临床生化课件祥解.ppt

(2) 肾脏疾病（课下思考） 肾功能障碍→肾小管重吸收？血中必须氨基酸？尿中氨基酸？ 五、氨基酸的生物化学检验 筛选试验：薄层层析，尿呈色试验（三氯化铁、硝基氢氰酸、2，4-二硝基苯肼、硝基萘酚试验），Guthrie试验半定量测定。 定量试验：毛细管电泳，气相色谱，HPLC，离子交换液体层析，串联质谱，分子遗传学试验等用于监测治疗或证实最初的诊断。 特异性试验：判明未知氨基酸或代谢产物。 五、氨基酸的生物化学检验 （一）自动分析法 氨基酸自动分析仪： 色谱系统 检测系统 加样系统 控制系统 数据处理系统 （二）氨基酸的纸层析和薄层层析（TLC） 不需特殊设备、经济和操作简单 采集在滤纸上的标本可邮寄。 1. 纸层析的优点 灵敏度低 分辨力差 费时 2. 纸层析缺点 速度快 分辨力 灵敏度高 3. TLC优点 （二）氨基酸的纸层析和薄层层析（TLC） 纸层析和TLC又分为单向和双向两种。 单向层析一般适用于某个或某组氨基酸增高时的筛选检测，如获异常结果需进一步用双向层析分离，或其他定量方法证实。 双向层析法能分离全部氨基酸，可作为确诊的参考。 （三）氨基酸的化学法测定 1．尿液总氨基酸量测定磷酸铜试剂法 2．色氨酸测定 3．尿羟脯氨酸测定 （四）氨基酸的酶法分析 1．苯丙氨酸测定 2．酪氨酸测定 3．支链氨基酸测定 4．谷氨酰胺测定 第三节核苷酸代谢紊乱 嘌呤核苷酸代谢紊乱最多见的是高尿酸血症，并由此导致痛风。 嘧啶核苷酸代谢紊乱可引起乳清酸尿症。 3.1 Disorders of purine metabolism 3.1.1 purine(嘌呤) metabolism 尿酸 (urate)是嘌呤分解代谢的终产物 3.1.2 hyperuricaemia (高尿酸血症) Increased plasma [urate] may be due to either defective elimination or overproduction of urate． 血浆尿酸增高可能由于产生过多或排泄减少 Q: Mechanism of hyperuricaemia? A: (1) Defective elimination of urate ① Glomerular filtration rate (肾小球滤过率)↓ ② Tubular reabsorption (肾小管重吸收)↑ ③ Tubular secretion (肾小管分泌) ↓ (2) Overproduction of urate ① Synthesis of purine ↑ ② Absorption of purine ↑ ③ Nucleic acid breakdown ↑ How is it used? The uric acid test is used to learn whether the body might be breaking down cells too quickly or not getting rid of uric acid quickly enough. The test also is used to monitor levels of uric acid when a patient has had chemotherapy 化学疗法 or radiation treatments. When is it ordered? The uric acid test is ordered when a doctor suspects high levels of uric acid. Some patients with high levels of uric acid have a disease called gout, which is an disorder that affects purine 嘌呤 breakdown. Patients with gout suffer from joint pain, most often in their toes but in other joints as well. The test also is ordered as a monitoring test when a patient has undergone chemotherapy or radiation, to learn whether uric acid levels are getting dangerously high. The test may also be ordered if a patient appe