第十六章 遗传性疾病患儿的护理（The sixteenth chapter nursing care of children with genetic diseases）.docVIP

第十六章 遗传性疾病患儿的护理（The sixteenth chapter nursing care of children with genetic diseases） Some genetic diseases in newborns neonatal screening stage for some kind of disease check to determine whether it is sick. Like before treatment, reduce the severity of damage to the human body. There is a common disease screening for phenylketonuria and congenital hypothyroidism, to appear before the Portuguese like treatment of phenylketonuria, congenital hypothyroidism, phenylketonuria - low glucose dehydrogenase deficiency -6- glucose dehydrogenase deficiency. First page The charge nurse exam online counseling nurse exam online examination online counseling pediatric nursing 4. carriers of carriers is phenotypically normal individuals with pathogenic substances, will carry an abnormal gene to their offspring. The detection method of carriers has four categories, including clinical level, cell level, enzyme and protein level and gene level. The experimental method is the main method in the clinical level from clinical manifestation analysis of sb may be carriers, but generally cannot be detected accurately; cell chromosome examination method, mainly for abnormal chromosome carrier; enzyme and protein level detection method and protein quality and enzyme activity; gene level is the main method of direct detection of pathogenic genes at the molecular level. The 21 section second trisomy 21- syndrome test in this section: (1) clinical manifestations (2) nursing measures of trisomy 21- syndrome and Down syndrome, also known as Down syndrome, is the most common pediatric disease in pediatric chromosome The most common chromosomal disease, the incidence rate was 0.5 per thousand to the most common in the pediatric patient with type three chromosome chromosome, is the germ cells during meiosis, due to some 0.6 per thousand, the male was more than female. This disease is due to chromosome 21 was three shape factors for the occurrence of separation caused by the body. The memory cells in