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Fund of Disease ch5
Heredity & Disease Chapter 5
| Question | Answer |
|---|---|
| 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:
pattiluv
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