成人常染色体隐性遗传性多囊肾病1例报告

刘丰; 玄志鲁; 刘凯; 韩铠泽; 杨帆; 刘亚辉

doi:10.3969/j.issn.1001-5256.2017.03.026

成人常染色体隐性遗传性多囊肾病1例报告

DOI: 10.3969/j.issn.1001-5256.2017.03.026

吉林大学白求恩第一医院肝胆胰外科

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中图分类号: R692.1
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出版历程
- 出版日期: 2017-03-20

Department of Hepato-Biliary-Pancreatic Surgery, The First Hospital of Jilin University

摘要

摘要: <正>常染色体隐性遗传性多囊肾病（autosomal recessive polycystic kidney disease,ARPKD）,也称多囊肾肝病（polycystic kidney and hepatic disease,PKHD）,是一种多发于儿童肾脏及肝脏的严重单基因遗传病,发病率为1∶20 000[1]。该病主要表现为双肾形成多个进行性增大的囊肿,后期出现肾功能不全,严重者需透析治疗;肝脏表现为不同程度的肝囊肿和肝硬化、胆管扩张以及先天性的肝门静脉纤维化[2]。患者多数早年夭折,极少存活至成年,成年病例国内未见报道,
- 多囊肾,常染色体隐性 /
- 肝肿瘤 /
- 肝硬化 /
- 成年人 /
- 病例报告
- polycystic kidney /
- autosomal recessive /
- liver neoplasms /
- liver cirrhosis /
- adult

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参考文献(9)

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[2]BRINKERT F, LEHNHARDT A, MONTOYA C, et al.Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD) :indication and outcome[J].Transpl Int, 2013, 26 (6) :640-650.

[3]SUN LN, ZHANG L, LIANG QH.Research progress of autosomal recessive polycystic kidney disease[J].J Clin Pediatr, 2015, 33 (3) :295-298. (in Chinese) 孙丽娜, 张琳, 梁庆红.常染色体隐性遗传性多囊肾病的研究进展[J].临床儿科杂志, 2015, 33 (3) :295-298.

[4]GASCUE C, KATSANIS N, BADANO JL.Cystic diseases of the kidney:ciliary dysfunction and cystogenic mechanisms[J].Pediatr Nephrol, 2011, 26 (8) :1181-1195.

[5]GUNAY-AYGUN M, TUCHMAN M, FONT-MONTGOMERYE, et al.PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis[J].Mol Genet Metab, 2010, 99 (2) :160-173.

[6]DIAS NF, LANZARINI V, ONUCHIC LF, et al.Clinical aspects of autosomal recessive polycystic kidney disease[J].J Bras Nefrol, 2010, 32 (3) :263-267.

[7]GOTO M, HOXHA N, OSMAN R, et al.The renin-angiotensin system and hypertension in autosomal recessive polycystic kidney disease[J].Pediatr Nephrol, 2010, 25 (12) :2449-2457.

[8]LIU SP, DING J.Clinical and genetic diagnosis of autosomal recessive polycystic kidney disease[J].Chin J Pediatr, 2013, 51 (4) :311-313. (in Chinese) 刘淑平, 丁洁.常染色体隐性遗传性多囊肾临床与基因诊断[J].中华儿科杂志, 2013, 51 (4) :311-313.

[9]HARTUNG EA, GUAY-WOODFORD LM.Autosomal recessive polycystic kidney disease:a hepatorenal fibrocystic disorder with pleiotropic effects[J].Pediatrics, 2014, 134 (3) :833-845.

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