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ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 36 Issue 3
Mar.  2020
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A case of adult autosomal recessive polycystic kidney disease with polycystic liver disease

DOI: 10.3969/j.issn.1001-5256.2020.03.038
  • Published Date: 2020-03-20
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  • [1] FREEDMAN BS,LAM AQ,SUNDSBAK JL,et al. Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients with PKD1 mutations[J]. J Am Soc Nephrol,2013,24(10):1571-1586.
    [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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