Caroli病伴肾消耗病1例报告并文献复习

欧阳雨晴; 陆海英; 徐小元

doi:10.3969/j.issn.1001-5256.2017.05.033

Caroli病伴肾消耗病1例报告并文献复习

DOI: 10.3969/j.issn.1001-5256.2017.05.033

北京大学第一医院感染疾病科

基金项目:

国家十二五科技重大专项资助项目(2012ZX10002003)；

详细信息

中图分类号: R575;R692
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出版历程
- 出版日期: 2017-05-20

Caroli disease with nephronophthisis: a case report and literature review

Department of Infectious Diseases, Peking University First Hospital

Research funding:

摘要

摘要:
<正>Caroli病是一种先天性多发节段性的肝内胆道扩张合并先天性肝纤维化的疾病,临床表现多样,主要通过影像学表现诊断。Caroli病常并发多囊肾,但并发青少年肾消耗病(nephronophthisis,NPHP)的病例较为少见。现将1例Caroli病并发NPHP的患者报道如下。1病例资料患者女性,18岁,因"反复水肿11个月,肝功能异常7个月"于2016年10月24日入本院。患者11个月前无明显诱因出现双下肢水肿,未予诊治。7个月前患者于发热、干咳后水肿加重,由颜面部逐渐蔓延
- Caroli病 /
- 肾消耗病 /
- 病例报告
- Caroli disease /
- nephronophthisis /
- case reports

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参考文献(16)

[1]LIANG JJ, KAMATH PS.Caroli syndrome[J].Mayo Clin Proc, 2013, 88 (6) :e59.

[2]PARK E, LEE JM, AHN YH, et al.Hepatorenal fibrocystic diseases in children[J].Pediatr Nephrol, 2016, 31 (1) :113-119.

[3]SWEENEY WE, AVNER ED.Polycystic kidney disease, autosomal recessive[EB/OL].Gene Rev, 2001.https://www.ncbi.nlm.nih.gov/pubmed/20301501

[4]OBUSEZ EC, UDAYASANKAR U.Autosomal recessive polycystic kidney disease with Caroli syndrome[J].J Urol, 2015, 193 (2) :679-680.

[5]WARD CJ, HOGAN MC, ROSSETTI S, et al.The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein[J].2002, 30 (3) :259-269.

[6]COURCET JB, MINELLO A, PRIEUR F, et al.Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations[J].Am J Med Genet A, 2015, 167 (12) :3046-3053.

[7]HAO X, LIU S, DONG Q, et al.Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease[J].PLo S One, 2014, 9 (4) :e92661.

[8]PERRICONE G, VANZULLI A.Education and imaging.Hepatology:"central dot sign"of Caroli syndrome[J].J Gastroenterol Hepatol, 2015, 30 (2) :234.

[9]TELEGA G, CRONIN D, AVNER ED.New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications[J].Pediatr Transplant, 2013, 17 (4) :328-335.

[10]WEN JW, FURTH SL, RUEBNER RL.Kidney and liver transplantation in children with fibrocystic liver-kidney disease:data from the US Scientific Registry of Transplant Recipients:1990-2010[J].Pediatr Transplant, 2014, 18 (7) :726-732.

[11]STOKMAN M, LILIEN M, KNOERS N.Nephronophthisis[EB/OL].Gene Reviews, 2016.https://www.ncbi.nlm.nih.gov/pubmed/27336129

[12]HAGHIGHI A, SAVAJ S, HAGHIGHI-KAKHKI H, et al.Identification of an NPHP1 deletion causing adult form of nephronophthisis[J].Ir J Med Sci, 2016, 185 (3) :589-595.

[13]KANG HG, LEE HK, AHN YH, et al.Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy[J].Exp Mol Med, 2016, 48 (8) :e251.

[14]LEE JM, AHN YH, KANG HG, et al.Nephronophthisis 13:implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney[J].Pediatr Nephrol, 2015, 30 (9) :1451-1458.

[15]PEREGRIN AI, URBANEJA LM, QUIJADA TD.Polycystic ovarian syndrome in a woman with polycystic kidney disease[J].Eur JObstet Gynecol Reprod Biol, 2008, 140 (2) :282-283.

[16]SEGASOTHY M, NORAZLINA MY, ONG PH, et al.Polycystic kidney disease associated with polycystic ovarian syndrome[J].Nephron, 1992, 62 (4) :482-483.

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