Alport Syndrome
Alport Syndrome: Introduction
Alport Syndrome:
Alport syndrome (AS) is a genetic disease in which a collagen mutation affects the kidneys, the ears, and the eyes. The syndrome was named for Dr. Alport who in 1927 ... more about Alport Syndrome.
Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
More detailed information about the symptoms,
causes, and treatments of Alport Syndrome is available below.
Symptoms of Alport Syndrome
See full list of 44
symptoms of Alport Syndrome
Alport Syndrome: Complications
Read more about complications of Alport Syndrome.
Disease Topics Related To Alport Syndrome
Research the causes of these diseases that are similar to, or related to, Alport Syndrome:
Medical Textbooks Online about Alport Syndrome
Medical Books Excerpts
- HEMATURIA
- "Algorithmic Diagnosis of Symptoms and Signs" (2003)
- [ read ]
- Hematuria
- "In A Page: Pediatric Signs and Symptoms" (2007)
- [ read ]
- HEMATURIA
- "Differential Diagnosis in Primary Care" (2007)
- [ read ]
- Hematuria
- "Handbook of Signs & Symptoms (Third Edition)" (2006)
- [ read ]
- Hematuria
- "A Pocket Manual of Differential Diagnosis" (1999)
- [ read ]
- Hematuria
- "Professional Guide to Signs & Symptoms (Fifth Edition)" (2006)
- [ read ]
- Hematuria
- "The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter" (2000)
- [ read ]
- Hematuria
- "Signs & Symptoms: A 2-in-1 Reference for Nurses" (2007)
- [ read ]
- Hematuria
- "The Diagnostic Approach to Symptoms and Signs in Pediatrics" (2006)
- [ read ]
- Hematuria
- "Nursing: Interpreting Signs and Symptoms" (2007)
- [ read ]
- HEMATURIA
- "Differential Diagnosis in Primary Care" (2007)
- [ read ]
Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
Wrongly Diagnosed with Alport Syndrome?
Causes of Alport Syndrome
Read more about causes of Alport Syndrome.
Evidence Based Medicine Research for Alport Syndrome
Medical research articles related to Alport Syndrome include:
Click here to find more evidence-based articles on the TRIP Database
Videos for Alport Syndrome
How your kidney stones are treated will depend on the size, location and type of stone you have. Our panel of experts will discuss the different...
Whenever you go to a hospital or clinic for a major procedure or diagnostic test, one of the many forms you are given to sign is an "informed...
Germs are a fact of life and catching an infectious disease like a cold may seem inevitable. But there are simple ways to protect yourself against...
Sleep is necessary to feel refreshed, but now we know sleep actually impacts the way the body functions. Sleeping poorly can affect how often you get...
See full list of 4 related videos
Reseach about Alport Syndrome
Visit our research pages for current research about Alport Syndrome treatments.
Statistics for Alport Syndrome
Stories from Users Related to Alport Syndrome
User Interactive Forums
Read about other experiences, ask a question about Alport Syndrome, or answer someone else's question, on our message boards:
Article Excerpts about Alport Syndrome
Alport syndrome (AS) is a genetic disease in which a collagen mutation affects the kidneys, the ears, and the eyes. The syndrome was named for Dr. Alport who in 1927 described a British family in which many members developed renal disease as well as deafness. He noted that affected men in the family died as a result of their kidney problems, whereas females were less affected and lived until old age.
(Source: Genes and Disease by the National Center for Biotechnology)
Definitions of Alport Syndrome:
A genetically heterogenous disorder characterized by kidney abnormalities with hematuria and proteinuria, sensorineural hearing loss, and eye abnormalities. Two main genetically distinct forms are recognized: An X-linked dominant form (MIM 301050) with additional features including mental retardation, dysmorphic facies with midfacial hypoplasia, elliptocytosis and smooth muscle tumors; and an autosomal recessive form (OMIM 203780). Variants of Alport syndrome without mental retardation include: Alport syndrome with leukocyte inclusions and macrothrombocytopenia (transmitted as an autosomal dominant trait) Synonyms: Fechtner syndrome (named after a patient) Sebastian platelet syndrome (named after a patient) macrothrombocytopathy-deafness-nephritis-leukocyte inclusions syndrome (OMIM 153640) Alport syndrome with macrothrombocytopenia (transmitted as an autosomal dominant trait) Synonyms: Epstein syndrome hereditary macrothrombocytopathia-nephritis-deafness syndrome macrothrombocytopathy-nephritis-deafness syndrome thrombocytopenia-macrothrombocytopathia-nephritis-defames syndrome (OMIM 153650) hereditary nephropathy-deafness syndrome (transmitted as an autosomal dominant trait) Synonym: hereditary nephropathy-sensorineural hearing loss syndrome (OMIM 104200) Alport syndrome with abnormal collagen of basement membrane (transmitted as an X-linked trait) (OMIM 303630)
- (Source - Diseases Database)
Alport Syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Alport Syndrome, or a subtype of Alport Syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Alport Syndrome as a "rare disease".
Source - Orphanet
Contents for Alport Syndrome:
» Next page: What is Alport Syndrome?
Rate This Website
What do you think about the features of this website?
Take our user survey and have your say:
Website User Survey
Medical Tools & Articles:
Next articles:
Tools & Services:
Medical Articles:
Forums & Message Boards
- Ask or answer a question at the Boards:
