Some call it Alport Syndrome and some call it Alport's Syndrome. Why?
Alport Syndrome Foundation - Hope | Action | SupportIt all depends whom you are talking to or getting your information from. Physicians refer to the disease as Alport's Syndrome. In genetics it is referred to as Alport Syndrome. It has also been known by many other names over the years - such as Hereditary Familial Congenital Hemorrhagic Nephritis (in 1912, 1915, 1923, and 1927), Hereditary and Familial Nephritis (in 1924), Hereditary Interstitial Pyelonephritis (in 1953), and Hereditary Chronic Nephritis (in 1958).
Related QuestionsWhat is Alport Syndrome?
Alport Syndrome Foundation - Hope | Action | SupportAlport Syndrome is an inherited disease of the kidney that can also affect the inner ear (cochlea) and eye. It is caused by genetic mutations that affect the type IV collagen family of proteins. Type IV collagen is a major part of important tissue structures called basement membranes found in the kidney, inner ear, and eye. Generally, Alport Syndrome affects boys more than girls because 80% of the time the disease is passed on by a mutation on the X chromosome (called X-linked Alport Syndrome).
Related QuestionsCan I be cured of Alport Syndrome?
Alport Syndrome Foundation - Hope | Action | SupportBeing a genetic disorder, there is no 'cure' for Alport Syndrome at this time. There is some promise in stem cell research, but results from this research are years away. That should not be discouraging when we consider that the genetics of Alport Syndrome has only been identified in the past 20 years. For more information about current Alport Syndrome research see Links.
Related QuestionsHow do I know what type of Alport Syndrome I have?
Alport Syndrome Foundation - Hope | Action | SupportThe name of each form of Alport Syndrome corresponds to the mode of inheritance. For example, the XLAS or X-linked Alport Syndrome is associated with a mutation of the alpha-5 chain type IV collagen on the X chromosome. The ARAS and ADAS mutations are associated with the alpha-3 and alpha-4 chain type IV collagen. Understanding what type, or genetic form, of Alport Syndrome allows a person to understand potentially how he/she acquired Alport Syndrome.
Related QuestionsHow do I find a doctor to treat Alport Syndrome?
Alport Syndrome Foundation - Hope | Action | SupportA doctor that specializes in the treatment of the kidneys is called a Nephrologist. You can find a Nephrologist by asking your general (family) doctor for a referral and/or your insurance company for a list of nephrologists they work with. See Physician Contacts for a list of physicians that have treated others with Alport Syndrome.
Related QuestionsWhat can the Alport Syndrome Foundation do for me and/or my family?
Alport Syndrome Foundation - Hope | Action | SupportThe answer to this can be found in the tag line of the Alport Syndrome Foundation logo Hope, Action, Support. It is our intent to provide a central location for information about Alport Syndrome and available support resources. It is also our intent to organize and promote research that advances our understanding and treatment of Alport Syndrome.
Related QuestionsWhat is Asperger's Syndrome?
Autism Society of America: Autism FAQWhat distinguishes Asperger's Syndrome from autism is the severity of the symptoms and the absence of language delays. Children with Asperger's may be only mildly affected and frequently have good language and cognitive skills. To the untrained observer, a child with Asperger's may seem just like a normal child behaving differently. They may be socially awkward, not understanding of conventional social rules, or show a lack of empathy.
Related QuestionsWhat is an epileptic syndrome?
UC Davis Comprehensive Epilepsy Program - FAQ about epilepsyUntil recently, neurologists classified the types of seizures, such as focal or generalized convulsive. The past few decades, research has leaned toward determining if the patient has an epileptic syndrome, or a specific type occurring under certain conditions. These conditions could include a particular clinical setting at a certain age with other accompanying findings like radiological tests and EEGs. Absence--or petit mal--seizures can illustrate the value of a syndrome approach.
Related QuestionsWhat is a Syndrome?
CdLS USA Foundation: Facts About CdLSSyndrome" is a medical term for a condition in which there is a collection of signs (observable body changes) and symptoms (problems observed by the patient) recognizable by a doctor's exam. Individuals with a syndrome may not have all of its associated signs and symptoms, but they must have enough to be considered "diagnostic." Conversely, because someone may display some of the signs and symptoms of a syndrome, does not necessarily mean they have it.
Related QuestionsWhat is HELLP Syndrome?
Preeclampsia FAQHELLP Syndrome occurs in 4 percent to 12 percent of the women who have preeclampsia. It is one of the most severe forms of preeclampsia. HELLP stands for: hemolysis, elevated liver enzymes, and lowered platelets. HELLP Syndrome most often affects the liver, causing stomach and right shoulder pain. HELLP Syndrome is most dangerous because it can occur before you exhibit the classic symptoms of preeclampsia. It is often mistaken for the flu or gallbladder problems.
Related QuestionsIs Down syndrome inherited?
Down Syndrome: FAQOnly 3 to 5% of cases are inherited; the rest arise as an accident of chromosome arrangement during meiosis. For details, see my essay on the origin of trisomy 21 or Dr. Paul Benke's essay on the types of DS, and the risk and recurrence risk of DS. No. Down syndrome occurs at conception, so nothing in the pregnancy can cause Down syndrome to occur. As for prior to conception, the research all shows that drug or alcohol use does not increase the risk of having a child with DS.
Related QuestionsWhat is Tourette Syndrome?
Tourette Syndrome FAQTourette Syndrome TS) is a neurological disorder characterized by tics -- involuntary, rapid, sudden movements or vocalizations that occur repeatedly in the same way.
Related QuestionsBlog For Down Syndrome & FAQ About Down SyndromeDown syndrome is a chromosomal disorder that includes some degree of mental retardation, as well as a combination of birth defects, including neurologic impairment, characteristic facial features and, often, heart defects and visual and hearing impairment. The severity of all these problems varies greatly among affected individuals. Down syndrome is one of the most common genetic birth defects, affecting approximately one in 800 to 1,000 babies.Related Questions
Our Services | Perinatal PartnersDown syndrome is a genetic condition that causes delays in physical and intellectual development. Children with Down syndrome are also at an increased risk for certain problems, including congenital heart defects. While children and adults with Down syndrome have developmental delays, they are more like other people than they are different. For additional information on Down syndrome, you may wish to contact the National Association for Down syndrome at www.nads.Related Questions
What is Down's Syndrome?
FAQDown's Syndrome is a genetic condition caused by extra genetic material (genes) from the 21st chromosome. The extra genes cause certain characteristics that we know as Down's syndrome. Individuals with Down's Syndrome also have all the other genes given to them by their parents. As a result, they have a combination of features typical of Down's Syndrome on top of the individual features from their parents.
Related QuestionsUC Davis Children's Hospital: Child Neurology Clinic Â- freq...Down syndrome is the most prominent cause of birth defects. It also is known as “Trisomy 21” because Down syndrome is the most prominent cause of birth defects. It also is known as “Trisomy 21” because it results from an abnormality of the 21st chromosome. Down syndrome typically affects facial appearance, height and size and shape of the hands, and also can produce abnormalities of the heart and digestive system that may require corrective surgery.Related Questions
MUSC Children's Hospital - Down Syndrome CenterDown syndrome is a genetic disorder that includes a combination of birth defects, including some degree of mental retardation, characteristic facial features and, often, heart defects, visual and hearing impairment, and other health problems. The severity of all of these problems varies greatly among affected individuals. Down syndrome is one of the most common genetic birth defects, affecting approximately one in 800 to 1,000 babies.Related Questions
WHAT IS THE LONG QT SYNDROME (LQTS)?
QTsyndrome.ch - Frequently Asked Questions (FAQ)The long QT syndrome (LQTS) is causing an abnormality of the heart's electrical system. The mechanical function of the heart is entirely normal. The electrical problem is due to defects in heart muscle cell structures called ion channels. These electrical defects predispose affected persons to a very fast heart rhythm (arrhythmia) called "Torsade de Pointes" (TdP) which leads to sudden loss of consciousness (syncope) and may cause sudden cardiac death.
Related QuestionsHOW IS LONG QT SYNDROME DIAGNOSED?
QTsyndrome.ch - Frequently Asked Questions (FAQ)The diagnosis is commonly suspected or made from the electrocardiogram (ECG). All children and young adults should have an ECG as part of their evaluation for an unexplained loss of consciousness episode. On the other hand, there is the possibility to check blood samples for known gene mutations that cause LQTS.
Related QuestionsI might have carpal tunnel syndrome. Should I see a Chiropractor?
Chiropractic Care, Acupuncture, & Massage Therapy. Austi...Carpal tunnel syndrome (CTS) usually begins with occasional hand and wrist numbness. Most people ignore CTS when it is in its early stages. Over time, the numbness persists and turns into pain and hand weakness. People at risk for CTS include computer operators and anyone who performs a repetitive hand motion frequently. Early detection and treatment is important. Since different people have different pain thresholds, it's best to be screened by a trained professional.
Related QuestionsWhat is Lowe syndrome?
Frequently Asked QuestionsLowe syndrome (LS) is a rare genetic condition affecting males that causes physical and mental handicaps and medical problems. Also called the oculo-cerebro-renal syndrome of Lowe (OCRL), it was first described in 1952 by Dr. Charles Lowe and colleagues.
Related QuestionsWhat is Poland's Syndrome?
FAQ Frequently Asked Questions about Poland's Syndrome at ww...Poland syndrome is a unique pattern of one-sided malformations that are present at birth. Poland syndrome is characterized by a defect of the chest (pectoralis) muscle on one side of the body and webbing of the fingers (cutaneous syndactyly) of the hand on the same side (ipsilateral hand).
Related QuestionsWhat is a "locked-in" syndrome?
Frequently Asked Questions about Mild and Severe Brain Injur...For a long time we thought that individuals who were in a state of diminished consciousness were unable to respond. Through years of working with people with severe brain injuries and diminished responding capacities we have learned that the person may be receiving information but be unable to produce an effective response. Some people may communicate with an eye blink, a facial gesture or even by moving a toe.
Related QuestionsWhat is Metabolic Syndrome?
Rite Aid : Faq'sMetabolic Syndrome is a group of disorders and symptoms that when present increases ones risk of coronary artery disease and stroke. These disorders include: Abdominal obesity (where waist circumference is greater than 40 inches in men and greater than 35 inches in women) It starts with insulin resistance, which is a reduced sensitivity of the body's tissues—primarily the liver and muscles—to the action of insulin. The following FAQ explains this:
Related QuestionsWhat is Post Embolization Syndrome?
Fibroid Frequently Asked QuestionsAbout 40% of women experience PES. It is a result of tissue necrosis from the infarcted myomata. PES is characterized by pain, fever, high white blood cell count, nausea and vomiting. This should be followed closely to distinguish it from a complicating infection.
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