X-linked is the most common and it occurs when there is a mutation in the gene COL4A5. A woman who is a carrier has a 50% chance in each pregnancy of transmitting the mutated gene to a son who will develop AS, or to a daughter who will be a carrier. Autosomal recessive occurs when both parents are carriers and is caused by mutations in both copies of the COL4A3 gene or COL4A4 gene. Each child has a twenty-five percent chance of developing alport syndrome, and a fifty percent chance of being a carrier. Autosomal dominant is the rarest type, and each child has a fifty percent chance of developing the mutated genes. There is limited amount of families with this type and little is actually known about it.
In women, the disease is less severe, however during pregnancy the condition can worsen. Women with Alport’s syndrome can have an accelerated form of the disease during pregnancy with worsening kidney function, hypertension, and they can also develop preeclampsia. The first thing to be d...
... middle of paper ...
...lonephritis, hearing loss before the age of 30, and end-stage kidney failure.
My conclusions with doing this report on alport syndrome is that I hope more research is done on it. They have done test on mice, but it didn’t generate great results and outstanding knowledge of the disease. I can see why there are only four documented pregnancy cases because I can understand that they would not want to pass the disease on to their children. Most do seem to live a healthy long life, but there are people who do go through dialysis and they are patiently waiting for that desperately needed kidney transplant. I am glad that I don’t know anyone with the disease and have to watch them go through the battle of renal failure. I have to say that I don’t regret picking this project even though it was tough to find information on it because there really is little known about it.
Need Writing Help?
Get feedback on grammar, clarity, concision and logic instantly.Check your paper »
- Apert Syndrome (AKA Alport syndrome) is a genetic defect which can be inherited from a parent who has Apert or a fresh mutation. It falls under the broad classification of craniofacial/limb anomalies. Approximately 1 per 160,000 to 200,000 live births inherit it. Some symptoms that Apert sufferers have are various heart defects, ear infections, severe acne, increased incidence of eye injuries, and many more. The skull is prematurely fused and unable to grow normally, and the fingers and toes are fused together in varying degrees.... [tags: essays research papers fc]
400 words (1.1 pages)
- Today we live in a society were appearance is everything. From what you’re wearing to the brands you buy, and even how you carry yourself. In today’s society people are always ready to judge you based on your appearance; this ultimately means bad news for those diagnosed with TS, (tourette syndrome). It is the objective of this paper to teach and make aware of what TS is how it affects the person’s life and what we can do it about. After all TS affects 1 in 1000 to 2000 people. It is a syndrome that is found among all races that affects males, more than females.... [tags: tourette syndrome, tourettes,]
2209 words (6.3 pages)
- The sign and symptoms vary from mild to severe according to types of Down syndrome. For example; mosaicism Down syndrome will have less sign and symptoms because only few cells have extra copies of chromosome 21 and other cells are normal. The most common physical features include flattened face, a short neck, small ears, small hands, and feet, short in height (Centers for Disease Control and Prevention, 2014). Moreover, all children with this birth defect are affected with mental retardation. Wiseman, Alford, Tybulewicz, and Fisher (2009) stated chromosome 21 is responsible for mental retardation and health problems in Down syndrome because Trisomy of 21 has a significant impact on the deve... [tags: Down syndrome, Chromosome, Prenatal diagnosis]
1639 words (4.7 pages)
- Introduction Eisenmenger Syndrome (ES) is a heart defect that was first giving the name in 1897 (Fukushima, 2015). This syndrome happens when the birth defect is not treated before the lungs’ arteries become damaged. Eisenmenger Syndrome is named after Victor Eisenmenger a man who had a patient who showed symptoms such as, breathing complications and skin that was turning a bluish color. The autopsy of this patient lead him to discover a ventricular septal defect [VSD] (El-Chami, 2014), that causes a hole in the wall on the right and left ventricular.... [tags: Heart, Blood, Myocardial infarction, Cardiology]
991 words (2.8 pages)
- Patellofemoral Pain Syndrome (PFPS), also known as anterior knee pain, is a painful overuse syndrome involving the tissues of the knee. 18% of individuals that suffer from joint pain experience their pain in the knee.1 PFPS specifically affects 22/1000 persons per year in the United States, with females tending to be twice as common as males.2 PFPS is characterized by pain on the anterior knee typically resulting from overuse or misalignment of the patella on the femur. This misalignment causes overloading on the lateral structures of knee, which can lead to accelerated wear between bone surfaces of the knee.3 Dynamic valgus consists of hip medial rotation, adduction and flexion, which has b... [tags: Knee, Flexion, Extension, Muscles of the hip]
2233 words (6.4 pages)
- When assigned to study a disease, it was easy to choose because of having a family who is suffering with heart problems. Marfan syndrome hit home since my father was diagnosed, as well as, my first cousin. The causes of this disease are not specific with the exception of it being a genetic disease. However, the symptoms are quite easy to detect when the physician is made aware of family history. Since the causes are unclear, it is important that families know about these symptoms. This disease has no cure (Ho 1978), but when the symptoms are known to a person carrying the disease, a lifestyle can be developed which can allow the carrier to lead a fairly normal life.... [tags: health, genetic disease]
1384 words (4 pages)
- Human Down Syndrome As diseases evolves so does humans, in order to eradicate the threats of the tiny world. Dangers such as viruses and bacteria, but humans are one-step forward and develop vaccines and antibiotics. Currently, one disease humans cannot stop is Down syndrome. Down syndrome causes a person to have physical and learning disabilities. Both of these disabilities can be minor to severe. According to World of Health (2000), “physical problems include a small skull, a narrowed or flattened nose bridge, poor muscle tone, and multiple folds beneath the eyes” (para.... [tags: disabilities, chromosome 21]
1114 words (3.2 pages)
- Individuals who have depression, anxiety, manic depressive disorder, dementia, Parkinson 's disease, restless legs syndrome, and post-traumatic sleep disorder are all associated and at risk with getting Insomnia Disorder (Ehrlich, 2016). One who is on their computer near bedtime or sleeps with a partner who snores to loud can also cause insomnia (Ehrlich, 2016). Differential Diagnosis Short sleepers, sleep deprivation, restless leg syndrome, breathing related sleep disorders and narcolepsy are all contrast to Insomnia Disorder.... [tags: Sleep, Insomnia, Sleep disorder, Sleep deprivation]
1355 words (3.9 pages)
- According to the Medscape, chronic pain syndrome (CPS) is a common problem that presents a major challenge to health-care providers because of its complex natural history, unclear etiology, and poor response to therapy. CPS is a poorly defined condition. Most authors consider ongoing pain lasting longer than 6 months as diagnostic, and others have used 3 months as the minimum criterion. In chronic pain, the duration parameter is used arbitrarily. Some authors suggest that any pain that persists longer than the reasonably expected healing time for the involved tissues should be considered chronic pain.... [tags: Major depressive disorder, Suicide]
965 words (2.8 pages)
- disease. The earliest indicators of this can be dactylitits, or painful swelling of the hands and feet, fatigue or fussiness due to anemia, yellowing or the skin, also known as jaundice, and the yellowing of the whites of eyes, referred to as icteris (the yellowing is a sign of a large number of red blood cells hemolyzing). Acute chest syndrome is a very serious condition caused by sickling in the blood vessels of one’s lungs. The result of this damages lung tissue and causes poor oxygen exchange.... [tags: Red blood cell, Blood, Heart, Sickle-cell disease]
1235 words (3.5 pages)