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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
Extensive data base for this disease along with message board, chat and resources.
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
Frontseite
Information about this hereditary renal disease. German site with English translation.
http://www.alport.de

Extractions: Das Alport Syndrom eine erbliche Nierenerkrankung ertr English version weiter Diese private Homepage soll ratsuchende Patienten und interessierte Ärzte über das Alport Syndrom informieren. Aus dem Inhalt: historischer Überblick aktueller Stand der Forschung und Vorstellung der deutschen Arbeitsgruppe Fortbildungsveranstaltungen und Kontaktadressen (z.B. Bildung einer Selbsthilfegruppe) Informationen über die Medizinische Klinik I in Köln-Merheim, dem Zentrum für die Diagnostik, Therapie und Erforschung von erblichen Nierenerkrankungen wie dem Alport Syndrom in Deutschland Die Informationen wurden nach aktuellem Stand des medizinischen Wissens erstellt. Sie können dem Patienten nicht das persönliche Gespräch mit dem Nierenspezialisten (Nephrologe) ersetzen. Das Gesetz verbietet zudem die rechtsverbindliche Beratung über das Internet. !! NEU 200 NEU !! Selbsthilfegruppe gegründet Alport Spezial-Sprechstunde für betroffene Familien Schnelle molekulargenetische Diagnostik ohne Nierenbiopsie Präemptive Therapie verzögert das Nierenversagen um über 15 Jahre ! Definition: erbliche Nierenerkrankung, die durch eine zunehmende Verschlechterung der Nierenfunktion mit Hämaturie und Proteinurie, Innenohrschwerhörigkeit und typische Augenveränderungen gekennzeichnet ist.
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

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Alport Syndrome Home Page
alport syndrome Home Page why by
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Alport Workshop
International conferences on alport syndrome were held in 1991 in Oulu, This Fourth International Workshop on alport syndrome was held in Salt Lake City
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.
Hereditary Nephritis Foundation (HNF)
MENU About alport syndrome A simple discussion of Hereditary Nephritis (HN)
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
KFOC - Alport Syndrome
In 1990, it was finally shown that classical Xlinked alport syndrome (XLAS) is caused A rare variant of X-linked alport syndrome has been described in
http://www.kidney.ca/english/publications/factsheets/alport.htm
Alport Syndrome
What happens in alport syndrome?
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
MedlinePlus Medical Encyclopedia: Alport Syndrome
alport syndrome is an inherited disorder (usually Xlinked) involving damage to the kidney, alport syndrome is very similar to hereditary nephritis.
http://www.nlm.nih.gov/medlineplus/ency/article/000504.htm

Extractions: @import url(/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. In women, the disorder is usually mild, with minimal or no symptoms. Women can transmit the gene for the disorder to their children, even if the woman has no symptoms of the disorder. In men, the symptoms are more severe and progress faster.
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
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Alport Syndrome (AS, ATS)
Synonyms, alport syndromelike hereditary nephritis (ASLHN, ASLN) Variants of alport syndrome without mental retardation include alport syndrome with
http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome027.html

Extractions: Syndrome Alport syndrome (AS, ATS) Synonyms Alport syndrome-like hereditary nephritis (ASLHN, ASLN) Dickinson syndrome congenital hereditary hematuria deafness-nephritis syndrome hearing loss-nephritis syndrome hematuria-nephropathy-deafness syndrome hematuric familial nephropathy hematuric hereditary nephritis hemorrhagic familial nephritis hemorrhagic hereditary nephritis hereditary familial congenital hemorrhagic nephritis hereditary hematuria syndrome hereditary interstitial pyelonephritis hereditary nephritis hereditary nephritis-deafness syndrome hereditary nephritis-deafness-abnormal thrombogenesis syndrome Summary Major Features Head and neck: Midfacial hypoplasia and micrognathia. Eyes: Lenticonus, spherophakia, cataracts, macular or peripheral flecks, and hypertelorism Nose: Flat bridge and anteverted nares. Abdomen: Inguinal hernia, lax abdominal muscles, and diastasis recti Hand and foot: Finger abnormalities. Extremities: Joint hyperextensibility.
National Kidney Foundation - Making Lives Better
Information for organ donors and recipients, for patients and professionals, meetings and events and support. An AZ guide for kidney disease and
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
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.
http://www.emedicine.com/med/topic110.htm
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

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:
BBC - Health - Ask The Doctor - Alport's Syndrome
Dr Trisha Macnair looks at the symptoms of Alport's syndrome.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
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
http://www.emedicine.com/ped/topic74.htm

Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Nephrology Last Updated: August 12, 2004 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
Animal Models Of Alport Syndrome Kashtan 17 (8) 1359
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http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Alport Syndrome
How can family members tell whether they have alport syndrome? alport syndrome is the second most common inherited cause of kidney failure.
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. Although the GBM looks normal in childhood, it 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.
Animal Models Of Alport Syndrome Kashtan 17 (8) 1359
Animal models of alport syndrome Clifford E. Kashtan
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Non-Alport Syndromes
Diseases may be confused with alport syndrome simply because they are familial and not Sometimes they will be alport syndrome with unusual features,
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.

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