Polycystic Kidney Disease Jeffrey Zhao. Two Types  Genetic Disorder  Occurs in humans a few mammals  Around 12.5 million people worldwide  Autosomal.

Slides:



Advertisements
Similar presentations
Human Genetic Disorders
Advertisements

Honors Biology Genetic Disorders.
Galactosemia By Nate and Dj. What is Galactosemia? Galactose in the blood Galactose in the blood This is found mainly in dairy products This is found.
Renal Diseases Renal cysts and Tumors.
Kidney Dysplasia.
SICKLE CELL DISEASE Sickle cell anemia.
Birth Defects.
* How did exercise affect your heart rate? Why do you think this happened? * How does your heart rate affect the rate at which red blood cells travel.
Genetic Diseases.
Andrew Novoa and Thea De Guzman 2/1/10 Per. 3
Sara Kline Period 6 3/25/10. What is Alport Syndrome?  Chromosomal disorder that damages tiny blood vessels in the kidneys - - these tiny blood vessels.
NOTES 24 – Genetic Disorders and Hereditary Diseases
Renal Diseases. Kidney Failure Kidney failure is also called renal failure. With kidney failure, the kidneys cannot get rid of the body’s extra fluid.
Case Report # [] Submitted by:Kandra Vogt, MSIV Faculty reviewer:Sandra A. A. Oldham, M.D. Date accepted:31 August 2007 Radiological Category:Principal.
+ Polycystic Kidney Disease Anne Campbell
 Systems and Its Functions: System Parts and Functions Kidneys- the main function of the kidneys is to separate urea, mineral salts, and other toxins.
By: Ruth Maureen Riggie
Human Heredity and Genetic Disorders
CHRONIC KIDNEY FAILURE
Cancer Card Game Answers etc.
- When DNA Mutates. MUTATION A heritable change in the nucleotide sequence of an organism’s DNA.
All About Diabetes By: Joanna Gomola For ages 18+
Facts and Information on: By: Xavier Robles-Giron George Huntington.
Cancer Genetics Genetic Disorder. What are cancer genetics? Many cancer-predisposing traits are inherited in an autosomal dominant fashion, that is, the.
Cystic Diseases of Kidneys
By; Aarynn M, Lauren Br, and Becky D THE URINARY SYSTEM.
Medical-Surgical Nursing: An Integrated Approach, 2E Chapter 29 NURSING CARE OF THE CLIENT: URINARY SYSTEM.
Adult Polycystic Kidney Disease.  Autosomal dominant  1-2 per 1000  Cysts present at birth, progressively enlarge to compress renal parenchyma  Occurs.
Pedigree definition  Pedigree: a family history that shows how a trait is inherited over several generations  Pedigrees are usually used when parents.
Chapter 4, Section 2 Human Genetic Disorders
Chance Vongchanh 7th hour
Genetic Disorders.
34 YO WHITE FEMALE WITH ABDOMINAL PAIN
Inherited Diseases Genetic diseases passed from parents to child before birth.
Cystic Fibrosis By: Olivia DeCoste.
The Urinary System. As your body performs the chemical activities that keeps you alive, wastes material such as carbon dioxide and nitrogen are produced.
Human Genetics: Patterns of Inheritance for Human Traits.
Important Genetic Disorders Bio. Definitions ► Autosomes- any chromosome that is not a sex chromosome. Not the “X” or “Y” ► Sex-linked- genes located.
Human Genetic Disorders
Genetic Disorders, Part Deux
CYSTIC DISEASE OF KIDNEY Dr S Chakradhar 1. Classification of renal cyst Adult polycystic disease (Autosomal dominant disease) Adult polycystic disease.
What is sickle cell disease? Sickle cell disease is a disorder that affects.
PreClinOmics, Inc. Re-Purposing Drugs for the Treatment of Polycystic Kidney Disease: Partnership with the Polycystic Kidney Disease Foundation PKD Models:
Human Genetics: Patterns of Inheritance for Human Traits.
By: Juan Carlos Bujanda. Symptoms A lot of life-threatening infections that are not easily treated and do not respond to medications, including the following:
By: AHMAD SALLEHUDDIN BIN MUKHTARUDDIN D11A001 & ALVIN LEE JIN WEN D11A003.
The Urinary System. As your body performs the chemical activities that keeps you alive, wastes material such as carbon dioxide and nitrogen are produced.
بسم الله الرحمن الرحيم. POLYCYSTIC KIDNEY DISEASE Lecture by: Dr. Zaidan Jayed Zaidan.
Charcot – Marie – Tooth disease
Sickle Cell Andrew Novoa and Thea De Guzman 2/1/10 Per. 3.
Zookeeper genetic disorder By nick proffitt. Multiple sclerosis Multiple sclerosis also known as MS is a long lasting disease that can affect the brain.
Human Genetic Disorders Every cell in the human body has 46 chromosomes except for gametes, egg sperm cells, which contain 23 or the haploid number. Human.
Sickle Cell Anemia Danny Gardner and Merline Maxi 1/28/10 Period 9/10.
Honors Biology- Chapter 14. The Human Genome Project  Completed in 2003  13 year project  discovered all the estimated 20,000-25,000 human genes 
KAITLIN BANNON SICKLE CELL DISEASE. WHAT IS SICKLE CELL DISEASE? WHERE DID IT COME FROM?
Problems of the Reproductive Systems. Male Reproductive Problems 1. Inguinal Hernia- part of intestine pushes into the abdominal wall near the top of.
CANCER.
Polycystic Kidney Disease
Niemann Pick Type C Disease By: Grace Messina 11/28/15 Period 4.
Renal practical I Dr Shaesta Naseem.
Adult polycystic kidney disease
Excretory System.
Down Syndrome By Todd Martorano.
5.3- Following Patterns of Inheritance in Humans
Human Genetic Disorders Part 3
Name of the disorder.
Genetics Project Sickle Cell Disease.
Cystic Fibrosis Bryan Chua.
Human Genetic Disorders, Part 2
Presentation transcript:

Polycystic Kidney Disease Jeffrey Zhao

Two Types  Genetic Disorder  Occurs in humans a few mammals  Around 12.5 million people worldwide  Autosomal dominant polycystic kidneys  Common  Autosomal recessive polycystic kidneys  Less common  The two types are distinguished by their patterns of inheritance  No ethnicity preference

What Happens?  Cysts grow on Kidneys (Cysts – sacs made of tissue that contain air, fluids, or semi-solid materials)  Usually affects both kidneys at the same time  But in some cases, one kidney is affected first, and the other in adulthood  Cysts are numerous and large  Causes kidneys to enlarge  Kidney no longer functions  Damages the Kidneys, liver, pancreas, and in some sever cases, the heart and brain  Life threatening

Other symptoms  Urinal tract infections  Blood in urine  high blood pressure  cerebral aneurysms  pancreatic cysts, splenic cysts, ovarian cysts, prostatic cysts  cardiac valve malfunctions

Possible Treatments  Currently no distinct and effective cure  Except kidney transplant  Research shows that the cAMP molecule is directly related to the enlargement of kidney cysts  The hormone vasopressin increases cAMP level in blood  A certain chemical blocks vasopressin repressors (inhibitors)  reduces levels in blood  experiment shows that cysts reduce in size and retain some functions  Studies show that large consumption of water also lowers vasopressin levels (research conducted in mice)

Autosomal Dominant Polycystic Kidney  Noticeable around age  Three genetic mutations:  PKD-1 gene (Chromosome 16) (85% of cases)  PKD-2 gene (Chromosome 4) (15% of cases)  PKD-3 gene (Correlation not yet proven)  Cysts begin to form on the nephron then spreads and expands  Cells that are supposed to turn into renal tubule cells for the correct functioning of the kidney turn into cyst cells

Autosomal Recessive Polycystic Kidney  Noticeable first few weeks after birth  Mutation in PKHD 1 Gene  Kidney retains shape but are larger with dilated urinal tracts  50% of affected die, and 80% of the survivors have impaired urinal functions, hypertension, and esophageal varices  Risk factors: Black race, male  Future therapies may target aberrant cell signaling mechanisms, as in ADPKD  Treatment: Hypertension control

Sources   e e   dominant dominant