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ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Issue 5
May  2017
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Caroli disease with nephronophthisis: a case report and literature review

DOI: 10.3969/j.issn.1001-5256.2017.05.033
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  • Published Date: 2017-05-20
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    [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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