Abernethy malformation associated with Caroli’s syndrome in a patient with a PKHD1 mutation: a case report
Tóm tắt
Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt. Caroli’s disease is a rare congenital condition characterised by non-obstructive saccular intrahepatic bile duct dilation. Caroli’s disease combined with congenital hepatic fibrosis and/or renal cystic disease is referred to - Caroli’s syndrome. The combination of Abernethy malformation and Caroli’s syndrome has not been reported previously. We present the case of a 23-year-old female who was found to have both type II Abernethy malformation and Caroli’s syndrome. Radiological imaging was performed, including computed tomography with three-dimensional reconstruction and magnetic resonance imaging with (magnetic resonance cholangiopancreatography (MRCP), which revealed a side-to-side portocaval shunt, intrahepatic bile duct dilation, congenital hepatic fibrosis, and renal cysts. In addition, PKHD1 (polycystic kidney and hepatic disease 1) gene mutational analysis revealed a paternally inherited heterozygous missense mutation (c.1877A > G, p.Lys626Arg). A liver biopsy confirmed the pathological features of Caroli’s syndrome. To our knowledge, this is the first reported case of a patient with both type II Abernethy malformation and Caroli’s syndrome diagnosed using a comprehensive approach that included imaging, mutational analysis, and liver biopsy. Additionally, this is the second reported case to date of an Asian patient presenting with liver and renal disorders with the same paternally inherited PKHD1 missense mutation.
Tài liệu tham khảo
Abstracts of the 26th Annual Conference of APASL. February 15-19, 2017, shanghai, China. Hepatol Int. 2017;11(Suppl 1):1–1093.
Abernethy J. J banks. Account of two instances of uncommon formation in the viscera of the human body. Phil Trans R Soc Lond. 1793;83:59–66.
Hao Y, Hong X, Zhao X. Congenital absence of the portal vein associated with focal nodular hyperplasia of the liver and congenital heart disease (Abernethy malformation): a case report and literature review. Oncol Lett. 2015;9(2):695–700.
Morgan G, Superina R. Congenital absence of the portal vein: two cases and a proposed classification system for portasystemic vascular anomalies. J Pediatr Surg. 1994;29(9):1239–41.
Murray CP, Yoo SJ, Babyn PS. Congenital extrahepatic portosystemic shunts. Pediatr Radiol. 2003;33(9):614–20.
Mistinova J, Valacsai F, Varga I. Congenital absence of the portal vein--case report and a review of literature. Clin Anat. 2010;23(7):750–8.
Singhal M, Lal A, Thapa BR, Prakash M, Shanbhogue KP, Khandelwal N. Congenital atresia of portal vein with portocaval shunt associated with cardiac defects, skeletal deformities, and skin lesions in a boy. J Pediatr Surg. 2008;43(8):e25–8.
Witters P, Maleux G, George C, Delcroix M, Hoffman I, Gewillig M, Verslype C, Monbaliu D, Aerts R, Pirenn J, et al. Congenital veno-venous malformations of the liver: widely variable clinical presentations. J Gastroenterol Hepatol. 2008;23(8 Pt 2):e390–4.
Kobayashi N, Niwa T, Kirikoshi H, Fujita K, Yoneda M, Saito S, Nakajima A. Clinical classification of congenital extrahepatic portosystemic shunts. Hepatol Res. 2010;40(6):585–93.
Desmet VJ. Ludwig symposium on biliary disorders--part I. Pathogenesis of ductal plate abnormalities. Mayo Clin Proc. 1998;73(1):80–9.
Veigel MC, Prescott-Focht J, Rodriguez MG, Zinati R, Shao L, Moore CA, Lowe LH. Fibropolycystic liver disease in children. Pediatr Radiol. 2009;39(4):317–27.
Adeva M, El-Youssef M, Rossetti S, Kamath PS, Kubly V, Consugar MB, Milliner DM, King BF, Torres VE, Harris PC. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore). 2006;85(1):1–21.
Kerkar N, Norton K, Suchy FJ. The hepatic fibrocystic diseases. Clin Liver Dis. 2006;10(1):55–71.
Howard ER, Davenport M. Congenital extrahepatic portocaval shunts--the Abernethy malformation. J Pediatr Surg. 1997;32(3):494–7.
Kumar A, Kumar J, Aggarwal R, Srivastava S. Abernethy malformation with portal vein aneurysm. Diagn Interv Radiol. 2008;14(3):143–6.
Konstas AA, Digumarthy SR, Avery LL, Wallace KL, Lisovsky M, Misdraji J, Hahn PF. Congenital portosystemic shunts: imaging findings and clinical presentations in 11 patients. Eur J Radiol. 2011;80(2):175–81.
Kong Y, Zhang H, Liu C, Wu D, He X, Xiao M, Zhao G, Zhang H. Abernethy malformation with multiple aneurysms: incidentally found in an adult woman with Caroli's disease. Ann Hepatol. 2013;12(2):327–31.
Yonem O, Bayraktar Y. Clinical characteristics of Caroli's syndrome. World J Gastroenterol. 2007;13(13):1934–7.
Guay-Woodford LM, Desmond RA. Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 2003;111(5 Pt 1):1072–80.
Gunay-Aygun M, Avner ED, Bacallao RL, Choyke PL, Flynn JT, Germino GG, Guay-Woodford L, Harris P, Heller T, Ingelfinger J, 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 Pediatr. 2006;149(2):159–64.
Turkbey B, Ocak I, Daryanani K, Font-Montgomery E, Lukose L, Bryant J, Tuchman M, Mohan P, Heller T, WA G, Choyke PL, Gunay-Aygun M, et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol. 2009;39(2):100–11.
Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet. 2002;70(5):1305–17.
Tavira B, Gomez J, Malaga S, Santos F, Fernandez-Aracama J, Alonso B, Iglesias S, Benavides A, Hernando I, Plasencia A, Alvarez V, Coto E. A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients. Gene. 2015;561(1):165–9.
Jang DG, Chae H, Shin JC, Park IY, Kim M, Kim Y. Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis. J Obstet Gynaecol Res. 2011;37(11):1744–7.
Collard B, Maleux G, Heye S, Cool M, Bielen D, George C, Roskams T, Van Steenbergen W. Value of carbon dioxide wedged venography and transvenous liver biopsy in the definitive diagnosis of Abernethy malformation. Abdom Imaging. 2006;31(3):315–9.
Kondo F, Nagao T, Sato T, Tomizawa M, Kondo Y, Matsuzaki O, Wada K, Wakatsuki S, Nagao K, Tsubouchi H, Kobayashi H, Yasumi K, Tsukayama C, Suzuki M. Etiological analysis of focal nodular hyperplasia of the liver, with emphasis on similar abnormal vasculatures to nodular regenerative hyperplasia and idiopathic portal hypertension. Pathol Res Pract. 1998;194(7):487–95.
Lisovsky M, Konstas AA, Misdraji J. Congenital extrahepatic portosystemic shunts (Abernethy malformation): a histopathologic evaluation. Am J Surg Pathol. 2011;35(9):1381–90.
Franchi-Abella S, Branchereau S, Lambert V, Fabre M, Steimberg C, Losay J, Riou JY, Pariente D, Gauthier F, Jacquemin E, Bernard O. Complications of congenital portosystemic shunts in children: therapeutic options and outcomes. J Pediatr Gastroenterol Nutr. 2010;51(3):322–30.
Lautz TB, Tantemsapya N, Rowell E, Superina RA. Management and classification of type II congenital portosystemic shunts. J Pediatr Surg. 2011;46(2):308–14.