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Autosomal recessive polycystic kidney disease with congenital hepatic fibrosis: A report of 3 cases in a pedigree and literature review
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摘要:
<正>常染色体隐性遗传性多囊肾（autosomal recessive polycystic kidney disease,ARPKD）是一种多发于儿童肾脏和胆道系统的严重单基因遗传病[1],以肝门静脉系统发育不全为特征,包括胆管板重塑缺陷、胆管增生和先天性肝纤维化（congenital hepatic fibrosis,CHF）[2-4]。ARPKD发病率为1∶20 000～40 000,属罕见病[5],合并CHF的发病率更低。本文将一家系（3姐弟）
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关键词:
- 多囊肾,常染色体隐性 /
- 先天性肝纤维化 /
- 病例报告
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[1]LIU F, XUAN ZL, LIU K, et al.A case of adult autosomal recessive polycystic kidney disease[J].J Clin Hepatol, 2017, 33 (3) :521-522. (in Chinese) 刘丰, 玄志鲁, 刘凯, 等.成人常染色体隐性遗传性多囊肾病1例报告[J].临床肝胆病杂志, 2017, 33 (3) :521-522. [2]GUNAY-AYGUN M, FONT-MONTGOMERY E, LUKOSE L, et al.Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease[J].Gastroenterology, 2013, 144 (1) :112-121. [3]TURKBEY B, OCAK I, DARYANANI K, et al.Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARP-KD/CHF) [J].Pediatr Radiol, 2009, 39 (2) :100-111. [4]SHNEIDER BL, MAGID MS.Liver disease in autosomal recessive polycystic kidney disease[J].Pediatr Transplant, 2005, 9 (5) :634-639. [5]DELL KM.The spectrum of polycystic kidney disease in children[J].Adv Chronic Kidney Dis, 2011, 18 (5) :339-347. [6]ZHANG D, LU L, YANG HB, et al.Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease[J].Chin Med J (Engl) , 2012, 125 (14) :2482-2486. [7]GUNAY-AYGUNM, AVNER ED, BACALLAO RL, et al.Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis:Summary statement of a first National Institutes of Health/Office of Rare Diseases conference[J].J Pediatr, 2006, 149 (2) :159-164. [8]BRINKERT F, LEHNHARDT A, MONTOYA C, et al.Combined Iiver-kidney transplantation for children with autosoma I recessive polycystic kidney disease (ARPKD) :Indication and outcome[J].Transpl Int, 2013, 26 (6) :640-650. [9]SWEENEY WE Jr, AVNER ED.Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD) [J].Cell Tissue Res, 2006, 326 (3) :671-685. [10]AL-BHALAL L, AKHTAR M.Mole cular basis of autosomal recessive polycystic kidney disease (ARPKD) [J].Adv Anat Pathol, 2008, 15 (1) :54-58. [11]SUN LN, ZHANG L, LIANG QH.Research progress of autosomaI 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. [12]SHEN XF, XU YC, MENG JL, et al.Research advances in the pathogenesis of autosomal recessive polycystic kidney disease[J].Chin J Pediatr, 2018, 56 (2) :157-160. (in Chinese) 沈旭峰, 徐雨辰, 孟佳林, 等.常染色体隐性遗传性多囊肾病发病机制的研究进展[J].中华儿科杂志, 2018, 56 (2) :157-160. [13]TRAN PV, TALBOTT GC, TURBE-DOAN A, et al.Downregulating hedgehog signalingreduces renal cystogenic potential of mouse models[J].J Am Soc Nephrol, 2014, 25 (10) :2201-2212. [14]WEHRMANA, KRIEGERMEIER A, WEN JD.Diagnosis and management of hepatobiliary complications in autosomal recessive polycystic kidney disease[J].Front Pediatr, 2017, 5:124. [15]DIAS NF, LANZARINI V, ONUCHIC LF, et al.Clinical aspects of autosomal recessive polycystic kidney diseasee[J].J Bras Nefrol, 2010, 32:263-267. [16]ARNON R, ROSENBERG HK, SUCHY FJ.Caroli disease, caroli syndrome, and congenital hepatic fibrosis[M].Armington:Humana Press, 2010:331-358. [17]MELCHIONDA S, PALLADIAN T, CASTELLANA S, et al.Expanding the mutation spectrum in 130 probands with ARPKD:Identification of 62 novel PKHD 1 mutations by sanger sequencing and MLPA analysis[J].J Hum Genet, 2016, 61 (9) :811-821. [18]FONCK C, CHAUVEAU D, GAGNADOUX MF, et al.Autosomal recessive polycystic kidney disease in adulthood[J].Nephrol Dial Transplant, 2001, 16 (8) :1648-1652. -
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