(精选)【医学课件大全】苯丙酮尿症 (44p)教学课件.pptVIP

Case report;How might one go about determining whether an infant has a metabolic disease?; Many of the metabolic defects can present clinically like : a. sepsis. b. formula intolerance or gastroesophageal reflux. c. necrotizing enterocolitis. d. neonatal hepatitis with liver failure. ;;第八章第三节;苯丙酮尿症;苯丙酮尿症;苯丙酮尿症;Phenylketonuria (PKU), one of the best understood genetic disorders and the first to be screened for in developed countries, results from phenylalanine hydroxylase (PAH) deficiency. The enzyme deficiency leads to build-up of phenylalanine that is toxic in high levels to brain growth and nerve myelination. This causes mental retardation, abnormal behaviors and skin rashes. In addition, the PAH enzyme is necessary to convert phenylalanine to tyrosine which is required for melanin synthesis. With a defective enzyme, the individual is unable to produce proper levels of tyrosine which results in poor pigmentation of skin and hair. ;苯丙酮尿症;苯丙酮尿症 ;;;;;苯丙酮尿症;The Newborn Screening Program (NSP);The NSP was designed as a key preventive public health tool to identify disorders that have a treatment that when started early, can lead to reductions in mental retardation, physical disability or death.;How are the tests done?;;;;;;;CA Panel ;CA Panel ;;苯丙酮尿症 ;A1型题 1．21三体综合征核型分析最常见的是 A．标准型 B．D/G易位型 C．G/G易位型 D．嵌合体型 E．白血病 2．苯丙酮酸尿症最突出的临床特点是 A．肌张力减低 B．头发黄褐色 C．皮肤白皙 D．智力低下 E．伴有惊厥;3．苯丙酮尿症可有下列临床特点,但应除外 A．生后4个月左右,才发现智力低下 B．可有抽搐发作或脑性瘫痪 C．头发黄褐色,尿呈霉臭气味 D．皮肤白晰,易出现湿疹样皮疹 E．特殊面容,四肢粗短;A2型题 1．九个月男孩,反复抽搐4次,智力差,表情呆滞。皮肤白嫩,头发黄色,尿有霉臭味,为明确诊断,应选择以下哪项检查? A．血T3.T4,TSH B．染色体检查 C．尿三氯化铁试验 D．脑电图 E．腕部摄片 2．女孩,3个月,以哭闹后青紫就诊,查:精神呆板,眼距宽,双眼外侧上斜,四肢短,肌张力低,心尖部Ⅱ—Ⅲ级收缩期杂音,胸透心脏无扩大,腹软,肝脾不大,入院初诊为 A．先天性心脏病 B．21-三体综合征 C．先天性甲状腺功能低下症 D．苯丙酮尿症 E．??体发育异常;3．2岁,男孩,生后4个月逐渐出现智力低下,毛发颜色变浅,皮肤白晰,抽风三次来诊。本病可能的病因是: A．酪氨酸羟化酶缺乏 B．二氨喋啶还原酶缺乏 C．苯丙氨酸羟化酶缺乏 D．过氧化酶缺乏 E．碘化酶缺乏 4．5岁女孩,门诊诊断为21三体综合征,其核型分析为46,XX,t(14q21q),最可能属于下列哪种染色体畸变所致? A．染色体重叠 B．染色体缺失 C．染色体倒位 D．染色体重复 E．染色体易位;5．患儿男性，4个月,抽搐一次来诊,表情呆滞,皮肤白晰,头发淡黄,智力低下,首先