Polycystic kidney disease (PKD) is a genetic disorder categorized by the growth of numerous cysts in the kidneys. Said cysts are filled with fluid and slowly replace most of the mass of the kidneys. This inevitably reduces kidney function and eventually leads to kidney failure. When PKD causes the kidneys to fail, which typically happens after many years, the patient requires dialysis or a kidney transplant. Approximately one-half of the people with the major form of PKD advance to kidney failure, also known as end-stage renal disease. Approximately 500,000 people in the US have PKD and is the fourth leading cause of kidney failure. PKD can cause cysts to grow in the liver and in other organs; i.e. the heart and blood vessels in the brain. These complications assist doctors in distinguishing PKD from mostly harmless cysts that can form on kidneys later in life. …show more content…
Due to this, autosomal dominant PKD is often referred to as “Adult Polycystic Kidney Disease.” In most cases, the person’s physical condition appears to be normal and the disease goes unnoticed. Even physical checkups, urine, and blood tests possibly won’t lead to a diagnosis. Leaving the disease to slowly progress undetected. Nonetheless, some cases have cysts that appear earlier, even in the first couple years of life. Some symptoms of autosomal dominant PKD are; UTIs, blood in the urine, abnormal heart valves, high blood pressure, and kidney stones. In order to diagnose autosomal dominant PKD a doctor will typically observe three or more cysts on the kidneys using an ultrasound image. The diagnosis can be strengthened the presence of cysts in other organs and a family history of the disease. Due to its slow nature diagnosis with imaging technology isn’t possible until the cysts have formed on the kidneys. In the future, DNA tests will be able to confirm a diagnosis of autosomal dominant PKD before any cysts
Family History also is positive for rheumatoid arthritis (Inflammatory changes in the joints causing pain), so we had serology (scientific study of blood or other bodily fluids) run for the erythrocyte sedimentation rate (the rate at which red blood cells settle in one hour used to detect inflammation associated with conditions such as infections, cancers, and autoimmune diseases), and looking for presence of Anti-Nuclear-Antibodies (found in patients whose immune system may be predisposed to cause inflammation against their own body
She primarily treats the geriatric population. An acute exacerbation of chronic kidney disease can also be referred to as acute on chronic kidney disease. This is typically an acute kidney injury (AKI) that occurs in a patient with normal kidney function or preexisting kidney disease. “AKI is
It can also happen to due kidney diseases. They are three kinds of Metabolic alkalosis, 1) Hypocloermic alkalosis is caused by an extreme lack or loss of chloride, from prolonged vomiting. 2) Hypokelemic alkalosis, which is caused by the kidneys response to an extreme loss or lack of potassium. This can happen from taking diuretics.
Alkaptonuria Ashley Thompson Grand Canyon University Alkaptonuria Alkaptonuria (AKU), which is commonly known as the black urine disease, is a very rare autosomal recessive disorder that occurs due to the mutation in the Homogentisate 1,2 Dioxygenase Gene (HGD). The HGD gene is what provides interactions for the making of the enzyme called homogentisic acid oxidase (HGAO). HGAO is the enzyme that helps by breaking down the amino acids tyrosine and phenylalanine. Tyrosine is known as a non-essential amino acid with a polar side group and it has a special role to the phenol functionality. Tyrosine appears in the proteins that are a part of signal transduction processes.
For example, dialysis, the kidney treatment that the author’s mother was receiving, could seriously weaken a patient’s organ. Although this is a common treatment that serves to perform the function of a failing kidney, it could results in a variety of side effects
Ha-ha, okay all jokes aside, mark Watney's circumstances are not like those with end stage renal failure and vice versa, but he was faced with a life threatening situation. Over and over he was faced with a trial that would seem insurmountable, but Mark Watney mounts them with humor! The Norwegian University of science and technology confirms this through their study of the 41, end stage renal failure patients that Mark Watney couldn’t have perceived his trials in any preferable way. His optimistic humor was and is the optimal way to face life-threatening
Lets get right to it. Autosomal Dominant Polycystic Kidney Disease is when small liquid type called cysts is developing in your kidneys. This disease isn’t usually cause by anything but it is inherited meaning it is passed down
Polycystic Ovarian Syndrome is a form also known by the name of Stein-Leventhal Syndrome. This condition is a hormonal difficulty that affects women to have a mixture of symptoms. Most women with this condition have several tiny cysts in their ovaries.’’ Cheang states ,”Cysts on the ovaries may happen for all type of basis other than having Polycystic Ovarian Syndrome, it is the feature of symptoms, rather than the occurrence of the cysts themselves. ’’2
It has been diagnosed that kidney stones are very common in individuals that have a diet that is high in oxalates . Another known cause for formation of kidney stones is high alkalinity or high acidity of urine. However, genetics also can play a role in kidney stones. A person who has had kidney stones often gets them again in the future. Actually, you have a 50% chance of recurrence within 8 years of the first
With age, these disks dry out and shrink, which often worsens kyphosis. • Scheuermann's disease. Also called Scheuermann's kyphosis, this disease typically begins during the growth spurt that occurs before puberty. Boys are affected more often than are girls. The rounding of the back may worsen as the child finishes
In this case Matthew and Michael Clark obviously carried the gene but managed to live healthy childhood and young adult lives, but develop Leukodystrophy later in their adult life. Adrenoleukodystrophy is an X-linked peroxisomal disorder which causes problems in the person's peroxisomes, which are tiny cellular structures involved in the breakdown of large molecules of fats into smaller ones that their body can use. The disease is caused by a mutation of the ABCD1 gene that is carried on the X chromosome. This gene produces the adrenal protein. Persons with ALD have peroxisomes that are unable to break down a type of fat called, ‘Very Long Chain Fatty Acid,’ or VLCFA.
Personal Statement Since I was a child, I have shown great interest in exploring my surroundings. I was extremely eager to grasp every single piece of information into my growing brain. My family has always encouraged me to utilize my abilities to the fullest extent. As I grew, this passion became even bigger, and at those moments I came to an understanding that science will be my enjoyable hobby and my first and only career choice. When I was in my first year of medical school, I had to watch my cousin and best friend suffering because of Kidney Failure.
Despite the potential kidney damage, doctors can actually reverse
A Form of Metabolic Syndrome Associated with Mutations in DYRK1B Jeffrey Ma Introduction Metabolic Syndrome Leading cause of death worldwide Symptoms increase risk of heart disease, stroke, and diabetes Inheritable risk factors that is known as metabolic syndrome early-onset coronary artery disease central obesity hypertension diabetes http://www.tolwellness.com/wp-content/uploads/2014/03/metabolic_syndrome.jpg Single gene mutations produce these risk factors of this syndrome (Mani, Rhadakrishnan, Wang et al. 2007) Genetic analysis Successful in identifying causative mutations Limited in mapping susceptibility of genes for clusters of cardiovascular risk traits Next generation sequencing Identification of rare variants in outlier populations
It also stops your intestinal activity completely. 5. Fainting When it occurs that your kidney doesn 't get enough potassium, it may not be able to work properly. The result is frequent urination, which tends to lower the pressure of your blood. If your blood pressure turns too low, you may die 6.