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Fund of Disease ch5

Heredity & Disease Chapter 5

Hereditary diseases are also called genetic (familial) diseases
Hereditary diseases are caused by a defective gene(s)
genes represent the blueprint of how the body is constructed
The blueprint is also expressed in an abbreviation called DNA
Genes are found in groups called chromosomes
Normally, each human has 46 chromosomes
Each parent donates twenty three (23) chromosomes to each child
Heredity(genetic) diseases include: 1.Polydactyl-extra fingers/toes 2.Achondroplasia-dwarfism 3.PKU(Phenyl Keton Uria)-dietary enzyme deficiency 4.Galactosemia-cause liver,eye,kidney & brain damage 5.SCA(Sickle Cell Anemia)-sickle shape RBC 6.Albinism-absence of melanin
Heredity(genetic) disease include continued 7.Achromatopsia-color blindness 8.Hemophilia-absense of clotting factor(s) 9.CF(Cystic Fibrosis) 10.DS(Down Syndrome) trisomy(3) of chromosome 21
Enzymes are chemical catalysts
Catalysts refer to anything that causes reactions to occur
Neonates are routinely tested for PKU in the hospital because left untreated this condition causes MR(mental retardation)
Tx for PKU includes a modified diet of no protein /can not have (Milk, meat, eggs, nuts, legumes(beans) & aspartane)
Tx for galactosemia includes: diet modifacation(NO lactose-dairy)
SCA(SickleCellAnemia) occurs when erythrocytes (RBCs) are produced with a sickle shape that inhibits respiration(exchange of gases/CO2 & O2) and causes agglutination
agglutination refers to the clumping together of the deformed erythrocytes(RBCs)
Agglutination can cause SCC(Sickle Cell Crisis)
signs & symptoms of SCC (Sickle Cell Crisis) include: vascular occlusion(infarction), tissue ischemia (starving of O2), necrosis(death), thoracodynia(chest pain), dyspnea(difficulty breathing), hemolytic anemia(red blood cell destruction), severe pain & organ failure.
SCA(Sickle Cell Anemia) primarily affects African Americans
Dx of SCA(sickle cell anemia) is confirmed with a microscopic examination of the erythrocytes (RBCs)
Tx for SCA includes a. blood transfusions b. Analgesics(pain relievers) c. O2(Oxygen) therapy
Hemophilia is a coagulopathy (disease condition of clotting) that occurs with an absence of a clotting factor(s)
CF(Cystic Fibrosis) is characterized by pulmonary & pancreatic dysfunction
The incidence of DS(Down Syndrome) is higher among children born to mothers over the age of 35
Characteristics of DS(down syndrome) include a.Mild to profound Mental Retardation(MR) b.Eyes appear slanted and wide set c.Protruding tongue d.Short flat nose e.Short statue f.very affectionate g.A straight crease extends across the palms of the hands
Charactristics of DS continued h.the little fingers are shorter than normal i.shortened life span due to higher incidence of heart defects, respiratory infections & leukemia
The Dx(diagnosis) of genetic diseases can be obtained by performing an Amniocentesis or CVS(Chorionic Villus Sampling)
congenital defect(s) are acquired during gestation(pregnancy) and not through heredity
Common causes of congenital defect(s) include 1.Hypoxia(deficient O2) 2.Maternal infection(mom gets Rubella/german measles) 3.Drug use 4.Malnutrition 5.Radiation
Congenital defects include: CP(cerebral palsy) CHD(Congenital Heart Defect) SB(Spina Bifide) CL(Cleft Lip) CP(Cleft palet) EA(Esophageal Atresia/closed off) PS(Pyloric(valve into stomach)Stenosis)
Created by: Patti Belfi Reed Patti Belfi Reed