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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

Health Library - Alport Syndrome
alport syndrome. Synonyms Disorder Subdivisions General Discussion Resources Sometypes of alport syndrome also affect vision and hearing. Resources.
http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=
Online Health Analysis: Conditions: Alport Syndrome
alport syndrome, Conditions that suggest it It can lead to GLOSSARY AlportSyndrome alport syndrome is caused by a mutation in a gene for collagen.
http://www.digitalnaturopath.com/cond/C519369.html

Extractions: Conditions that suggest Alport Syndrome: Organ Health Kidney Failure Alport Syndrome causes progressive kidney damage. This means that the glomeruli undergo a gradual but persistent process of destruction, leading to kidney failure in many cases. Boys with Alport Syndrome inevitably develop kidney failure, but kidney failure in girls is unusual. The age at which boys with Alport Syndrome develop kidney failure varies from family to family. It may occur as early as 15-20 years of age, but in some families, kidney failure does not develop until the men are 40-50 years of age. Alport Syndrome can lead to: Organ Health Kidney Failure Alport Syndrome causes progressive kidney damage. This means that the glomeruli undergo a gradual but persistent process of destruction, leading to kidney failure in many cases. Boys with Alport Syndrome inevitably develop kidney failure, but kidney failure in girls is unusual. The age at which boys with Alport Syndrome develop kidney failure varies from family to family. It may occur as early as 15-20 years of age, but in some families, kidney failure does not develop until the men are 40-50 years of age. Alport Syndrome: Alport syndrome is caused by a mutation in a gene for collagen. This inherited disorder is uncommon, affecting about 2 out of 10,000 people. It causes chronic glomerulonephritis with destruction of the glomeruli (the tiny blood vessels within the kidneys that filter the blood) and eventually progresses to end-stage renal disease at an early age. 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.
Alport Syndrome
alport syndrome. Complete site with links on alport syndrome. HOME.
http://www.communicationdisorders.net/AlportSyndrome.html
Welcome To Medifocus!
alport syndrome, NK001. Medifocus people. Treatment requires medication,and often, kidney transplant. More Information on alport syndrome.
http://www.medifocus.com/zNK001.asp?a=a
Alport Syndrome
Category Causes of Hearing Loss and Hearing Loss in General AlportSyndrome (Source Boystown Research Registry). alport syndrome
http://www.odc.state.or.us/tadoc/hloss2.htm

Extractions: (Source: Boystown Research Registry) 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. Mutations (changes from the normal genetic structure) responsible for AS have been found in a collagen gene, COL4A5, which is on the long arm of the X chromosome (Xq22). Several different mutations in the COL4A5 gene have been identified, which are thought to relate to the variation in age of onset and severity among families with AS. At this time a gene for autosomal dominant AS has not been identified.
GeneReviews : Alport Syndrome
Back to whats new page. GeneReviews alport syndrome, Notes for physicianson alport syndrome (hereditary nephritis). This document
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
Rikshospitalet: Senter For Sjeldne Sykdommer Og Syndromer
alport syndrome. alport syndrome is a hereditary kidney disorder whichdevelops gradually. alport syndrome affects people of both genders.
http://ssss.oslonett.no/side.php?aid=228&s=english
Absence Of Ocular Manifestations In Autosomal Dominant Alport Syndrome Associate
Research report. Absence of ocular manifestations in autosomal dominantalport syndrome associated with haematological abnormalties.
http://www.szp.swets.nl/szp/journals/og214217.htm

Extractions: 2000, Vol.21, No.4, pp. 217-225 D. Colville , Y.Y. Wang , R. Jamieson , F. Collins , Jeni Hood and J. Savige Austin and Repatriation Medical Centre, Ophthalmology Unit, Heidelberg, Australia New Children's Hospital, Clinical Genetics Service, Westmead, Australia Murdoch University, School of Veterinary Pathology, Perth, Australia
Alport Syndrome : Meddie Health Search
ITEMS LINKS A Healthy Me A detailed look at alport syndrome and itscauses, symptoms, diagnosis, treatment and prevention. (Rating
http://www.meddie.com/search/Health/Conditions_and_Diseases/Urological_Disorders
Florida State University College Of Medicine Digital Library
alport syndrome Clinical Resources. Miscellaneous alport syndrome Clinical ResourcesHealth Reviews for Primary Care Providers on the Internet 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):
Florida State University College Of Medicine Digital Library
alport syndrome Patient/Family Resources. Miscellaneous alport syndromePatients/Family Resources Healthfinder (US DHHS) Homepage
http://fsumed-dl.slis.ua.edu/patientinfo/nephrology/glomerulonephritis/multi/alp
Alport Syndrome | Principal Health News
alport syndrome affects aboutone in 5,000 Americans, striking men more often and severely than women. alport syndrome. Turkington, Carol A.
http://www.principalhealthnews.com/topic/topic100586414

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:
JAX®Mice Database - Mouse/Human Gene Homologs: Alport Syndrome
Search Criteria Area is Mouse/Human Gene Homologs alport syndrome .JAX®Mice Strains. Stock Number, Strain Name (link to Data Sheet
http://jaxmice.jax.org/jaxmicedb/html/model_981.shtml
Health Library - Alport Syndrome
alport syndrome. Synonyms Disorder Subdivisions General Discussion Resources Sometypes of alport syndrome also affect vision and hearing. Resources.
http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid
Alport's Syndrome
Information on Alport's Syndrome, a unique disease that causes hearing loss inthe presence of kidney failure. Alport's Syndrome. 2000; alport syndrome.
http://www.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.
Welcome To ENH.org - Health Encyclopedia: Alport Syndrome
alport syndrome. Causes, incidence, and risk factors alport syndromeis very similar to hereditary nephritis. There may be nerve
http://www.enh.org/Encyclopedia/ency/article/000504.asp

Extractions: Disease Reference Injury Reference Test Reference Nutrition Reference ... Symptoms Reference Disease Injury Nutrition Poison ... Z Definition: Alport syndrome is an inherited (usually X-linked) disorder 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.
CCHS Clinical Digital Library
alport syndrome Clinical Resources. Miscellaneous alport syndrome Clinical ResourcesHealth Reviews for Primary Care Providers on the Internet Homepage
http://cchs-dl.slis.ua.edu/clinical/nephrology/glomerulonephritis/multisystem/al

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):
Health Library Find Information On Alport Syndrome At
Find information on alport syndrome at MerckSource. Learn more about Alportsyndrome alport syndrome. Definition alport syndrome is an inherited
http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns
Alport Syndrome
Kidney. alport syndrome. alport syndrome is an inherited condition thatresults in kidney disease. alport syndrome What is alport syndrome?
http://tjsamson.client.web-health.com/web-health/topics/GeneralHealth/generalhea
CLINACAL ASPECTS OF THE ADULT ALPORT SYNDROME IN FIVE
CLINACAL ASPECTS OF THE ADULT alport syndrome IN FIVE. FAMILIES FROM THE SAMEGEOGRAPHICAL AREA. JP Op de Laak 1 , NH Allert 2, BK Kramer 3, B. Lorenz 1.
http://www.dog.org/engl/abstract97/P534.html

Extractions: CLINACAL ASPECTS OF THE ADULT ALPORT SYNDROME IN FIVE FAMILIES FROM THE SAME GEOGRAPHICAL AREA. J.P. Op de Laak 1 , N. H. Allert 2, B. K. Kramer 3, B. Lorenz 1 Patients and Methods: Results: Conclusions: In tbc 2 5milies, glomerulonephitis af the adult type together with a sensorineural dea5ess and the ocular changes correspoad to the rare type III Alport syndmme. The isolated cases are compatible with the same type. Molecular studies are on the way to clarify whether tbe 5 hmilies are genetically linked because of the striking clustering of this rare form af Alport syndrome in a small geographical area. Abt fbr Kinderophtbalmologie, Strabismologie und OphthalmogenetBc in der Klinik und PoliWinik fllr Augenheilhede', Klinik und Poliklinik fUr Hals-Nasen-Ohren-Heilkunde~, Medizinische Klinik II, Klinihun der University Regensburg, D-93042 Regensburg. We are not responsible for error in spelling due to the fact that these abstracts were scanned using the latest OCR technology. Tables and graphs will not be included in any of these abstracts.

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