Alport syndrome genetic and rare diseases information. While the disorder is inherited, symptoms do not arise until later in ones life. Alport syndrome causes kidney disease by damaging glomeruli the tiny filters in your kidney tasked with filtering your blood. Alport syndrome, estimated to affect 1 in 500010,000 individuals, is caused by mutations in any one of the three genes that encode the. The diagnosis of autosomal dominant alport syndrome was made. Alport syndrome, a hereditary nephritis accompanied by high tone sensorineural deafness and distinctive ocular signs, was first reported in the early 1900s by dr. The alport syndrome foundation is a nonprofit organization dedicated to improving the lives of those affected by alport syndrome through education, empowerment, advocacy, and research. The genetic disease classically also manifests with hematuria and proteinuria as the disease progresses to esrd. Rer size in alport ips podocytes following pba treatment 0. Clifford kashtan of the university of minnesota medical. The disease is more severe in males than in females. The destruction of the glomeruli over time leads to blood in the urine and may decrease the effectiveness of the kidneys filtering. It can also cause hearing loss and problems within the eyes. Treatment to retard the process of degeneration of basement membrane is currently not available.
It accounts for around 80 percent of people with alport syndrome. Alport syndrome can also affect the eyes, though the changes do not usually affect sight, except when changes to the lens occur in later life. Over time, an affected person may experience swelling, bone weakening, and joint pain. Other types of alport syndrome are called autosomal dominant alport syndrome and autosomal recessive alport syndrome. Full text renal transplantation in patients with alport syndrome.
Alport syndrome can have different inheritance patterns. This gene is located on the x chromosome, which is one of the two sex chromosomes. Alport syndrome is an inherited disease thats characterized by kidney disease, hearing loss, and eyesight problems. Please use one of the following formats to cite this article in your essay, paper or report. Glomeruli are the tiny filtering units inside your kidneys. Alport syndrome as is a progressive hereditary nephritis leading to. Alport syndrome, kidney transplantation, collagen iv, posttransplant antigbm nephritis. Although early treatment with angiotensinconverting enzyme. Awareness of alport syndrome among clinicians and families has increased greatly, so the disease is more likely to be suspected in patients with. Often times, alport syndrome is milder in females than in males, who experience more severe symptoms.
Until recent decades, the disease burden in heterozygous carrier females was. Alport linked the hematuria with the auditory defects and noted that the severity of the disease. Alport syndrome is characterized by kidney disease, hearing loss, and. Treatment may include use of a hearing aid, hemodialysis and peritoneal dialysis to treat those with end stage. Alport syndrome is a primary basement membrane disorder arising from mutations in genes encoding several members of the type iv collagen protein family. The incidence of the condition is 1 in 50,000 what are the risk factors for alport syndrome. The guide goes into extensive detail on exactly what you need to do to safely, effectively and permanently get rid of gout, and you are guaranteed to see dramatic improvements in days if not hours. Mutation of a specific gene is responsible for the development of this kidney problem. Clinical manifestations, diagnosis, and treatment of alport syndrome. Making the diagnosis of alports syndrome kidney international. With alport syndrome, the collagen type iv thats found in your glomeruli, inner ear, and eyes is affected, making them unable to do their. This means that you have the faulty gene on one of your. Alports syndrome, also known as hereditary nephritis, is a genetic syndrome that affects males more often than females and is associated with progressive renal insufficiency, hearing loss and abnormalities of the eyes. Alport syndrome also referred to as hereditary nephritis is an inherited progressive form of glomerular disease that is often associated with.
What is alport syndrome october 4 2019 alport syndrome is a type of inherited disease resulting in compromised kidney function hearing loss and eye abnormalities. We were initially able to identify 1601 articles using electronic and manual research. In males who have only one x chromosome, one altered copy of the col4a5 gene in each cell is sufficient to cause kidney failure and other severe. Xlinked alport syndrome xlas this is the most common type. Alports syndrome as familial hematuric nephritis with nerve deafness history in 1927, cecil alport was the first medical doctor to draw attention to familial persistent hematuria, associated with some degree of sensorineural deafness, and different severities of renal impairment in males and females. The gout eraser is a short, to the point guide on how to reverse gout symptoms without ever leaving your home. Alport syndrome fact sheet kidney health australia. Alport syndrome also referred to as hereditary nephritis is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities. Alport syndrome genetic and rare diseases information center. Xlinked alport syndrome xlas is caused by mutations in type iv collagen causing sensorineural hearing loss, eye abnormalities, and progressive kidney dysfunction that results in near universal endstage renal disease esrd and the need for kidney transplantation in affected males. These disorders are the result of mutations in type iv collagen genes see the image below. The alport syndrome is considered a hereditary condition. Alport syndrome is an inherited form of kidney inflammation nephritis. Kassirer editorinchief, new eng proteoglycans might be.
Fulltext pdf coexistence of alport syndrome and preeclampsia. This is reported to be a rare condition, but can provide great effect on people. Studies have demonstrated that it is caused by a genetic defect within one of the alpha chains of the type iv collagen, the major component of basement membranes. Other symptoms of kidney disease can include having protein in the urine proteinuria. Guthrie described several cases of familial idiopathic hematuria and suggested maternal genetic transmittance. Alport syndrome is a disease that damages the tiny blood vessels in your kidneys. The current standard of treatment is the use of angiotensinconverting enzyme inhibitors, which delay the progression of renal failure in alport syndrome. Alport syndrome is a primary basement membrane disorder arising. Alport syndrome is an inherited disorder that damages the tiny blood vessels in the kidneys. The term alport syndrome refers to a group of inherited, heterogeneous disorders involving the basement membranes of the kidney and frequently affecting the cochlea and eye as well. Alport who in 1927 described a british family in which many members developed renal disease as well as deafness. Pdf available february 2017 with 298 reads how we measure reads. Alport syndrome causes damage to your kidneys by attacking the glomeruli.
Alport syndrome is characterized by kidney disease, hearing loss, and eye abnormalities. Patients with alport syndrome present with he maturia in early. Alport syndrome symptoms, causes, treatment, complications. It is caused by a defect mutation in a gene for a protein in the connective tissue, called collagen. About 80 percent of cases are caused by mutations in the col4a5 gene and are inherited in an xlinked pattern. Pdf autosomal dominant alport syndrome presenting as. Pdf a 19yearold caucasian male presented to nephrology clinic for evaluation of proteinuria. Common symptoms reported by people with alport syndrome. In males who have only one x chromosome, one altered copy of the col4a5 gene in each cell is sufficient to cause kidney. The issues are related to a mutation in the col4a5 collagen gene and are inherited in an x. Alport syndrome can now be understood as a diffuse disorder of specialized basement membranes, characterized by their expression of particular isoforms of type iv collagen.
Symptoms typically begin in childhood, and the first sign of the condition is usually the presence of blood in the urine. Alport syndrome is typically observed more in males than females. Alport syndrome is a hereditary disorder caused by mutations in the a3a4a5iv collagen network genes resulting in structural defects in the glomerular basement membrane gbm early during development leading subsequently to the breakdown of the filtration barrier, development of renal fibrosis and kidney failure. Alport syndrome is an autoimmune disorder affecting type 4 collagen that includes kidney disease, hearing loss, and eye abnormalities. Alport syndrome, a hereditary nephritis accompanied by high tone sensorineural deafness and distinctive ocular signs, was first reported in the early 1900s.
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