1. Alport Syndrome Home Page Extensive data base for this disease along with message board, chat and resources.Category Health Conditions and Diseases Glomerular alport syndrome...... Molecular Pathology and genetics of alport syndrome, edited by K Tryggvason,Contributions to Nephrology (Contrib. Nephrol. Basel http://www.cc.utah.edu/~cla6202/ASHP.htm

Alport Syndrome Home Page 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 tried to fix the bad links (still have not figured out Webcounter). Please inform me of any bad links that you find. Thanks.

2. Alport Syndrome - Parents - Boys Town National Research Hospital genetics and Deafness alport syndrome. alport syndrome (AS) is characterized by hereditary nephritis (kidney disease http://www.boystownhospital.org/parents/info/genetics/alport.asp

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.

3. Alport Syndrome General overview of the disease includes details on the genetics, symptoms, detection and treatment of this renal affliction. As outlined above, the genetics of alport syndrome is complex. http://www.kidney.ca/alport-e.htm

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.

4. Molecular Genetics Of Alport Syndrome Molecular genetics of alport syndrome. By David F. Barker, Ph.D. Presentedat Patient, Family and Friends Day Fourth International http://www.cc.utah.edu/~cla6202/DBb.htm

Molecular Genetics of Alport Syndrome By David F. Barker, Ph.D. Presented at Patient, Family and Friends Day Fourth International Workshop on Alport Syndrome April 15, 1999, in Salt Lake City There are many families in the Alport study, so we have tried to develop efficient methods for collagen gene mutation screening. The following table summarizes year by year accumulation of independently ascertained kindreds who actively participate in the University of Utah study, by providing medical information and blood or other specimens. Mutation detection Although we have used various other methods in the past, the most rapid means that we currently have available for molecular diagnosis is mutation detection. By this approach, we attempt to find the specific molecular genetic defect that causes the disease in a particular family. This approach would not be possible unless we knew the specific genes that cause most forms of Alport Syndrome. Since there are 100,000 genes in the human genome and there are thousands of "parts" to each gene that might be defective, it is not now possible to perform a test of ALL of the genes in any single individual. In fact, it is still rather difficult to test even ONE gene in a single individual. Genes vary in size and small genes are easier to "scan" for mutations than big ones. The X-linked Alport gene, COL4A5, happens to be a very large gene. Because COL4A5 is so large, most methods that are used to identify mutations involve breaking the gene down into smaller sub-segments and examining each of these sub-segments for some change that would destroy the normal function of the gene. Since different families almost always have different mutations, the entire gene must be examined in every new family.

5. Alport Workshop What is alport's syndrome Treatment for alport's syndrome symptoms. Questions to ask your doctor, new developments and breakthrough treatments at MelFort.com. alport's syndrome. Journal of Medical genetics. 1997. alport syndrome. Kidney International Supplement. http://www.cc.utah.edu/~cla6202/ASIW.htm

The Fourth International Workshop on Alport Syndrome April 15-17, 1999 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.

6. Genetics And Deafness - Parents - Boys Town National Research Hospital Decoding Genes A Primer on genetics and Molecular Biology; Genetic Evaluationand Counseling for Hearing Loss. Genetic syndromes alport syndrome; Autism and http://www.boystownhospital.org/parents/info/genetics.asp

Genetics and Deafness Basic Concepts Fundamentals of Hearing, Part I Fundamentals of Hearing, Part II Glossary of Genetic Terms Autosomal Dominant Inheritance ... Genetic Evaluation and Counseling for Hearing Loss Genetic Syndromes Alport Syndrome Autism and Deafness: A Psychologist's Perspective How the Balance System Works Branchio-Oto-Renal (BOR) Syndrome ... Waardenburg Syndrome Individual Perspectives My Perspective as a Deaf Person Working with Geneticists My Life with Usher Syndrome Hearing Loss Due to Otosclerosis Living With Autism and Deafness ... Girls and Boys Town

7. MediFocus MedCenter Preview For Alport's Syndrome alport's syndrome. Journal of Medical genetics. 1997. alport syndrome. Kidney International Supplement. http://www.theattorneystore.com/medifocus/MedCenter/NK001.HTM

MediFocus MedCenter Alport's Syndrome Introduction AS affects the basement membranes which are the supporting layers of epithelial and endothelial tissues that make up much of the body's surfaces. The cause is a mutation in a gene for collagen. The disorder is uncommon, affecting about 2 out of 10,000 people. Nephritis is a general term for inflammation of the kidneys. There are several hereditary forms of nephritis. Alport's syndrome (AS) is one of these but is unique because of the additional symptom of hearing loss in the presence of kidney failure. The disorder causes chronic glomerulonephritis with destruction of the glomeruli. The eventual result is end stage renal disease (ESRD) requiring dialysis (or transplantation) develops between adolescence and age 40. The cause of AS is a mutation in a gene for collagen. The disorder is uncommon, affecting about 2 out of 10,000 people. Treatment requires medication, and often, kidney transplant. Get the Facts... With your MediFocus Guide The Medifocus Guide on Alport's Syndrome provides answers to the following important questions and medical issues: What are the most common symptoms of Alport's Syndrome?

8. Alport's Syndrome Information on alport's syndrome, a unique disease that causes hearing loss in the presence of kidney failure. alport's syndrome. Journal of Medical genetics. 1997. alport syndrome. Kidney International Supplement. http://medicalinfoplus.com/conditions/alportssyndrome.html

Alphabetical Listing Of Conditions and Diseases Abdominal Aortic Aneurysm Acute Myelogenous Leukemia Adult Asthma Adult Constipation ... Home Alport's Syndrome Introduction Nephritis is a general term for inflammation of the kidneys. There are several hereditary forms of nephritis. Alport's syndrome (AS) is one of these but is unique because of the additional symptom of hearing loss in the presence of kidney failure. The disorder causes chronic glomerulonephritis with destruction of the glomeruli. The eventual result is end stage renal disease (ESRD) requiring dialysis (or transplantation) develops between adolescence and age 40. AS affects the basement membranes which are the supporting layers of epithelial and endothelial tissues that make up much of the body's surfaces. The cause is a mutation in a gene for collagen. The disorder is uncommon, affecting about 2 out of 10,000 people. The cause of AS is a mutation in a gene for collagen. The disorder is uncommon, affecting about 2 out of 10,000 people. Treatment requires medication, and often, kidney transplant. Get the Facts... With your MediFocus Guide

9. Florida State University College Of Medicine Digital Library Diseases Access document Hereditary Nephritis, Including alport syndrome Accessdocument Pathogenesis and genetics Access document. GeneClinics Homepage http://fsumed-dl.slis.ua.edu/clinical/nephrology/glomerulonephritis/multisystem/

Clinical Resources by Topic: Nephrology Alport Syndrome Clinical Resources Pediatrics Atlases Pathology Genetics ... Miscellaneous Resources See also: Nephrological Clinical Procedure Resources General Nephrology Clinical Resources Alport Syndrome Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Medical Library subscription INFO Chapter 273: Pathogenesis of Glomerular Injury Table of contents Introduction: Access document Clinicopathologic Correlates in Glomerular Disease: Access document Nomenclature: Access document Major Clinicopathologic Entities: Access document Major Determinants of Glomerular Injury: Access document Introduction: Access document Primary Insult: Access document Site of Injury: Access document Speed of Onset, Intensity, and Extent of Injury: Access document Inherited Glomerular Diseases: Access document Glomerular Adaptation to Nephron Loss: Access document Chapter 275: Glomerulopathies Associated with Multisystem Diseases: Table of contents Introduction: Access document Hereditary Diseases with Glomerular Involvement: Access document Alport's Syndrome: Access document Chapter 351: Inherited Disorders of Connective Tissue: Table of contents Alport Syndrome: Access document Treatment: Access document Brenner and Rector's The Kidney 6th Ed.-2000 (MD Consult):

10. 7301: Immunohistochemical Analysis Of Basement Membranes In Patients With Alport genetics, University of Leiden, 3Dept. Pediatrics, Academic Hospital Nijmegen, 4Dept. Pediatrics, Academic Hospital Utrecht. alport syndrome http://www.faseb.org/ashg97/f7301.html

Immunohistochemical analysis of basement membranes in patients with Alport syndrome and Benign Familial Hematuria H.J.M. Smeets , F.T.L. van der Loop , E.D.J. Timmer , M.H. Breuning , H.H. Lemmink , L.A.H. Monnens Dept. Molecular Cell Biology and Genetics, University of Maastricht, Maastricht, The Netherlands, Dept. Human Genetics, University of Leiden, Dept. Pediatrics, Academic Hospital Nijmegen, Dept. Pediatrics, Academic Hospital Utrecht

11. MediFocus MedCenter Preview For Alport's Syndrome Kidney International. 1997; alport's syndrome. Journal of Medical genetics. 1997;alport syndrome. Kidney International Supplement. 1997; alport syndrome. http://ontheweb.bizhosting.com/DirectoryService/MediFocusMedCenter/NK001.HTM

Free Web site hosting - Freeservers.com MediFocus MedCenter Alport's Syndrome Introduction Nephritis is a general term for inflammation of the kidneys. There are several hereditary forms of nephritis. Alport's syndrome (AS) is one of these but is unique because of the additional symptom of hearing loss in the presence of kidney failure. The disorder causes chronic glomerulonephritis with destruction of the glomeruli. The eventual result is end stage renal disease (ESRD) requiring dialysis (or transplantation) develops between adolescence and age 40. AS affects the basement membranes which are the supporting layers of epithelial and endothelial tissues that make up much of the body's surfaces. The cause is a mutation in a gene for collagen. The disorder is uncommon, affecting about 2 out of 10,000 people. Nephritis is a general term for inflammation of the kidneys. There are several hereditary forms of nephritis. Alport's syndrome (AS) is one of these but is unique because of the additional symptom of hearing loss in the presence of kidney failure. The disorder causes chronic glomerulonephritis with destruction of the glomeruli. The eventual result is end stage renal disease (ESRD) requiring dialysis (or transplantation) develops between adolescence and age 40. The cause of AS is a mutation in a gene for collagen. The disorder is uncommon, affecting about 2 out of 10,000 people. Treatment requires medication, and often, kidney transplant.

12. Karl Tryggvason Molecular Pathology And Genetics Of Alport Syndrome Karl Tryggvason Molecular Pathology and genetics of alport syndrome.Molecular Pathology and genetics of alport syndrome Tryggvason http://www.literatur-zentrale.de/Molecular-Pathology-and-G-3805561938.html

Karl Tryggvason Molecular Pathology and Genetics of Alport Syndrome Molecular Pathology and Genetics of Alport Syndrome Tryggvason Karl Microcirculation, Suppl.1... Oncogenesis and Molecular... Brain, Behavior and Evolu... Development and Applicati... ... Home

13. GeneReviews : Alport Syndrome Notes for physicians on alport syndrome (hereditary nephritis). description, differentialdiagnosis, management, genetic counselling, and molecular genetics. http://omni.ac.uk/whatsnew/detail/4002887.html

Back to whats new page. GeneReviews : Alport syndrome Notes for physicians on Alport syndrome (hereditary nephritis). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in August 2001, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Free access to the full-text version of the review requires brief registration. Nephritis, Hereditary / genetics Last modified 26/Apr/2002 [Low Graphics]

14. Alport's Syndrome focuses on alport's syndrome (a genetic disease that causes progressive kidney damage),published in April 2001. Issues covered include the genetics of alport's http://omni.ac.uk/whatsnew/detail/4052205.html

Back to whats new page. Alport's syndrome One in a series of patient-oriented fact sheets produced by the Australian Kidney Foundation. This fact sheet focuses on Alport's syndrome (a genetic disease that causes progressive kidney damage), published in April 2001. Issues covered include the genetics of Alport's, common clinical signs and symptoms, diagnosis, treatment, and current research areas. This 2 page document is in PDF, which requires Adobe Acrobat Reader. Last modified 21/Jun/2002 [Low Graphics]

15. Entrez-PubMed alport syndrome and thin glomerular basement membrane disease. AntiGlomerular BasementMembrane Disease/genetics*; Anti-Glomerular Basement Membrane Disease http://www.biomedcentral.com/pubmed/9727383

PubMed Nucleotide Protein Genome ... Books Search PubMed Protein Nucleotide Structure Genome PMC OMIM Taxonomy Books PopSet ProbeSet 3D Domains UniSTS Domains SNP Journals UniGene NCBI Web Site for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Browser Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Domain Links 3D Domain Links Genome Links ProbeSet Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links Show: Sort Author Journal Pub Date Text File Clipboard Order J Am Soc Nephrol 1998 Sep;9(9):1736-50 Related Articles, Links Alport syndrome and thin glomerular basement membrane disease. Kashtan CE. Division of Pediatric Nephrology, University of Minnesota Medical School, Minneapolis 55455, USA. Publication Types: Review Review, Tutorial PMID: 9727383 [PubMed - indexed for MEDLINE] Summary Brief Abstract Citation ASN.1

16. Entrez-PubMed P, Amatucci A, Kalluri R. Department of genetics, Boys Town National ResearchHospital, Omaha, Nebraska, USA. cosgrove@boystown.org alport syndrome is a http://www.biomedcentral.com/pubmed/11073824

PubMed Nucleotide Protein Genome ... Books Search PubMed Protein Nucleotide Structure Genome PMC OMIM Taxonomy Books PopSet ProbeSet 3D Domains UniSTS Domains SNP Journals UniGene NCBI Web Site for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Browser Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Domain Links 3D Domain Links Genome Links ProbeSet Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links Show: Sort Author Journal Pub Date Text File Clipboard Order Am J Pathol 2000 Nov;157(5):1649-59 Related Articles, Links Integrin alpha1beta1 and transforming growth factor-beta1 play distinct roles in alport glomerular pathogenesis and serve as dual targets for metabolic therapy. Cosgrove D, Rodgers K, Meehan D, Miller C, Bovard K, Gilroy A, Gardner H, Kotelianski V, Gotwals P, Amatucci A, Kalluri R. Department of Genetics, Boys Town National Research Hospital, Omaha, Nebraska, USA. cosgrove@boystown.org

17. Disorders & Syndromes Information on genetics, HHH syndromic Contains information on alport syndrome,BranchioOto-Renal syndrome, Jervell and Lange-Nielsen, Mitochondrial syndromes http://www.ibwebs.com/Disorders.htm

Happy Birthday Beth! Disorders and syndromes which cause hearing loss. This list is by no means inclusive. I have described the disorders to the best of my knowledge. These statements should not be meant as the absolute final word. Always discuss any issues, concerns, or questions you have with your doctor. (this page still under construction) Info on Genetics Alport Syndrome Auditory Neuropathy Auditory Processing Disorders ... Pendred Syndrome General Information Hearing and hearing disorders Hearing Disorders Hearing and Balance from the National Institutes of Health Disorders This is a very good list of disorders which cause hearing loss. Medical Resources Society for Neuroscience: Brain Briefings Very interesting site with useful information on a variety of disorders, including hearing loss. Center for Hearing Loss in Children at Boys Town Sudden Sensorineural Hearing Loss Disorders This is located at my friend Kay's web site. She has much more listed than I do. Please go here if you are looking for something I may not have listed here. Information on Genetics HHH syndromic Contains information on Alport Syndrome, Branchio-Oto-Renal Syndrome, Jervell and Lange-Nielsen, Mitochondrial

18. Alports Syndrome 1999. alport syndrome. A review of the ocular manifestations. Ophthalmic genetics.1997. alport's syndrome. Journal of Medical genetics. 1997. alport syndrome. http://www.crashcards.com/Medifocus Guides/alportssyndromeNK001.htm

When there's " No Time for Calculations, No Room for Error " Pediatric Emergency Resuscitation Guide HOME PRODUCT COST CEU'S ... 100.TOP.NURSING.SITES TRAVEL.NURSES.NEEDED CALCULATORS CEU'S CHILDREN'S.HOSPITALS COLLECTIBLES ... Send this site to a friend! ARTICLES: Th e N ursing ... Advisories Search for over 200 chronic and life-threatening conditions at the CrashCards MedCenter Directory Rated: by NursingHands focusIN Specialty Web Network MediFocus MedCenter Alport's Syndrome Order the Full Guide Introduction Nephritis is a general term for inflammation of the kidneys. There are several hereditary forms of nephritis. Alport's syndrome (AS) is one of these but is unique because of the additional symptom of hearing loss in the presence of kidney failure. The disorder causes chronic glomerulonephritis with destruction of the glomeruli. The eventual result is end stage renal disease (ESRD) requiring dialysis (or transplantation) develops between adolescence and age 40. AS affects the basement membranes which are the supporting layers of epithelial and endothelial tissues that make up much of the body's surfaces. The cause is a mutation in a gene for collagen. The disorder is uncommon, affecting about 2 out of 10,000 people. Nephritis is a general term for inflammation of the kidneys. There are several hereditary forms of nephritis. Alport's syndrome (AS) is one of these but is unique because of the additional symptom of hearing loss in the presence of kidney failure. The disorder causes chronic glomerulonephritis with destruction of the glomeruli. The eventual result is end stage renal disease (ESRD) requiring dialysis (or transplantation) develops between adolescence and age 40.

19. Alport Syndrome Resource Updates Latest books on alport syndrome Books Molecular Pathology and genetics of alportsyndrome (Contributions to Nephrology, Vol 117) by K. Tryggvason The http://www.health.xq23.com/inst/Research_Updates/Alport_Syndrome.html

Alport Syndrome resources. Information for medical researchers, health professionals, bioscientists, and policy makers. Recommended References. [see index for total category] KEY ABSTRACTS: PUBMED Citations: Innovations and emerging technologies in Alport Syndrome, Patent List (when available) for Alport Syndrome: 6,451,994: 23413, a novel human ubiquitin protease 6,447,989: Kidney disease detection and treatment 6,444,802: Human aminopeptidase 6,420,153: 18232, a novel dual specificity phosphatase and uses therefor 6,403,358: 21529, a novel adenylate cyclase 6,399,655: Method for the prophylactic treatment of cataracts 6,384,077: Highly purified EPA for treatment of schizophrenia and related disorders 6,342,214: Method for viral vector delivery 6,337,187: 18891, a novel human lipase 6,329,171: 23484, A novel human ubiquitin protease 6,323,328: Human citrate synthase homolog 6,294,350: Methods for treating fibroproliferative diseases 6,277,574: Genes associated with diseases of the kidney 6,277,558: .alpha.-3 chain type IV collagen polynucleotides

20. Molecular Genetics See Trends in genetics, March, 1995, for more explanation. Another example of a collagenmutation is alport syndrome, a condition characterized by progressive http://info.med.yale.edu/genetics/clinical/HG500/molecular_genetics.htm

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