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Alport Syndrome Genetics: more detail

Molecular Pathology and Genetics of Alport Syndrome (Contributions to Nephrology)

The Molecular Genetics of X-Linked Alport Syndrome (Acta Biomedica Lovaniensia) by Caiying Guo, 1995-11

Familial nephritis: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Maria, PhD Basile, 2005

Hereditary nephropathy with hearing loss: "Alport's syndrome" (Acta paediatrica Scandinavica : Supplement) by Ulla Marianne Iversen, 1974

lists with details

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

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
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

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.
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

Extractions: 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. 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.
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

Extractions: 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.
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

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.
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
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

Extractions: 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.
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

Extractions: 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.
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/

Extractions: Clinical Resources by Topic: Nephrology Alport Syndrome Clinical Resources Pediatrics Atlases Pathology Genetics ... Miscellaneous Resources See also: Inherited Glomerular Diseases: Access document Glomerular Adaptation to Nephron Loss: Access document Chapter 275: Glomerulopathies Associated with Multisystem Diseases: Table of contents Chapter 351: Inherited Disorders of Connective Tissue: Table of contents Brenner and Rector's The Kidney 6th Ed.-2000 (MD Consult):
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

Extractions: 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
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

Extractions: 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. 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.
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
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

Extractions: 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
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

Extractions: 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.
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

Extractions: 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
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

Extractions: 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
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

Extractions: 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 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
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

Extractions: 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: 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. 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.
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
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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