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Alport Syndrome: more detail

Molecular Pathology and Genetics of Alport Syndrome (Contributions to Nephrology)
Alport Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19
Gale Encyclopedia of Medicine: Alport syndrome by Carol A. Turkington, 2002-01-01
The Molecular Genetics of X-Linked Alport Syndrome (Acta Biomedica Lovaniensia) by Caiying Guo, 1995-11
Alport Syndrome: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Carol Turkington, 2006
Hereditary nephropathy with hearing loss: "Alport's syndrome" (Acta paediatrica Scandinavica : Supplement) by Ulla Marianne Iversen, 1974
Hereditary hearing loss with nephropathy (Alport's syndrome); (Acta oto-laryngologica. Supplement[um]) by John Sidney Turner, 1970
Familial nephritis: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Maria, PhD Basile, 2005

lists with details

Alport Syndrome Home Page
alport syndrome Home Page. why by. Curtis L. Atkin PhD, Research syndrome, urinalysis. Return to MENU. About alport syndrome. CLA s Note Over
http://www.cc.utah.edu/~cla6202/ASHP.htm

Extractions: why by Curtis L. Atkin PhD , Research Associate Professor of Internal Medicine and of Biochemistry, University of Utah, deceased January 23, 2000. Please send items for general discussion to either or both of two online Alport support groups with message boards and chats, the Alport Forum and the Hereditary Nephritis Foundation NC . We cannot respond regarding your personal health: see your nephrologist! Citations here of some commercial services are solely for your information, and are in no way to be construed as recommended by this site or the University of Utah. Responsibility is hereby disclaimed for any and all information, goods and services provided by others. Caveat lector! Caveat emptor! First version January, 1996; last modified by CLA December 16, 1999, last amended by D. Barker August 10, 2000. Visitors enumerated by WebCounter since May 9, 1999: Notes: I discovered that many links on this page had been inadvertantly altered. (Also Webcounter is frozen since July). I have
MedlinePlus Medical Encyclopedia: Alport Syndrome
alport syndrome. Causes, incidence, and risk factors Return to top. alport syndrome is very similar to hereditary nephritis. There
http://www.nlm.nih.gov/medlineplus/ency/article/000504.htm

Extractions: @import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Male urinary system Alternative names Return to top Hereditary nephritis; Hematuria - nephropathy - deafness; Hemorrhagic familial nephritis; Hereditary deafness and nephropathy Definition Return to top 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. The disorder may also include eye defects. Causes, incidence, and risk factors Return to top Alport syndrome is very similar to hereditary nephritis. There may be nerve deafness and congenital eye abnormalities associated with Alport syndrome. The cause is a mutation in a gene for collagen. The disorder is uncommon, and most often affects males since the genetic defect is typically found on the X chromosome.
Alport Workshop
The Fourth International Workshop on alport syndrome. This Fourth International Workshop on alport syndrome was held in Salt Lake City April 1517, 1999.
http://www.cc.utah.edu/~cla6202/ASIW.htm

Extractions: Salt Lake City, Utah, USA Dear Colleagues and Alport Families: The first afternoon was devoted to the first-ever session for patients and families. Conducted by six of us from University of Utah and Primary Children's Hospital, it was attended by one Australian, four Canadians, one Cypriot, two Turks, eight other Utahns, and 21 persons from ten other U.S. states. The program with hyperlinks is shown below. An audiotape of this session only is being edited and may eventually become available via the Hereditary Nephritis Foundation and/or the National Kidney Foundation of Utah The subsequent two days were devoted to scientific sessions. Programs are given below. This Workshop was attended by four of us from University of Utah and by 42 others representing at least 18 nationalities. Attendees proposed to form an International Consortium on Alport Syndrome, along the lines of the existing European Consortium. The next International Workshop on Alport Syndrome and Other Inherited Glomerular Diseases will be held in Europe in the autumn of 2001, likely in Stockholm. Tentatively, a further workshop will be held in Australia in 2004, in conjunction with the International Pediatric Nephrology Association Meetings.
ALPORT SYNDROME
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. It was first described by an English doctor, A. Cecil Alport.
http://www.kidney.org/general/atoz/content/alportsyn.html

Extractions: 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. It was first described by an English doctor, A. Cecil Alport. Because of the way Alport Syndrome is inherited, the disease tends to be more severe in men than in women. What are the symptoms? The central feature of the disease is the presence of blood in the urine. Boys with Alport Syndrome develop this symptom in infancy, while girls who carry the Alport gene may or may not have it. Another important symptom of Alport Syndrome is hearing loss. In boys with the disease, hearing loss is usually detectable by 8-10 years of age, and it may be severe enough to require the use of hearing aids. Hearing loss in girls tends to be much milder, rarely resulting in the need for hearing aids. Some boys with Alport Syndrome lose large amounts of protein in the urine, resulting in retention of fluid and body swelling. This condition is called "the nephrotic syndrome." With the passage of years, boys with Alport Syndrome develop the typical signs and symptoms of kidney failurehigh blood pressure, swelling, and in some cases, impaired growth. Some people with Alport Syndrome have an eye problem called anterior lenticonus, in which the shape of the lens becomes distorted. This can interfere with the sharpness of vision.
EMedicine - Alport Syndrome : Article By Prasad Devarajan, MD
alport syndrome alport syndrome encompasses a group of heterogeneous inherited disorders involving the basement membranes of the kidney and frequently involving the cochlea and the eye. These
http://www.emedicine.com/ped/topic74.htm

Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Nephrology Last Updated: October 15, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: Alport's syndrome, hereditary nephritis, familial nephritis, hereditary nephritis with neurosensory deafness AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Prasad Devarajan, MD , Director of Nephrology and Hypertension, Louise M. Williams Professor of Pediatrics and Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center Prasad Devarajan, MD, is a member of the following medical societies: American Academy of Pediatrics American Heart Association American Society of Nephrology American Society of Pediatric Nephrology ... National Kidney Foundation , and Society for Pediatric Research Editor(s): Uri S Alon, MD
EMedicine - Alport Syndrome : Article By Ramesh Saxena, MD, PhD
alport syndrome In 1927, Cecil A. Alport described 3 generations of a family with combinations of progressive hereditary nephritis and deafness. Alport also noted that hematuria was the most Subsequently, many more families were described, and the eponym alport syndrome (AS) was coined in 1961 term effects of cyclosporine A in Alport's syndrome. Kidney Int 1999 Mar; 55
http://www.emedicine.com/med/topic110.htm

Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Medicine, Ob/Gyn, Psychiatry, and Surgery Nephrology Last Updated: August 14, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: AS, hereditary nephritis, deafness, hematuria, type IV collagen, end-stage renal disease, ESRD, glomerular basement membrane, GBM, tubular basement membrane, TBM, autosomal dominant Alport syndrome, ADAS, autosomal recessive Alport syndrome, ARAS, X-linked Alport syndrome, XLAS, leiomyomatosis, anterior lenticonus, dot-and-fleck retinopathy, proteinuria AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Ramesh Saxena, MD, PhD , Assistant Professor, Department of Internal Medicine, Division of Nephrology, University of Texas, Southwestern Medical Center Ramesh Saxena, MD, PhD, is a member of the following medical societies: American Medical Association American Society of Nephrology , and International Society of Nephrology Editor(s): Frank C Brosius III, MD
Pediatric Database
A definition of alport syndrome followed by clinical features, investigation and management.
http://www.icondata.com/health/pedbase/files/ALPORTSY.HTM
Alport Syndrome
Chinese alport syndrome (AS) was analyzed in 44 unrelated patients who were screened for mutations in the in a canine model of Xlinked alport syndrome. Affected male dogs and
http://www.thedoctorsdoctor.com/diseases/alport_syndrome.htm

Extractions: Background This is a rare inherited disease that chiefly affects the kidneys. It is caused by mutations in one or the other of several COL4A genes. These genes encode for the elements of the basement membrane (Type IV) collagen. The result is a hereditary glomerulonephritis with a chronic nephritis that progresses to end-stage renal disease. Associated conditions include hearing loss, lenticonus and other eye disorders, immunologic abnormality of skin, disorders of platelets, abnormalities of white blood cells, and smooth muscle tumors. OUTLINE Epidemiology Disease Associations Pathogenesis Laboratory/Radiologic/Other Diagnostic Testing ... Internet Links EPIDEMIOLOGY CHARACTERIZATION SYNONYMS X-linked hereditary nephritis INCIDENCE/PREVALENCE About 5000 individuals worldwide AGE SEX GEOGRAPHY CHINESE
Alport Syndrome - Medical Dictionary Definitions Of Popular Medical Terms
Online Medical Dictionary and glossary with medical definitions alport syndrome An hereditary condition characterized by kidney disease, sensorineural (nerve) deafness a given individual with alport syndrome. alport syndrome is not one disease
http://www.medterms.com/script/main/art.asp?articlekey=10745
Alport Syndrome
Information about this hereditary renal disease. German site with English translation.
http://www.alport.de
Medical Encyclopedia: Alport Syndrome (Print Version)
Medical Encyclopedia alport syndrome. Causes, incidence, and risk factors. alport syndrome is very similar to hereditary nephritis.
http://www.nlm.nih.gov/medlineplus/print/ency/article/000504.htm

Extractions: To close this window, click on the "x" in the upper right hand corner of the window. URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/000504.htm Alternative names Hereditary nephritis; Hematuria - nephropathy - deafness; Hemorrhagic familial nephritis; Hereditary deafness and nephropathy Definition 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. The disorder may also include eye defects. Causes, incidence, and risk factors Alport syndrome is very similar to hereditary nephritis. There may be nerve deafness and congenital eye abnormalities associated with Alport syndrome. The cause is a mutation in a gene for collagen. The disorder is uncommon, and most often affects males since the genetic defect is typically found on the X chromosome.
KFOC - Alport Syndrome
alport syndrome alport syndrome (AS) is an inherited disorder of the basement membranes of the kidney, eye and ear. Nonclassical alport syndrome.
http://www.kidney.ca/english/publications/factsheets/alport.htm

Extractions: Alport Syndrome Alport Syndrome (AS) is an inherited disorder of the basement membranes of the kidney, eye and ear. People who inherit defective genes for the "collagen" proteins in these basement membranes may develop progressive loss of renal function, deafness and abnormalities of the eye. In the kidneys, glomerular basement membranes normally act like filters, allowing fluid to move from blood vessels to urine while retaining protein and red blood cells within the bloodstream. Thus, one of the early signs of Alport syndrome may be leakage of small amounts of blood or protein into the urine during childhood. Collagen-containing membranes are also important for the shape of the lens of the eye and the structure of the inner ear. History In 1927, Dr. Alport wrote his classic report on a British family with the syndrome. He drew attention to the fact that affected males in this family uniformly developed progressive renal failure and deafness, whereas females were less affected. This pattern of inheritance is termed "X-linked". The normal copy of the gene onto the other X chromosome relatively protects female "carriers" who inherit an abnormal Alport gene on one X chromosome. Some females may develop renal insufficiency, but in general this occurs late in life. In contrast, every male receives one Y chromosome from his father and one X chromosome from his mother; thus, if he happens to inherit an X-chromosome bearing a mutant Alport gene, the boy is unprotected and develops the full-blown Alport Syndrome as a young adult.
Gale Encyclopedia Of Medicine Alport Syndrome
Submit a Site. Advanced Search · Help. You are HereArticles Gale Encyclopedia of Medicine Article. Sponsored Links. Content provided in partnership with. Print article Tell a friend Find subscription deals. alport syndrome alport syndrome affects about one in 5 000 Americans, striking men more often and severely than women alport syndrome in most cases is caused by a defect in one or
http://www.findarticles.com/cf_0/g2601/0000/2601000051/p1/article.jhtml?term=kid
Alport Syndrome | AHealthyMe.com
A detailed look at alport syndrome and its causes, symptoms, diagnosis, treatment and prevention.
http://www.ahealthyme.com/article/gale/100085025;$sessionid$5AOPE2YAAAIJ1WCYSYZS

Extractions: Alport syndrome affects about one in 5,000 Americans, striking men more often and severely than women. There are several varieties of the syndrome, some occurring in childhood and others not causing symptoms until men reach their 20s or 30s. All varieties of the syndrome are characterized by kidney disease that usually progresses to chronic kidney failure and by uremia (the presence of excessive amounts of urea and other waste products in the blood). Causes and symptoms Alport syndrome in most cases is caused by a defect in one or more genes located on the X chromosome. It is usually inherited from the mother, who is a normal carrier. However, in up to 20% of cases there is no family history of the disorder. In these cases, there appears to be a spontaneous genetic mutation causing Alport syndrome. Blood in the urine (hematuria) is a hallmark of Alport syndrome. Other symptoms that may appear in varying combinations include:
Health.iafrica.com | Doc Online | Ask The Doctor | Renal & Urology Alport Syndro
A mother asks for and receives general information about alport syndrome.
http://health.iafrica.com/doconline/qa/renal/alportsyndrome.htm

Extractions: Communities: [ h o m e ] Africa Afrikaans Aids Wise Business Cars Careers Cooltech Dating Easy Money Festive Fever Entertainment Fun Stuff Games Highlife Men Motoring My Money News Sport Talk Travel Weather Win Women Services: Book Airtickets Car Hire Chat Online Classifieds Directories Ecards Homeloans Mobile Magic myiafrica.com Shop Online Search Posted Tue, 30 May 2000 Question My two sons, aged eight and ten have Alport syndrome. Is there anything I can do to keep their kidney's healthy? Please may I have some general information about the disease? Answer Alport syndrome is the most common of several types of what are called hereditary nephritis. Nephritis is a non-specific term to describe inlfammation of the kidneys which can result from a number of different causes. Alport syndrome shows marked variation in the symptoms which occur, the course of the disease, the underlying problem with the cells of the kidney, and the way in which it is inherited. Those with Alport syndrome often have no symptoms, but microscopic amounts of blood are found in their urine if it is examined. They sometimes have large amounts of blood in the urine which can be seen.
Kidney Learning System - Alport Syndrome
KLS Home Fact Sheets alport syndrome. Printer friendly. alport syndrome. What is alport syndrome? alport syndrome is an inherited
http://www.kidney.org/kls/factsheets/showFS.cfm?id=20&&title=fs_alport.htm
Alport Syndrome
alport syndrome. from EdREN, the website of the Renal Unit of the Royal Infirmary of Edinburgh. What happens in alport syndrome? In
http://renux.dmed.ed.ac.uk/EdREN/EdRenINFObits/AlportLong.html

Extractions: from EdREN , the website of the Renal Unit of the Royal Infirmary of Edinburgh What happens in Alport syndrome? What trouble does Alport syndrome cause? How is it inherited? How can family members tell whether they have Alport syndrome? ... Key points Alport syndrome is the second most common inherited cause of kidney failure. It usually affects young men, but it can affect older people and women. In each of the one million tiny filtering units (glomeruli) in each kidney, blood is filtered across the glomerular basement membrane (GBM). In Alport syndrome, type IV collagen, one of the proteins that makes up the GBM, is absent or abnormal. Althought the GBM looks normal in childhood, the GBM deteriorates with time because it lacks the special type IV collagen that should be there, (see pictures). Normal Alport A very highly enlarged view of the filter in the glomerulus. These electron microscope images are magnified x100,000, and show glomerular basement membrane ( G ) in a normal glomerulus (LEFT) and in Alport syndrome (RIGHT). The diagrams below illustrate the thickening and 'falling apart' of Alport GBM.
Non-Alport Syndromes
Conditions that may be confused with alport syndrome. Gene, chr. Inher. Other information. alport syndrome, about 80%, COL4A5, X, XLr. Basement membrane collagen.
http://renux.dmed.ed.ac.uk/EdREN/Teachingbits/nonAlport.html

Extractions: Diseases may be confused with Alport syndrome simply because they are familial and not polycystic, because they are associated with deafness, or because they have an abnormal-looking GBM. Sometimes they will be Alport Syndrome with unusual features, but at other times they may be one of the following: Disease Gene, chr Inher Other information Alport syndrome, about 80% COL4A5, X XLr Basement membrane collagen Ar Basement membrane collagen Alport syndrome, very rare Ad Basement membrane collagen Fechtner syndrome Ad The gene is a non-muscle myosin heavy chain. Progressive renal failure (but is there any BM abnormality), associated with deafness, macrothrombocytopenia, wbc inclusions. Various names for variants: eg. Epstein is the same without wbc abnormalities; Sebastian is the haematological abnormalities alone. May-Hegglin anomaly is the same as Sebastian syndrome but with structurally different wbc inclusions. Check any of these in OMIM Thin basement membrane disease Ad Basement membrane collagen. Probably a minority of families are carriers of autosomal recessive Alport syndrome, but a significant proportion are. Unlike female carriers of COL4A5 mutations, there are not areas of thickening/ basket weave, just global thinning of the GBM.
Alport Syndrome - Parents - Boys Town National Research Hospital
Genetics and Deafness alport syndrome. alport syndrome (AS) is characterized by hereditary nephritis (kidney disease known as Bright s
http://www.boystownhospital.org/parents/info/genetics/alport.asp

Extractions: Genetics and Deafness - Alport Syndrome Alport Syndrome (AS) is characterized by hereditary nephritis (kidney disease known as Bright's disease in the past) and sensorineural hearing loss. The mode of inheritance may be X-linked or autosomal dominant. Less common symptoms include a defect of the lens of the eye called anterior lenticonus and a defect of blood platelets that can cause bleeding complications. AS is usually diagnosed by a test for blood and protein in the urine, hearing tests, and an extended family history. Hearing loss commonly occurs in childhood. - Most subtypes of AS include a bilateral progressive sensorineural hearing loss of mild to moderate degree, but some individuals may have a severe to profound loss. Females generally have a milder hearing loss than their male relatives if they have one at all. Management of the hearing loss includes regular audiologic follow-up, use of hearing aides, and avoidance of certain drugs and excessive noise exposure that can cause further hearing loss.
GeneReviews: Alport Syndrome
Your browser does not support HTML frames so you must view alport syndrome in a slightly less readable form. Please follow this link to do so.
http://www.geneclinics.org/profiles/alport

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