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

41. 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=

42. 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
Alport Syndrome Last updated: Jan 28, 2003 THE ANALYST TM Home FAQ Start The Analyst
Alport Syndrome
Conditions that suggest it
It can lead to...
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.
KEY Weak or unproven link Proven definite or direct link
GLOSSARY
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.

43. Alport Syndrome
alport syndrome. Complete site with links on alport syndrome. HOME.
http://www.communicationdisorders.net/AlportSyndrome.html
Alport Syndrome
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44. 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

45. 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
Deaf and Hard of Hearing Access Program (DHHAP)-Technical Assistance Center
DHHAP Information and Technical Assistance Series
Category: Causes of Hearing Loss and Hearing Loss in General
Alport Syndrome
(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.

46. 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

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]

47. 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

48. 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
Ophthalmic Genetics
2000, Vol.21, No.4, pp. 217-225
Research report
Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties
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
Keywords: Anterior lenticonus , autosomal dominant Alport syndrome , corneal dystrophy , dot-and-fleck retinopathy , Fechtner syndrome .

49. 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
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Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Glomerular : Alport Syndrome ITEMS: LINKS:
  • A Healthy Me
    A detailed look at alport syndrome and its causes, symptoms, diagnosis, treatment and prevention.
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  • Alport Syndrome
    Extensive data base for this disease along with message board, chat and resources.
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  • Fact Sheets
    A brief article about alport syndrome, its symptoms, diagnosis, who gets it and a discussion about hearing loss.
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  • Iafrica Ask the Doctor
    A mother asks for and receives general information about alport syndrome.
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  • Mylifepath
    In depth look at alport syndrome including a definition, description, causes and symptoms, diagnosis, treatment, prognosis, prevention, key terms and further reading. (Rating: 0.00 Votes: 0) Rate It
  • Pediatric Database A definition of alport syndrome followed by clinical features, investigation and management. (Rating: 0.00 Votes: 0)

50. 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/
Clinical Resources by Topic: Nephrology
Alport Syndrome Clinical Resources
Pediatrics Atlases Pathology Genetics ... Miscellaneous Resources See also:

51. 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
Patient/Family Resources by Topic: Nephrology
Alport Syndrome Patient/Family Resources
Spanish Miscellaneous See also:

52. 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

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Causes and symptoms Diagnosis ... Resources Definition A hereditary disease of the kidneys that primarily affects men, causing blood in the urine, hearing loss and eye problems. Eventually, kidney dialysis or transplant may be necessary. Description 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:

53. 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

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(link to Data Sheet) Strain Type Standard Supply Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. (1 stocks) Back to Top Research Research Resources Mouse Genome Informatics ... The Jackson Laboratory

54. 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

55. 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
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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.
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56. 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

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Alport syndrome
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
Alternative Names: Hereditary nephritis; Hematuria - nephropathy - deafness; Hemorrhagic familial nephritis; Hereditary deafness and nephropathy
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.
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.
The disorder causes chronic glomerulonephritis with destruction of the glomeruli. Initially, there are no symptoms. Progressive destruction of the glomeruli causes

57. 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
Clinical Resources by Topic: Nephrology
Alport Syndrome Clinical Resources
Pediatrics Atlases Pathology Genetics ... Miscellaneous Resources See also:

58. 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

59. 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

60. 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
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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