Introduction Info
Difference between a disease and an inherited genetic disorder: A genetic disorder is a disease that is caused by an abnormality in an individual’s DNA. Abnormalities can be as small as single-base mutation in just one gene, or they can involve the addition or subtraction of entire chromosomes. (http://learn.genetics.utah.edu/content/disorders/)
An inherited genetic disorder is a medical condition or trait that is related to our genes and can be passed down from parent to child. (http://patients.ambrygen.com/general-genetics/know-the-basics/genetics-101/inherited-vs-genetic)
A disease is an illness or sickness characterized by specific signs and symptoms. (https://www.medicinenet.com/script/main/art.asp?articlekey=3011)
…show more content…
(ghr.nlm.nih.gov/condition/polycystic-kidney-disease) …show more content…
(Current Medical Diagnosis). About $2 billion, annually via Medicare and Medicaid alone, is spent on treating PKD. (http://www.foxnews.com/opinion/2015/12/21/why-doubling-nih-budget-would-benefit-all-us.html)
Paragraph 2
Signs and symptoms: ADPKD- blood in urine(haematuria), CKD(chronic kidney disease), high blood pressure, abdominal/lower back pain, kidney stones, recurrent urinary tract infections(UTIs). (https://bumppkd.com/en/what-is-pkd/adpkd)
ARPKD- severe breathing difficulties, high blood pressure, CKD, excessive urination and thirst, serious internal bleeding, damage to the liver known as Congenital Hepatic Fibrosis(CHF). (https://bumppkd.com/en/what-is-pkd/arpkd) Pain in the abdomen, flank, or back area, since the cysts grow, making the kidneys enlarge. (https://www.pkdinfo.com/downloads/PKD-complete-guide.pdf) Heart valve abnormalities.(genetics home reference)
Paragraph 3
CBC count from cysts, urinalysis, urine culture, uric acid determination, CT scans,MRI, and ultrasound, which is used to confirm the diagnosis of disorder. (CMDT)
Paragraph
She had a two week history of feeling generally unwell, complaining of tiredness and lethargy. She had no other significant symptoms. Her past history includes well controlled asthma and anxiety. She was a smoker of 20 cigarettes per day. She was taking amitriptyline, Symbicort (budesonide and formoterol inhaler). She had no significant family history of medical illness and had no clinical findings on examination. Blood tests showed corrected calcium of 4.22mmol/L (NR 2.20 -2.60) with suppressed paired PTH of 1.45pmol/L (NR1.60- 6.9). Her renal function was initially impaired, but normalized with rehydration. Her liver function tests, full blood count, vitamin D, myeloma screen and serum ACE levels were all within normal limits. Ultra sound scan (USS) of kidneys, USS of parathyroid and computerized tomography (CT) of thorax, abdomen and pelvis were all reported as normal with no cause found for her
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
In the essay "Ethics in the New Genetics" by the Dalai Lama, the author states that before biogenetics may continue human beings must hold with them a "moral compass" that will protect all human beings from their fundamental characteristics to be taken away; the Dalai Lama hopes this will create more ethical decisions in the future. Similarly, in "Human Dignity" by Francis Fukuyama, the author examines the rise of human genetics and how it is going down a path that does not consider human essence, or in his words Factor X, as a legitimate attribute to all human beings as these biogenetics continue. The rise of biogenetics will create an unfair advantage to many, including farmers who will find that they must depend entirely on biotech companies
· genetics: occasionally the disease has a tendency to run in certain families (inherited or genetic predisposition), but this is not common.
Familial dysautonomia affects the development of sensory neurons. It affects two important nervous systems: the autonomic nervous system, which controls a persons involuntary actions, and the sensory nervous system, which controls a persons senses. It starts at birth and shortens a victim’s life span drastically. (Genetics Home Reference)
J.P., a 58 year old female, presents to the Emergency Room on March 18th. She has a past medical history of cervical cancer, atheroembolism of the left lower extremity, fistula of the vagina, peripheral vascular disease, neuropathy, glaucoma, GERD, depression, hypertension, chronic kidney disease, and sickle cell anemia. She complains of right lower extremity pain accompanied by fatigue, a decreased appetite, increased work of breathing, burning urination, and decreased urine output for three days. Upon admission, a complete physical assessment was performed along with a blood and metabolic panel. The assessment revealed many positive and negative findings.
Huntington's disease is an inherited neurodegenerative disorder. It is passed on to children from one or both parents (though two parents with Huntington's is extraordinarily rare) in an autosomal dominant manner. This is different from autosomal recessive disorder, which requires two altered genes (one from each parent) to inherit the disorder.
Huntington’s disease is named after George Huntington. This disease genetically is an inherited disorder that damages the mind and nervous system. This may affect actions of the body for example like movement, the ability to reason, awareness, and thinking and judgment. It can also affect their behavior. The word genetic is that the disorder is delivered on by each generation of offspring by special codes called genes(Patient.Co.Uk, 2011). Genes are relocated from a parent to offspring and is held to decide some characteristics of the children (Patient.Co.Uk, 2011).
When each parent produces, only one of their two PKD1 genes goes into each cell. The child will inherit one copy of the PKD gene from the father and one from the mother. ADPKD can also occur as the result of a spontaneous mutation. If neither parent had the disease, but a PKD gene was somehow mutated, you can still have the disease. When each parent produces, only one of their two PKD genes goes into each cell.”“There is currently no cure for polycystic kidney disease. In the early stages, a patient can be treated for high blood pressure, pain, and any other secondary symptoms. If the disease progresses to the point of kidney failure dialysis and kidney transplantation provide replacement therapy, but does not cure PKD.” “People in their adulthood are the ones usually affected. Cysts in the kidney are often present from birth or childhood. ARPKD is much rarer and is often lethal early in life. It is among the most common of all inherited diseases of humans.”“The disease gets worse slowly. Eventually it leads to end-stage kidney
Polycystic Kidney Disease, often referred to as PKD, is a genetic disorder passed down through families and involving bilateral renal cysts, usually without abnormality. The kidneys are located in the upper part of the abdomen, toward the back, and about the size of one’s fist. They filter waste and unneeded fluid from the blood and form urine. When cysts form in or on the kidneys they fill with fluid and become enlarged. The enlargement of the kidneys will result in decreased function and eventually kidney failure. There are two major forms of PKD, autosomal dominant (ADPKD) and autosomal recessive (ARPKD). Both of these can involve the presence of renal cysts at any time during an affected person’s life, from prenatal stages into adulthood.
In honor of Turner Syndrome Awareness Month that just passed this February, we are dedicating this post to those with Turner Syndrome, a condition that rarely discussed.
Cystoscopy. Use to remove a small sample of tissue (biopsy) for analysis in the lab. This test most likely won’t be needed if this is the first time patient had signs or symptoms of cystitis.
ARPKD: is the most common genetic cystic renal disease occurring in infancy and childhood. However, it is nonetheless a rare disorder and is much less common than ADPKD.
When every child is born they are born with two sets of chromosomes. 23 chromosomes are from the mother and 23 chromosomes from the father, creating a total of 46 chromosomes for the child. But for some children born today, they are born with chromosome abnormalities. Chromosome abnormalities involve sex chromosomes and are gender specific (O’Neil). With today’s technology and past studies, we are able to determine chromosome abnormalities and the syndromes that are formed by these abnormalities.
Most diseases have genetic disorders. A diseases springs from genetics that are passed along from the parents. So called genetic diseases can be classified in 3 ways single gene defects, chromosomal disorders and multi factorial. 1 in 200 births have single gene defects. There are over 6000 different known single gene disorders. These kind of disorders are characterized by the way they are carried thru a family.