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Topic: Alport syndrome


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In the News (Mon 17 Jun 19)

  
  Diagnose-Me: Condition: Alport Syndrome
Alport Syndrome is an inherited disease that affects the glomeruli, the tiny blood vessels within the kidneys that filter the blood of its wastes.
The diagnosis of Alport Syndrome is done by a careful family history and a kidney biopsy (examination of a small piece of tissue taken from the kidney).
Alport syndrome is caused by a mutation in a gene for collagen.
www.diagnose-me.com /cond/C519954.html   (1505 words)

  
 Alport syndrome - Wikipedia, the free encyclopedia
Alport syndrome is a genetic condition characterized by the progressive loss of kidney function and hearing.
Alport syndrome is caused by mutations in COL4A3, COL4A4, and COL4A5, collagen biosynthesis genes.
Alport syndrome can be inherited in an autosomal recessive pattern if both copies of the COL4A3 or COL4A4 gene, located on chromosome 2, have been mutated.
en.wikipedia.org /wiki/Alport_syndrome   (636 words)

  
 Nephrotic syndrome - Wikipedia, the free encyclopedia
Nephrotic syndrome is a disorder where the kidneys have been damaged, causing them to leak protein from the blood into the urine.
It is important to note, however, that nephrotic syndrome can be associated with lesser degrees of proteinuria, and many of the complications of nephrotic syndrome are due to hypoalbuminemia and the resultant decreased plasma oncotic pressure.
Nephrotic syndrome is characterised by proteinuria (detectable protein in the urine), and low albumin levels in blood plasma.
en.wikipedia.org /wiki/Nephrotic_syndrome   (934 words)

  
 Alport Syndrome | AHealthyMe.com
Alport syndrome in most cases is caused by a defect in one or more genes located on the X chromosome.
Alport syndrome is diagnosed with a medical evaluation and family history, together with a kidney biopsy that can detect changes in the kidney typical of the condition.
Alport syndrome is a genetic disease and prevention efforts are aimed at providing affected individuals and their families with information concerning the genetic mechanisms responsible for the disease.
www.ahealthyme.com /topic/topic100586414   (683 words)

  
 National Kidney Foundation: A to Z Health Guide Item
Alport Syndrome is an inherited disease that primarily affects the glomeruli, the tiny tufts of capillaries in the kidneys that filter wastes from the blood.
Alport Syndrome is caused by changes in genes (mutations) that affect type IV collagen, a protein that is important to the normal structure and function of glomeruli.
Many people with Alport Syndrome also have hearing problems and abnormalities of the eyes, because the type IV collagen proteins are important to the normal structure and function of the inner ear and the eye.
www.kidney.org /atoz/atozItem.cfm?id=47   (1054 words)

  
 UK NKF - Alports Syndrome.
Alport's syndrome is caused by an abnormality in the collagen.
First, if Alport's syndrome is known to run in the family, a simple test for blood in the urine may be enough to be fairly sure of the diagnosis.
Both men and women with Alport's syndrome have small amounts of blood in the urine from a very early age, so it is easy to test for Alport's syndrome in relatives of someone known to be affected.
www.kidney.org.uk /Medical-Info/alports   (720 words)

  
 TheBostonChannel.com - Health Encyclopedia - Alport Syndrome
Alport syndrome is an inherited disorder (usually X-linked) involving damage to the kidney, blood in the urine, and in some families, loss of hearing.
Alport syndrome is a form of hereditary nephritis.
Risk factors include having a family history of Alport syndrome, nephritis, end-stage renal disease in male relatives, hearing loss before age 30, bloody urine, glomerulonephritis, and similar disorders.
www.thebostonchannel.com /encyclopedia/6860236/detail.html   (859 words)

  
 Alport Syndrome
Alport Syndrome is a group of hereditary kidney disorders characterized by progressive deterioration of the glomerular basement membranes (GBMs), which are microscopic parts of the kidney.
Alport Syndrome, depending on the type, may be inherited as an autosomal dominant trait or an X-linked dominant trait.
Alport patients are born with basement membranes that are thin and weak.
hw.healthdialog.com /kbase/nord/nord592.htm   (2016 words)

  
 New Zealand Kidney Foundation - Fact Sheets, Alport’s Syndrome   (Site not responding. Last check: 2007-10-31)
Alport’s syndrome is a relatively uncommon genetic disease that causes progressive kidney damage.
Deafness: Alport’s Syndrome is often associated with progressive loss of hearing, and may be a clue to diagnosis.
Researchers have identified that Alport’s syndrome is caused by a mutation in the gene for collagen.
www.nzkidneyfoundation.co.nz /main/article_000056.html   (1218 words)

  
 Alport’s Syndrome
Alport’s syndrome is a hereditary disease that affects kidney function and can also cause hearing and vision disorders.
Alport’s syndrome is caused by a defective gene carried on the X chromosome.
Because Alport’s syndrome has a genetic link, you may want to seek genetic counseling if you are planning to have children and there is a family history of the disease.
www.hmc.psu.edu /healthinfo/a/alports.htm   (672 words)

  
 Familial Nephritis and Alport Syndrome - New Treatments, May 2, 2006
Alport syndrome, also known as familial or hereditary nephritis, is a genetic disease of the kidneys that also may involve the eyes, ears, and other organ systems.
It is now known that Alport syndrome is a disease of basement membranes, which are specialized aggregates of unique extracellular proteins that provide structural and functional support to epithelial and endothelial cell layers throughout the body.
The gene frequency for Alport syndrome is estimated to be 1/5,000 to 1/10,000.
www.ccspublishing.com /journals3a/alport_syndrome.htm   (657 words)

  
 Rare Pediatric Disease Database   (Site not responding. Last check: 2007-10-31)
Alport syndrome is a congenital (present at birth) disorder that causes deafness, eye abnormalities and kidney failure in children.
The cause of Alport syndrome is due to a defective gene that is responsible for making collagen, a major protein making up the connective tissue that holds things together in our bodies.
Treatment for Alport syndrome focuses on assisting children with their hearing, monitoring their eyes, and using medicines to counter the effects of their kidney failure and prolong the life of the kidney.
www.madisonsfoundation.org /content/3/1/display.asp?did=374   (612 words)

  
 Alport Syndrome
Chinese Alport syndrome (AS) was analyzed in 44 unrelated patients who were screened for mutations in the COL4A5 gene by polymerase chain reaction (PCR)-single-strand conformation polymorphism analysis or PCR direct sequencing in 30 of the 44 patients.
Alport syndrome refers to a hereditary disorder characterized by progressive renal disease and a multilaminar appearance to the glomerular basement membrane (GBM).
The majority of grafts in transplant recipients with Alport's syndrome failed because of chronic allograft nephropathy (69% of grafts) and acute rejection (22% of grafts).
www.thedoctorsdoctor.com /diseases/alport_syndrome.htm   (911 words)

  
 Alport syndrome - Genetics Home Reference
The prevalence of Alport syndrome is approximately 1 in 50,000 newborns.
Mutations in the COL4A3, COL4A4, and COL4A5 genes cause Alport syndrome.
Alport syndrome can also be inherited in an autosomal dominant pattern, which means one copy of the altered gene, either COL4A3 or COL4A4, can be sufficient to cause the disorder.
ghr.nlm.nih.gov /condition=alportsyndrome   (875 words)

  
 Alport's Syndrome -- eCureMe.com
Alport's syndrome is a common cause of hematuria (blood in the urine).
Alport's syndrome is caused by a genetic mutation that affects the formation of collagen.
Alport's syndrome is much more common in males than in females.
www.ecureme.com /emyhealth/Pediatrics/Alport's_Syndrome.asp   (256 words)

  
 X-linked Alport Syndrome   (Site not responding. Last check: 2007-10-31)
Alport syndrome, or hereditary nephritis, is a rare, progressive form of glomerular disease that affects 1 in 50,000 live births.
The histologic changes seen in the kidney in Alport syndrome include early thinning of the basement membrane and late development of longitudinal splitting of the glomerular basement membrane on electron microscopy, producing a laminated appearance.
Subsequently, a diagnosis of Alport syndrome can be confirmed or excluded in the majority of cases by the performance of a renal biopsy with analysis of type IV collagen expression in the kidney.
www.ispub.com /ostia/index.php?xmlFilePath=journals/ijne/vol1n1/alport.xml   (1079 words)

  
 BBC - Health - Ask the doctor - Alport's syndrome   (Site not responding. Last check: 2007-10-31)
Alport's syndrome is a rare inherited problem which has a combination of effects.
Alport's is unusual because it's one of the few problems thought to be carried on the X chromosome (the 'female' chromosome).
The main symptom in Alport's syndrome is blood in the urine (known as haematuria).
www.bbc.co.uk /health/ask_the_doctor/alportssyndrome.shtml   (609 words)

  
 The Kidney Foundation - Alport Syndrome
Alport Syndrome (AS) is an inherited disorder of the basement membranes of the kidney, eye and ear.
Thus, one of the early signs of Alport syndrome may be leakage of small amounts of blood or protein into the urine during childhood.
Another unusual form of Alport Syndrome has been described in association with giant platelets in the blood, but the genetic basis for this variant is unknown.
www.kidney.ca /page.asp?intNodeID=22140   (1429 words)

  
 Medical Dictionary: Alport syndrome - WrongDiagnosis.com
Alport syndrome : hereditary disorder characterized by progressive sensorineural hearing loss, progressive pyelonephritis or glomerulonephritis, and, occasionally, ocular defects; transmitted as an autosomal dominant or X\-linked trait.
Alport syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
This means that Alport syndrome, or a subtype of Alport syndrome, affects less than 200,000 people in the US population.
www.wrongdiagnosis.com /medical/alport_syndrome.htm   (236 words)

  
 Alport syndrome
Alport syndrome is the second most common inherited cause of kidney failure.
Alport syndrome is much more common in boys and men because the gene that usually causes it (called COL4A5) is on the X chromosome.
People with Alport syndrome are usually otherwise healthy and do very well on dialysis, and even better after a successful kidney transplant.
renux.dmed.ed.ac.uk /EdREN/EdRenINFObits/AlportLong.html   (1023 words)

  
 Home
Alport's Syndrome is a relatively uncommon genetic disease.
Unfortunately, there are many varieties of Alport's Syndrome and there is still some dispute about the type of genetic transmission from one generation to the next.
Those individuals who have the disease are capable of transmitting it to their offspring, so their situation should be reviewed with a physician or other genetic counsellor in order to make them aware of the risks they may undertake when starting a family.
www.kidneyindia.com /alports_syn.htm   (444 words)

  
 Alport syndrome   (Site not responding. Last check: 2007-10-31)
Alport syndrome is the second most common inheirited cause of kidney failure.
One of the early signs of alport syndrome may be small amounts of blood or protein in the urine during childhood.
About one in 5,000 children are affected by alport syndrome.
www.intellimeds.com /conditions/alport_syndrome.aspx   (267 words)

  
 Alport's Syndrome - Patient UK
Alport's Syndrome associated with leiomyomatosis is another distinct entity (caused by large deletions spanning the adjacent X-linked COL4A5 and COL4A6 genes and perhaps other genes, making it a "contiguous gene syndrome").
Incomplete penetrance of Alport syndrome in females must always be kept in mind - genetic tests may soon be available for gene-carrier status in most families.
Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis.
www.patient.co.uk /showdoc/40001344   (647 words)

  
 Alport Syndrome
Alport syndrome primarily affects males because the genetic defect is on the X chromosome.
I was 7 years old when I was diagnosed with Alport's Syndrome, an inherited kidney disease I received from my mother's side of the family.
Alport's is an auto-immune disease that results in progressive degeneration of certain types of collagen in the body usually, but not always, resulting in hearing impairments, poor vision (via an anterior lenticonus), and kidney failure.
www.squidoo.com /alport_syndrome   (1086 words)

  
 UK NKF - How is Alport's syndrome diagnosed?
Alport's syndrome causes small amounts of blood to appear in the urine from a very early age.
Alport's syndrome causes a unique appearance when the kidney is examined under the microscope.
The genetic abnormalities in the COL4A5 gene that cause Alport's (for an explanation of what the COL4A5 is, click here) were first described in the 1980's, but it has proved very difficult to use genetic tests to diagnose Alport's syndrome.
www.kidney.org.uk /Medical-Info/alports/diagnosis.html   (477 words)

  
 Alport syndrome definition - Medical Dictionary definitions of popular medical terms   (Site not responding. Last check: 2007-10-31)
Alport syndrome: An hereditary condition characterized by kidney disease, sensorineural (nerve) deafness and sometimes eye defects.
The classic disorder as described by Alport in 1927 is nephritis (inflammation of the kidney), often progressing to renal failure, and sensorineural (nerve) hearing loss affecting both sexes in successive generations.
The sensorineural (nerve) hearing loss in Alport syndrome primarily affects high tones and occurs in 30 to 50% of relatives with renal disease.
www.medterms.com /script/main/art.asp?articlekey=10745   (233 words)

  
 ALPORT SYNDROME: FROM GENES TO BEDSIDE
Alport syndrome (AS) is an inherited disorder characterized by the familial occurrence in successive generations of progressive nephritis with hematuria and of neural hearing loss.
Alport syndrome is now considered to belong to a diverse group of collagen diseases such as osteogenesis imperfecta (Type I collagen), chondro-dysplasia (Type II collagen), Ehlers-Danlos syndrome (Type III collagen) and epidermolysis bullosa (Type VII collagen).
Alport familial nephritis: absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane.
www.kfshrc.edu.sa /annals/191/98-290ED.html   (1548 words)

  
 eMedicine - Alport Syndrome : Article by Ramesh Saxena, MD, PhD
Alport also noted that hematuria was the most common presenting symptom, and that males were affected more severely than females.
Hudson BG: The molecular basis of Goodpasture and Alport syndromes: beacons for the discovery of the collagen IV family.
Kashtan CE: Alport syndrome and thin glomerular basement membrane disease.
www.emedicine.com /med/topic110.htm   (6047 words)

  
 [ Fechtner syndrome. A rare differential Alport syndrome diagnosis].   (Site not responding. Last check: 2007-10-31)
A rare differential Alport syndrome diagnosis].In this article, we report on a family in which five examined members showed clinical signs of Fechtner syndrome, a condition which consists of hearing loss (49%), macro-thrombocytopenia (100%), leukocyte inclusion bodies (100%), eye anomalies (54.3%), and nephritis (38.7%).
The most striking difference between hearing loss in Fechtner syndrome and that in Alport's syndrome was that the vast majority of hearing disorders in the latter occur in male patients, which is not the case in Fechtner syndrome.
Hearing loss in Fechtner syndrome appears to be sensorineural with the higher frequencies primarily affected.
www.ihop-net.org /UniPub/iHOP/gp/8628431.html   (141 words)

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