PPT-Genetic disorders (PKU, and Cystic Fibrosis)

Supervised by Dr Nuhad Alduri Prepared by zahraa basim mohammed Phenylketonuria Phenylketonuria an inborn error of metabolism inherited as an autosomal recessive trait the PAH gene is located on chromosome 12q24 is caused by a deficiency or absence of the enzyme needed to metabolize the essential amino acid phenylalanine Classic PKU is at one end of a spectrum of conditions known as . Treatment . of Cystic Fibrosis. Rebekah F. Brown, MD. Center Director, Cystic Fibrosis Center at Vanderbilt. Objectives. At . the end of this presentation, participants will have an understanding of the pathophysiology of cystic fibrosis and targets of treatment for children and adults with cystic fibrosis.. Vaughan Somerville. Who am I. Heel Prick. Sweat Test. Heel Prick. Diagnosis. Effects 1 in 2500 people. ~ 450 people in NZ. Average life expectancy 37-40. 97% of males are in fertile. What is Cystic Fibrosis (CF). By: Adrienne Gebele. What is PKU?. 1. Inherited disorder. Occurrence varied due to ethnicity and geography. About 1 and 10,000 to 15,000 infants are born with in the U.S.. People born with PKU have an inactive liver enzyme which causes a dangerous build up of phenylalanine in the blood. Module 1: Cystic Fibrosis Overview. Learning Objectives. Describe the pathophysiology of cystic fibrosis, and specifically how the disease process alters nutrient digestion, absorption, and metabolism.. Broadening Your Health Care Team . Meredith Wiltsie, MN, ANP, FNP . Nurse Practitioner, adult Cystic Fibrosis program. Cystic Fibrosis Education Day. March 11. th. , 2017. No disclosures. If you are a CF Center patient, why do you need a Primary Care Physician? . What is PKU?. PKU is an inherited disorder that is an error of metabolism that increases the levels of a substance in the blood called phenylalanine hydroxylase.. Phenylalanine is an important amino acid and the body needs it for health; you get it from food. It is a building block for proteins in the body.. Dr. Diana Naranjo, . Phd. Clinical Assistant Professor of Psychiatry & Behavioral Health sciences. Why I’m here. Dramatic improvements in prognosis, treatments and life expectancy in CF; . However, arduous . B. oyle. Other names for cystic fibrosis are CF, Pancreas fibrocystic disease, and Pancreatic cystic fibrosis. The name was chosen because.  . cystic . means biliary . area . and fibrosis refers to the scarring of the tissue. So Cystic Fibrosis means tissue scarring of the biliary . . Single gene . Mendelian. disorder. Gene codes for the Cystic Fibrosis . Transmembrane. Conductance Regulator protein (CFTR). Daniel R. . Taub. and Joshua Page. Cystic Fibrosis: Exploration of evolutionary explanations for the high frequency of a common genetic disorder.. Table of Contents Presentation 5 Presentation Resources 6-7 Teacher/Faculty Curriculum 8-9 Teacher/Faculty Resources 10 K-2nd Grade Activities/Materials 11 3rd-5th Grade A Nursing College. Cystic Fibrosis. Inherited—. autosomal. recessive. Both parents must be carriers. Each child has a 1 in 4 chance of being affected. Affects primarily white children. Father Mother. ObjectivesUnderstand the genetic abnormality causing cystic fibrosis (CF) and the newborn screen processRecognize the multiple organ systems affected by CFIdentify common treatments /medications and m LUNG CYSTIC FIBROSIScontinuedHow Serious Is Cystic Fibrosis?CF is a life-threatening condition. There are about 30,000 people with cystic brosis in the United States and approximately 70,000 peop Dr. JP Jarczyk, MD. February 11, 2023. Disclosures. I have no conflicts of interest to disclose. Objectives. Understand basic genetics of CF. Understand basic pathophysiology of CF. Understand treatments for pediatric patients with CF.