Advances in diagnosis and treatment of polycystic liver disease_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

KANG Yuhang ¹ , ZHOU Yongjie ^1,2 , YAN Lünan ^1,2 , YANG Jiayin ^1,2 , WEN Tianfu ^1,2 ,  ZHANG Xiaoyun ^1,2

1. Department of Liver Surgery and Liver Transplantation Center, West China Hospital, Sichuan University, Chengdu 610041, P. R. China;
2. Liver Transplantation Laboratory, West China Hospital, Sichuan University, Chengdu 610041, P. R. China;

Corresponding author：

ZHANG Xiaoyun, Email: zhangxiaoyun@scu.edu.cn

Keywords：

polycystic liver disease; polycystic kidney disease; diagnosis; treatment

DOI：

10.7507/1007-9424.202203089

Video：

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Objective To summarize the current progress in diagnosis and treatment of polycystic liver disease, and provide ideas for further research direction and clinical practice of polycystic liver disease. Method The domestic and foreign literature about polycystic liver disease was reviewed, screened, and summarized. Results The diagnosis, evaluation, and classification of polycystic liver disease were mainly performed clinically by abdominal ultrasound and CT. Surgical treatment was the main treatment, including aspiration sclerotherapy, fenestration, segmental hepatectomy, and liver transplantation. Conclusions The classification and evaluation scheme of polycystic liver disease needs to be improved, and its medical treatment still needs further research. Estrogen receptor and gonadotropin-releasing hormone receptor are promising therapeutic targets.

Citation： KANG Yuhang, ZHOU Yongjie, YAN Lünan, YANG Jiayin, WEN Tianfu, ZHANG Xiaoyun. Advances in diagnosis and treatment of polycystic liver disease. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2022, 29(10): 1368-1375. doi: 10.7507/1007-9424.202203089 Copy

1.	Ong AC, Devuyst O, Knebelmann B, et al. Autosomal dominant polycystic kidney disease: the changing face of clinical management. Lancet, 2015, 385(9981): 1993-2002.
2.	Aapkes SE, Bernts LHP, Barten TRM, et al. Estrogens in polycystic liver disease: a target for future therapies? Liver Int, 2021, 41(9): 2009-2019.
3.	Bergmann C, Guay-Woodford LM, Harris PC, et al. Polycystic kidney disease. Nat Rev Dis Primers, 2018, 4(1): 50. doi: 10.1038/s41572-018-0047-y.
4.	Cornec-Le Gall E, Torres VE, Harris PC. Genetic complexity of autosomal dominant polycystic kidney and liver diseases. J Am Soc Nephrol, 2018, 29(1): 13-23.
5.	Senum SR, Li YSM, Benson KA, et al. Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. Am J Hum Genet, 2022, 109(1): 136-156.
6.	Pisani I, Allinovi M, Palazzo V, et al. More dissimilarities than affinities between DNAJB11-PKD and ADPKD. Clin Kidney J, 2022, 15(6): 1179-1187.
7.	Besse W, Dong K, Choi J, et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest, 2017, 127(5): 1772-1785.
8.	Cornec-Le Gall E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet, 2019, 393(10174): 919-935.
9.	van Aerts RMM, van de Laarschot LFM, Banales JM, et al. Clinical management of polycystic liver disease. J Hepatol, 2018, 68(4): 827-837.
10.	Perugorria MJ, Masyuk TV, Marin JJ, et al. Polycystic liver diseases: advanced insights into the molecular mechanisms. Nat Rev Gastroenterol Hepatol, 2014, 11(12): 750-761.
11.	Gevers TJ, Drenth JP. Diagnosis and management of polycystic liver disease. Nat Rev Gastroenterol Hepatol, 2013, 10(2): 101-108.
12.	Abu-Wasel B, Walsh C, Keough V, et al. Pathophysiology, epidemiology, classification and treatment options for polycystic liver diseases. World J Gastroenterol, 2013, 19(35): 5775-5786.
13.	Cnossen WR, Drenth JP. Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. Orphanet J Rare Dis, 2014, 9: 69. doi: 10.1186/1750-1172-9-69.
14.	van Keimpema L, De Koning DB, Van Hoek B, et al. Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases. Liver Int, 2011, 31(1): 92-98.
15.	Chandok N. Polycystic liver disease: a clinical review. Ann Hepatol, 2012, 11(6): 819-826.
16.	Wong MY, McCaughan GW, Strasser SI. An update on the pathophysiology and management of polycystic liver disease. Expert Rev Gastroenterol Hepatol, 2017, 11(6): 569-581.
17.	Kim H, Park HC, Ryu H, et al. Clinical correlates of mass effect in autosomal dominant polycystic kidney disease. PLoS One, 2015, 10(12): e0144526. doi: 10.1371/journal. pone.0144526.
18.	Temmerman F, Dobbels F, Ho TA, et al. Development and validation of a polycystic liver disease complaint-specific assessment (POLCA). J Hepatol, 2014, 61(5): 1143-1150.
19.	Neijenhuis MK, Gevers TJ, Hogan MC, et al. Development and validation of a disease-specific questionnaire to assess patient-reported symptoms in polycystic liver disease. Hepatology, 2016, 64(1): 151-160.
20.	Chapman AB, Devuyst O, Eckardt KU, et al. Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a kidney disease: improving global outcomes (KDIGO) Controversies Conference. Kidney Int, 2015, 88(1): 17-27.
21.	Bakoyiannis A, Delis S, Triantopoulou C, et al. Rare cystic liver lesions: a diagnostic and managing challenge. World J Gastroenterol, 2013, 19(43): 7603-7619.
22.	Temmerman F, Missiaen L, Bammens B, et al. Systematic review: the pathophysiology and management of polycystic liver disease. Aliment Pharmacol Ther, 2011, 34(7): 702-713.
23.	Drenth JP, Chrispijn M, Nagorney DM, et al. Medical and surgical treatment options for polycystic liver disease. Hepatology, 2010, 52(6): 2223-2230.
24.	Chauveau D, Fakhouri F, Grünfeld JP. Liver involvement in autosomal-dominant polycystic kidney disease: therapeutic dilemma. J Am Soc Nephrol, 2000, 11(9): 1767-1775.
25.	Russell RT, Pinson CW. Surgical management of polycystic liver disease. World J Gastroenterol, 2007, 13(38): 5052-5059.
26.	van Keimpema L, Ruurda JP, Ernst MF, et al. Laparoscopic fenestration of liver cysts in polycystic liver disease results in a median volume reduction of 12.5%. J Gastrointest Surg, 2008, 12(3): 477-482.
27.	Gigot JF, Jadoul P, Que F, et al. Adult polycystic liver disease: is fenestration the most adequate operation for long-term management? Ann Surg, 1997, 225(3): 286-294.
28.	Schnelldorfer T, Torres VE, Zakaria S, et al. Polycystic liver disease: a critical appraisal of hepatic resection, cyst fenestration, and liver transplantation. Ann Surg, 2009, 250(1): 112-118.
29.	Bernts LHP, Neijenhuis MK, Edwards ME, et al. Symptom relief and quality of life after combined partial hepatectomy and cyst fenestration in highly symptomatic polycystic liver disease. Surgery, 2020, 168(1): 25-32.
30.	Kirchner GI, Rifai K, Cantz T, et al. Outcome and quality of life in patients with polycystic liver disease after liver or combined liver-kidney transplantation. Liver Transpl, 2006, 12(8): 1268-1277.
31.	Masyuk TV, Masyuk AI, LaRusso NF. Therapeutic targets in polycystic liver disease. Curr Drug Targets, 2017, 18(8): 950-957.
32.	Hogan MC, Masyuk TV, Page LJ, et al. Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease. J Am Soc Nephrol, 2010, 21(6): 1052-1061.
33.	van Keimpema L, Nevens F, Vanslembrouck R, et al. Lanreotide reduces the volume of polycystic liver: a randomized, double-blind, placebo-controlled trial. Gastroenterology, 2009, 137(5): 1661-1668.
34.	Hogan MC, Masyuk TV, Page L, et al. Somatostatin analog therapy for severe polycystic liver disease: results after 2 years. Nephrol Dial Transplant, 2012, 27(9): 3532-3539.
35.	Griffiths J, Mills MT, Ong AC. Long-acting somatostatin analogue treatments in autosomal dominant polycystic kidney disease and polycystic liver disease: a systematic review and meta-analysis. BMJ Open, 2020, 10(1): e032620. doi: 10.1136/bmjopen-2019-032620.
36.	Khan S, Dennison A, Garcea G. Medical therapy for polycystic liver disease. Ann R Coll Surg Engl, 2016, 98(1): 18-23.
37.	Gevers TJ, Inthout J, Caroli A, et al. Young women with polycystic liver disease respond best to somatostatin analogues: a pooled analysis of individual patient data. Gastroenterology, 2013, 145(2): 357-365.
38.	Aussilhou B, Dokmak S, Dondero F, et al. Treatment of polycystic liver disease. Update on the management. J Visc Surg, 2018, 155(6): 471-481.
39.	Chrispijn M, Gevers TJ, Hol JC, et al. Everolimus does not further reduce polycystic liver volume when added to long acting octreotide: results from a randomized controlled trial. J Hepatol, 2013, 59(1): 153-159.
40.	Deutschmann K, Reich M, Klindt C, et al. Bile acid receptors in the biliary tree: TGR5 in physiology and disease. Biochim Biophys Acta Mol Basis Dis, 2018, 1864(4 Pt B): 1319-1325.
41.	Barten TRM, Bernts LHP, Drenth JPH, et al. New insights into targeting hepatic cystogenesis in autosomal dominant polycystic liver and kidney disease. Expert Opin Ther Targets, 2020, 24(6): 589-599.

1. Ong AC, Devuyst O, Knebelmann B, et al. Autosomal dominant polycystic kidney disease: the changing face of clinical management. Lancet, 2015, 385(9981): 1993-2002.
2. Aapkes SE, Bernts LHP, Barten TRM, et al. Estrogens in polycystic liver disease: a target for future therapies? Liver Int, 2021, 41(9): 2009-2019.
3. Bergmann C, Guay-Woodford LM, Harris PC, et al. Polycystic kidney disease. Nat Rev Dis Primers, 2018, 4(1): 50. doi: 10.1038/s41572-018-0047-y.
4. Cornec-Le Gall E, Torres VE, Harris PC. Genetic complexity of autosomal dominant polycystic kidney and liver diseases. J Am Soc Nephrol, 2018, 29(1): 13-23.
5. Senum SR, Li YSM, Benson KA, et al. Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. Am J Hum Genet, 2022, 109(1): 136-156.
6. Pisani I, Allinovi M, Palazzo V, et al. More dissimilarities than affinities between DNAJB11-PKD and ADPKD. Clin Kidney J, 2022, 15(6): 1179-1187.
7. Besse W, Dong K, Choi J, et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest, 2017, 127(5): 1772-1785.
8. Cornec-Le Gall E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet, 2019, 393(10174): 919-935.
9. van Aerts RMM, van de Laarschot LFM, Banales JM, et al. Clinical management of polycystic liver disease. J Hepatol, 2018, 68(4): 827-837.
10. Perugorria MJ, Masyuk TV, Marin JJ, et al. Polycystic liver diseases: advanced insights into the molecular mechanisms. Nat Rev Gastroenterol Hepatol, 2014, 11(12): 750-761.
11. Gevers TJ, Drenth JP. Diagnosis and management of polycystic liver disease. Nat Rev Gastroenterol Hepatol, 2013, 10(2): 101-108.
12. Abu-Wasel B, Walsh C, Keough V, et al. Pathophysiology, epidemiology, classification and treatment options for polycystic liver diseases. World J Gastroenterol, 2013, 19(35): 5775-5786.
13. Cnossen WR, Drenth JP. Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. Orphanet J Rare Dis, 2014, 9: 69. doi: 10.1186/1750-1172-9-69.
14. van Keimpema L, De Koning DB, Van Hoek B, et al. Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases. Liver Int, 2011, 31(1): 92-98.
15. Chandok N. Polycystic liver disease: a clinical review. Ann Hepatol, 2012, 11(6): 819-826.
16. Wong MY, McCaughan GW, Strasser SI. An update on the pathophysiology and management of polycystic liver disease. Expert Rev Gastroenterol Hepatol, 2017, 11(6): 569-581.
17. Kim H, Park HC, Ryu H, et al. Clinical correlates of mass effect in autosomal dominant polycystic kidney disease. PLoS One, 2015, 10(12): e0144526. doi: 10.1371/journal. pone.0144526.
18. Temmerman F, Dobbels F, Ho TA, et al. Development and validation of a polycystic liver disease complaint-specific assessment (POLCA). J Hepatol, 2014, 61(5): 1143-1150.
19. Neijenhuis MK, Gevers TJ, Hogan MC, et al. Development and validation of a disease-specific questionnaire to assess patient-reported symptoms in polycystic liver disease. Hepatology, 2016, 64(1): 151-160.
20. Chapman AB, Devuyst O, Eckardt KU, et al. Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a kidney disease: improving global outcomes (KDIGO) Controversies Conference. Kidney Int, 2015, 88(1): 17-27.
21. Bakoyiannis A, Delis S, Triantopoulou C, et al. Rare cystic liver lesions: a diagnostic and managing challenge. World J Gastroenterol, 2013, 19(43): 7603-7619.
22. Temmerman F, Missiaen L, Bammens B, et al. Systematic review: the pathophysiology and management of polycystic liver disease. Aliment Pharmacol Ther, 2011, 34(7): 702-713.
23. Drenth JP, Chrispijn M, Nagorney DM, et al. Medical and surgical treatment options for polycystic liver disease. Hepatology, 2010, 52(6): 2223-2230.
24. Chauveau D, Fakhouri F, Grünfeld JP. Liver involvement in autosomal-dominant polycystic kidney disease: therapeutic dilemma. J Am Soc Nephrol, 2000, 11(9): 1767-1775.
25. Russell RT, Pinson CW. Surgical management of polycystic liver disease. World J Gastroenterol, 2007, 13(38): 5052-5059.
26. van Keimpema L, Ruurda JP, Ernst MF, et al. Laparoscopic fenestration of liver cysts in polycystic liver disease results in a median volume reduction of 12.5%. J Gastrointest Surg, 2008, 12(3): 477-482.
27. Gigot JF, Jadoul P, Que F, et al. Adult polycystic liver disease: is fenestration the most adequate operation for long-term management? Ann Surg, 1997, 225(3): 286-294.
28. Schnelldorfer T, Torres VE, Zakaria S, et al. Polycystic liver disease: a critical appraisal of hepatic resection, cyst fenestration, and liver transplantation. Ann Surg, 2009, 250(1): 112-118.
29. Bernts LHP, Neijenhuis MK, Edwards ME, et al. Symptom relief and quality of life after combined partial hepatectomy and cyst fenestration in highly symptomatic polycystic liver disease. Surgery, 2020, 168(1): 25-32.
30. Kirchner GI, Rifai K, Cantz T, et al. Outcome and quality of life in patients with polycystic liver disease after liver or combined liver-kidney transplantation. Liver Transpl, 2006, 12(8): 1268-1277.
31. Masyuk TV, Masyuk AI, LaRusso NF. Therapeutic targets in polycystic liver disease. Curr Drug Targets, 2017, 18(8): 950-957.
32. Hogan MC, Masyuk TV, Page LJ, et al. Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease. J Am Soc Nephrol, 2010, 21(6): 1052-1061.
33. van Keimpema L, Nevens F, Vanslembrouck R, et al. Lanreotide reduces the volume of polycystic liver: a randomized, double-blind, placebo-controlled trial. Gastroenterology, 2009, 137(5): 1661-1668.
34. Hogan MC, Masyuk TV, Page L, et al. Somatostatin analog therapy for severe polycystic liver disease: results after 2 years. Nephrol Dial Transplant, 2012, 27(9): 3532-3539.
35. Griffiths J, Mills MT, Ong AC. Long-acting somatostatin analogue treatments in autosomal dominant polycystic kidney disease and polycystic liver disease: a systematic review and meta-analysis. BMJ Open, 2020, 10(1): e032620. doi: 10.1136/bmjopen-2019-032620.
36. Khan S, Dennison A, Garcea G. Medical therapy for polycystic liver disease. Ann R Coll Surg Engl, 2016, 98(1): 18-23.
37. Gevers TJ, Inthout J, Caroli A, et al. Young women with polycystic liver disease respond best to somatostatin analogues: a pooled analysis of individual patient data. Gastroenterology, 2013, 145(2): 357-365.
38. Aussilhou B, Dokmak S, Dondero F, et al. Treatment of polycystic liver disease. Update on the management. J Visc Surg, 2018, 155(6): 471-481.
39. Chrispijn M, Gevers TJ, Hol JC, et al. Everolimus does not further reduce polycystic liver volume when added to long acting octreotide: results from a randomized controlled trial. J Hepatol, 2013, 59(1): 153-159.
40. Deutschmann K, Reich M, Klindt C, et al. Bile acid receptors in the biliary tree: TGR5 in physiology and disease. Biochim Biophys Acta Mol Basis Dis, 2018, 1864(4 Pt B): 1319-1325.
41. Barten TRM, Bernts LHP, Drenth JPH, et al. New insights into targeting hepatic cystogenesis in autosomal dominant polycystic liver and kidney disease. Expert Opin Ther Targets, 2020, 24(6): 589-599.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Advances in diagnosis and treatment of polycystic liver disease

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