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)
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General description of PKD: PKD is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. (ghr.nlm.nih.gov/condition/polycystic-kidney-disease) Genetic characteristics of PKD: The two major forms of PKD,(ADPKD-autosomal dominant pkd/type 1)(ARPKD- autosomal recessive pkd), are distinguished by the usual age of onset and the pattern in which it is passed through families.
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Population affected and money spent on treatment: 500,00 individuals, or 1 in 800 live births are affected by PKD.
(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)
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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)
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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)
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4 Treatment for PKD is symptomatic, meaning that depending on the patient’s symptoms, their treatment is tailored specifically to target their needs. Controlled blood pressure w/ ACE inhibitors, because the cysts in the kidney causes the activation of the renin-angiotensin system, which causes to increase to increase blood pressure. (ex: lisinopril, enalapril) (CMDT) Low protein diet. Since hypertension is a common symptom. (CMDT) Antibiotics, to treat urinary tract infections(CMDT) For managing hematuria, bedrest & hydration is recommended.(CMDT) For general pain management, bedrest and pain relievers, avoiding motrin is recommended.(CMDT) Cyst decompression is used to deal with chronic pain. (CMDT) Nephrectomy, surgical removal of one or both kidneys, is used as a last resort for pain control in patients w/ inaccessible cysts in the renal medullae.(MEDSCAPE) Patients who progress to end-stage renal disease may need: Hemodialysis, peritoneal dialysis, and kidney transplantation.
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
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.
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.
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.
CKD- This patient has a history of Stage 5 renal failure, which requires him to receive regular dialysis. At this stage, oliguria occurs, resulting in a decreased renal excretion of potassium and a decrease of glomerular filtrate. Since this patient has not received regular dialysis (last performed x 5 days ago), metabolic acidosis may have occurred causing an increased shift in extracellular potassium.
Dr. Wilmut’s cloning of Dolly the sheep from an adult ewe has been sharply challenged by Dr. Norton D. Zinder, a microbiologist at Rockefeller University. Zinder believes that it is possible, however there is simply not enough evidence to prove it. It was noted that the cloning of the sheep was only successful a mere 1 out of 400 times, which, in science, is not a successful result according to Zinder. Dr. Wilmut also failed to mention that the sheep from which Dolly was cloned had died many years prior to the cloning which is a huge red flag in the credibility of the success of this experiment. I definitely believe that this cloning experiment was unsuccessful. I am very interested in cloning, and find it very awesome that you can take the genes of one mammal and create an exact replica.
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 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
A genetic mutation is a permanent change in the sequence of the DNA that makes up a gene. A mutation of these sorts can be caused by either inheritance from the parent or caused sometime during the life of someone. The mutation that has been inherited is called a germline mutation. Germline mutations affect virtually the entire body, and they seem to be present in every cell. A somatic mutation, or one that is caused in the DNA of a single cell sometime during the life, can be caused by an environmental factor or a wrong bonding in the DNA molecule. These cannot be passed down to the next generation of children because they occur in a specific cell as opposed to in a reproductive cell. Some mutations occur in the embryo as it is growing. These may occur during cell division, and some of the cells may or may not inherit this mutation. Some mutations are extremely rare, and others are incredibly common. Those that occur in more than one percent across a population are considered polymorphisms. Polymorphisms are considered normal variations in DNA, and they are known to cause simple changes such as variations in blood types and hair color. Although these are not typically fatal, they can influence the creation of some disorders (Lister Hill National Center for Biomedical Communications, U.S. National Library of Medicine, National Institutes of Health, Department of Health and Human Services, USA.gov, 2013).
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.
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.