1) PANCREATITIS/genet
胰腺炎/遗传学
2) Hereditary pancreatitis
遗传性胰腺炎
1.
A novel mutation of PRSS1 gene in a Chinese hereditary pancreatitis family;
一个遗传性胰腺炎家系中新发现的胰蛋白酶原基因突变
2.
In four patients with chronic pancreatitis from two hereditary pancreatitis (HP) families and 63 normal controls, five exons of cationic trypsinogen gene (PRSS1) were amplified by PCR and it s products were analyzed by sequencing, related clinical data were also collected.
用基因产物直接测序法对2个遗传性胰腺炎家系中胰腺炎患者(共有4例成员)的胰蛋白酶原基因(cationic trypsinogen,PRSS1)5个外显子进行测序,并分析其各自的临床特征。
3) Pancreatic neoplasms/genetics
胰腺肿瘤/遗传学
4) pancreatitis/enzymology
胰腺炎/酶学
5) Pancreatitis/pancreas
胰腺炎/胰腺
6) pancreatitis/PA
胰腺炎/病理学
补充资料：遗传性慢性再发性胰腺炎
遗传性慢性再发性胰腺炎
hereditary chronic relapsing pancreatitis
一种少见的先天性疾患，属于常染色体显性遗传。主要症状是再发性上腹部疼痛，背部亦有痛感，呕吐与发热并不常见。腹部X线平片可见胰腺或胆囊钙化点，血脂及尿氨基酸均增高。常并发营养不良、脂肪泻、胰腺肿瘤、胰腺假性囊肿。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条