常染色体隐性遗传性多囊肾合并多囊肝1例报告

李嘉林; 陈铭

doi:10.3969/j.issn.1001-5256.2020.03.038

常染色体隐性遗传性多囊肾合并多囊肝1例报告

DOI: 10.3969/j.issn.1001-5256.2020.03.038

李嘉林,
陈铭

1. 广州中医药大学
2. 广州中医药大学第一附属医院泌尿外科

详细信息

中图分类号: R692;R575
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出版历程
- 出版日期: 2020-03-20

A case of adult autosomal recessive polycystic kidney disease with polycystic liver disease

Guangzhou University of Chinese Medicine

摘要

摘要: <正>多囊肾是一种常见的单基因先天性遗传病,可以显性或隐性方式遗传[1]。其中,常染色体隐性遗传性多囊肾（autosomal recessive polycystic kidney disease,ARPKD）较为罕见,通常被认为是由PKHD1突变引起的遗传同质性疾病,与纤毛功能障碍有关,发病率约为1∶20 000,多见于婴幼儿时期,存活至成人者极少[2],至今国
- 多囊肾,常染色体隐性 /
- 多囊肝 /
- 成年人
- polycystic kidney,autosomal recessive /
- polycystic liver /
- adult

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参考文献(13)

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[2] BERCKMOES V,VERDYCK P,de BECKER P,et al. Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease[J]. Hum Reprod,2019,34(5):949-958.

[3] WICHER D,JANKOWSKA I,LIPIN'SKI P,et al. Transient elastography for detection of liver fibrosis in children with autosomal recessive polycystic kidney disease[J]. Front Pediatr,2019,6:422.

[4] HARTUNG EA,WEN J,POZINCK L,et al. Ultrasound elastography to quantify liver disease severity in autosomal recessive polycystic kidney disease[J]. J Pediatr,2019,209:107-115.

[5] HARTUNG EA,GUAY-WOODFORD LM. Autosomal recessive polycystic kidney disease:A hepatorenal fibrocystic disorder with pleiotropic effects[J]. Pediatrics,2014,134(3):e833-e845.

[6] CASTRO PT,MATOS APP,WERNER H,et al. Prenatal diagnosis of Caroli disease associated with autosomal recessive polycystic kidney disease by 3-D ultrasound and magnetic resonance imaging[J]. J Obstet Gynaecol Can,2017,39(12):1176-1179.

[7] HOYER PF. Clinical manifestations of autosomal recessive polycystic kidney disease[J]. Curr Opin Pediatr,2015,27(2):186-192.

[8] BERMANN C. Genetics of autosomal recessive polycystic kidney disease and its differential diagnoses[J]. Front Pediatr,2018,5:221.

[9] LU H,GALEANO MCR,OTT E,et al. Mutations in DZIP1L,which encodes a ciliary-transition-zone protein,cause autosomal recessive polycystic kidney disease[J]. Nat Genet,2017,49(7):1025-1034.

[10] CHINALI M,LUCCHETTI L,RICOTTA A,et al. Cardiac abnormalities in children with autosomal recessive polycystic kidney disease[J]. Cardiorenal Med,2019,9(3):180-189.

[11] RIVAS A,EPELMAN M,DANZER E,et al. Prenatal MR imaging features of Caroli syndrome in association with autosomal recessive polycystic kidney disease[J]. Radiol Case Rep,2018,14(2):265-268.

[12] ZERRES K,RUDNIK-SCHÖNEBORN S,DEGET F,et al. Autosomal recessive polycystic kidney disease in 115 children:Clinical presentation,course and influence of gender. Arbeitsgemeinschaft für Pdiatrische,Nephrologie[J]. Acta Paediatr,1996,85(4):437-445.

[13] van KEIMPEMA L,NEVENS F,ADAM R,et al. Excellent survival after liver transplantation for isolated polycystic liver disease:An European Liver Transplant Registry study[J].Transpl Int,2011,24(12):1239-1245.

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