tireless advances in genetics and gene-regulated treatment are being addressed more hopefully due to earlier diagnosis and treatment. Genetic risk attitude might warn physicians and patients to increased alertness to kidney condition and hence increase the patient's diagnosis in kidney disease patients.
Keeping in mind your relative's history of kidney disease, it can be highly insightful on what is going on in your situation and what not to tell your health care provider about the genetic test. Report this page