Alport Syndrome: Introduction
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
Home Diagnostic Testing
Home medical testing related to Alport Syndrome:
- Child Behavior: Home Testing
- Child General Health: Home Testing
Wrongly Diagnosed with Alport Syndrome?
Alport Syndrome: Related Patient Stories
Alport Syndrome: Deaths
Read more about Deaths and Alport Syndrome.
Alport Syndrome: Complications
Read more about complications of Alport Syndrome.
Causes of Alport Syndrome
Read more about causes of Alport Syndrome.
Disease Topics Related To Alport Syndrome
Research the causes of these diseases that are similar to, or related to, Alport Syndrome:
Alport Syndrome: Undiagnosed Conditions
Commonly undiagnosed diseases in related medical categories:
Misdiagnosis and Alport Syndrome
Mild worm infections undiagnosed in children: Human worm infestations, esp. threadworm, can be overlooked in some cases,
because it may...read more »
Unnecessary hysterectomies due to undiagnosed bleeding disorder in women: The bleeding disorder
called Von Willebrand's disease is quite common in women, but often fails to be...read more »
Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who
had been institutionalized and treated for mental illness
because he suffered from sudden...read more »
Dementia may be a drug interaction: A common scenario in aged care is for
a patient to show mental decline to dementia.
Whereas this can, of course, occur due to various medical conditions,
such as a stroke or Alzheimer's...read more »
Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the
more feared conditions for a child with abdominal pain, it can be over-diagnosed
(it can, of course, also fail to be...read more »
Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue
with hyperension, arises in relation to the simple equipment used to test blood pressure.
The "cuff" around the arm to measure blood...read more »
Mild traumatic brain injury often remains undiagnosed: Although the symptoms
of severe brain injury are hard to miss,
it is less clear for milder injuries, or even those causing a mild concussion diagnosis.
The condition goes by...read more »
MTBI misdiagnosed as balance problem: When a person has symptoms
such as vertigo or dizziness, a diagnosis of brain injury may go overlooked.
This is particularly true of mild traumatic...read more »
Interstitial cystitis an under-diagnosed bladder condition: The medical
condition of interstitial cystitic is a bladder condition that can be
misdiagnosed as various...read more »
Brain pressure condition often misdiagnosed as dementia: A condition
that results from an excessive pressure of CSF within the brain is often misdiagnosed.
It may be misdiagnosed as ...read more »
Post-concussive brain injury often misdiagnosed: A study found that soldiers who had
suffered a concussive injury in battle often were misdiagnosed on their return.
A variety of...read more »
Children with migraine often misdiagnosed: A migraine often fails to be
correctly diagnosed in pediatric patients.
These patients are not the typical migraine...read more »
Psoriatic arthritis often undiagnosed cause of joint conditions: Patients with the skin condition psoriasis
can also have the related arthritis subtype called "psoriatic arthritis".
This arthritic condition tends to be overlooked, even...read more »
Read more about Misdiagnosis and Alport Syndrome
Alport Syndrome: Research Doctors & Specialists
Research related physicians and medical specialists:
- Muscle and Orthopedic Specialists:
- Bone, Joint and Orthopedic Specialists:
- Neurology (Brain/CNS Specialists):
- Child Health Specialists (Pediatrics):
- more specialists...»
Other doctor, physician and specialist research services:
Hospitals & Clinics: Alport Syndrome
Research quality ratings and patient safety measures
for medical facilities in specialties related to Alport Syndrome:
Hospital & Clinic quality ratings »
Choosing the Best Hospital:
More general information, not necessarily in relation to Alport Syndrome,
on hospital performance and surgical care quality:
Alport Syndrome: Rare Types
Rare types of diseases and disorders in related medical categories:
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
Alport Syndrome: Animations
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Research about Alport Syndrome
Visit our research pages for current research about Alport Syndrome treatments.
Statistics for Alport Syndrome
Alport Syndrome: Broader Related Topics
Types of Alport Syndrome
User Interactive Forums
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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
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