Polikistik Karaciğer Hastalığı
Özet
Polikistik karaciğer hastalığı (PKH), nadir görülen ve karaciğerde çok sayıda kist büyümesiyle karakterize genetik bir bozukluktur. Genellikle otozomal dominant polikistik böbrek hastalığı (OD-PKBH) ile birlikte seyretmekle birlikte, böbrek tutulumu olmaksızın izole PKH formunda da görülebilir. İzole PKH'nın toplumda görülme sıklığı %0.01'den az olup, embriyonik gelişim esnasındaki duktal plak malformasyonlarından kaynaklanır. Kadınlarda, östrojen hormonunun kist üretimini uyarıcı etkisi nedeniyle erkeklere oranla altı kat daha fazla ortaya çıkar. Hastaların yaklaşık %80'i asemptomatiktir ve kistler genellikle rutin abdominal ultrason (US) veya bilgisayarlı tomografi (BT) incelemelerinde tesadüfen saptanır. Semptomatik vakalarda ise büyüyen kistlerin çevre dokulara bası yapması sonucu karın ağrısı, distansiyon, nefes darlığı, erken doyma ve reflü gibi şikayetler gelişebilir. Hastalığın tanısında Reynolds ve Ravine kriterleri ile Gigot veya Qian sınıflamaları kullanılır. Asemptomatik hastalar için herhangi bir tedaviye gerek duyulmazken, semptomatik kişilerin tedavisindeki temel amaç karaciğer hacmini azaltarak yaşam kalitesini artırmaktır. Bu doğrultuda somatostatin analogları gibi medikal tedaviler, kist aspirasyonu ve skleroterapi, fenestrasyon, segmental rezeksiyon gibi cerrahi yöntemler veya son evrede ortotopik karaciğer nakli uygulanmaktadır.
Polycystic liver disease (PLD) is a rare genetic disorder characterized by the progressive development and enlargement of multiple cysts within the liver. While predominantly associated with autosomal dominant polycystic kidney disease (ADPKD), it can also manifest as an isolated form without renal involvement. Isolated PLD has a prevalence of less than 0.01% and arises from embryonic ductal plate malformations during bile duct development. Due to the stimulatory effect of estrogen on cyst growth, the disease is six times more prevalent in women than in men. Approximately 80% of patients remain entirely asymptomatic, with the condition frequently diagnosed incidentally through routine abdominal ultrasound (US) or computed tomography (CT) scans. In symptomatic individuals, the mass effect of expanding cysts causes abdominal distension, localized pain, dyspnea, early satiety, and acid reflux. Diagnostic evaluation relies on Reynolds and Ravine criteria, alongside Gigot or Qian staging systems. Asymptomatic cases require no therapeutic intervention, whereas management for symptomatic patients focuses strictly on reducing total liver volume to alleviate symptoms. Available therapeutic strategies encompass medical therapies like somatostatin analogues, aspiration-sclerotherapy, surgical fenestration, segmental hepatic resection, and ultimately, orthotopic liver transplantation for end-stage disease.
Referanslar
Onori P, Franchitto A, Mancinelli R, Carpino G, Alvaro D, Francis H, et al. Polycystic liver diseases. Dig Liver Dis. 2010 Apr. 42 (4):261-71.
Duca S, Cazacu M, Vlad L, et al. Nonparasitic abdominal serous cysts: multiple case report. Acta Chir Belg 1993; 93:18-24
Hoevenaren IA, Wester R, Schrier RW, McFann K, Doctor RB, Drenth JP, Everson GT. Polycystic liver: clinical characteristics of patients with isolated polycystic liver disease compared with patients with polycystic liver and autosomal dominant polycystic kidney disease. Liver Int. 2008; 28:264–270.
Bristowe F. Cystic disease of the liver associated with similar disease of the kidneys. Trans Pathol Soc Lond. 1856; 7:229–234.
Moschcowitz E. Non-parasitic cysts (congenital) of the liver, with a study of aberrant bile ducts. Am J Med Sci. 1906; 131:674–699
Feldman M. Polycystic disease of the liver. Am J Gastroenterol. 1958; 29:83–86.
Tahvanainen P, Tahvanainen E, Reijonen H, Halme L, Kääriäinen H, Höckerstedt K. Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish families. J Hepatol. 2003; 38:39–43.
Temmerman F, Missiaen L, Bammens B, Laleman W, Cassiman D, Verslype C, van Pelt J, Nevens F. Systematic review: the pathophysiology and management of polycystic liver disease. Aliment Pharmacol Ther. 2011; 34:702–713.
Qian Q. Isolated polycystic liver disease. Adv Chronic Kidney Dis. 2010; 17:181–189.
D’Agata ID, Jonas MM, Perez-Atayde AR, Guay-Woodford LM. Combined cystic disease of the liver and kidney. Semin Liver Dis. 1994; 14:215–228.
Masyuk TV, Masyuk AI, LaRusso NF. Therapeutic Targets in Polycystic Liver Disease. Curr Drug Targets. 2017;18(8):950-957
Cnossen WR, Drenth JP. Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. Orphanet J Rare Dis. 2014 May 01;9:69.
Harris RA, Gray DW, Britton BJ, Toogood GJ, Morris PJ. Hepatic cystic disease in an adult polycystic kidney disease transplant population. Aust N Z J Surg. 1996; 66:166–168.
Sherstha R, McKinley C, Russ P, Scherzinger A, Bronner T, Showalter R, Everson GT. Postmenopausal estrogen therapy selectively stimulates hepatic enlargement in women with autosomal dominant polycystic kidney disease. Hepatology. 1997; 26:1282–1286.
Drenth JP, Chrispijn M, Nagorney DM, Kamath PS, Torres VE. Medical and surgical treatment options for polycystic liver disease. Hepatology. 2010; 52:2223–2230.
Van Keimpema L, Nevens F, Vanslembrouck R, van Oijen MG, Hoffmann AL, Dekker HM, de Man RA, Drenth JP. Lanreotide reduces the volume of polycystic liver: a randomized, double-blind, placebo-controlled trial. Gastroenterology. 2009; 137:1661–8.e1-2.
Hogan MC, Masyuk TV, Page LJ, Kubly VJ, Bergstralh EJ, Li X, Kim B, King BF, Glockner J, Holmes DR, et al. Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease. J Am Soc Nephrol. 2010; 21:1052–1061.
Caroli A, Antiga L, Cafaro M, Fasolini G, Remuzzi A, Remuzzi G, Ruggenenti P. Reducing polycystic liver volume in ADPKD: effects of somatostatin analogue octreotide. Clin J Am Soc Nephrol. 2010; 5:783–789
Alvaro D, Mancino MG, Onori P, Franchitto A, Alpini G, Francis H, Glaser S, Gaudio E. Estrogens and the pathophysiology of the biliary tree. World J Gastroenterol. 2006; 12:3537–3545.
Katkhouda N, Mavor E, Gugenheim J, et al. Laparosocpic management of benign cystic lesions of the liver. J Hepatobiliary Pancreat Surg 2000; 7:212-7
Van Aerts RMM, van de Laarschot LFM, Banales JM, Drenth JPH. Clinical management of polycystic liver disease. J Hepatol. 2018 Apr;68(4):827-837.
Everson GT. Polycystic liver disease. Gastroenterol Hepatol (N Y). 2008 Mar;4(3):179-81
Ammori BJ, Jenkins BL, Lim PC, et al. Surgical strategy for cystic diseas of the liver in a western hepatobiliary center. World J Surg 2002; 26,462-9
Levine E, Cook LT, Grantham JJ. Liver cysts in autosomal-dominant polycystic kidney disease: clinical and computed tomographic study. AJR Am J Roentgenol. 1985; 145:229–233.
Nicolau C, Torra R, Bianchi L, Vilana R, Gilabert R, Darnell A, Brú C. Abdominal sonographic study of autosomal dominant polycystic kidney disease. J Clin Ultrasound. 2000; 28:277–282
Bae KT, Zhu F, Chapman AB, Torres VE, Grantham JJ, Guay-Woodford LM, Baumgarten DA, King BF, Wetzel LH, Kenney PJ, et al. Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort. Clin J Am Soc Nephrol. 2006; 1:64–69.
Vachha B, Sun MR, Siewert B, Eisenberg RL. Cystic lesions of the liver. AJR Am J Roentgenol. 2011; 196: W355–W366.
Gigot JF, Jadoul P, Que F, Van Beers BE, Etienne J, Horsmans Y, Collard A, Geubel A, Pringot J, Kestens PJ. Adult polycystic liver disease: is fenestration the most adequate operation for long-term management. Ann Surg. 1997; 225:286–294.
Hogan MC, Masyuk TV, Page LJ, Kubly VJ, Bergstralh EJ, Li X, Kim B, King BF, Glockner J, Holmes DR, et al. Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease. J Am Soc Nephrol. 2010; 21:1052–1061.
Shutsha E, Brenard R. Hepatic cyst rupture after a coughing fit. J Hepatol. 2003 Jun;38(6):870.
Everson GT, Helmke SM, Doctor B. Advances in management of polycystic liver disease. Expert Rev Gastroenterol Hepatol. 2008 Aug;2(4):563-76.
Everson GT. Polycystic liver disease. Gastroenterol Hepatol (N Y). 2008 Mar;4(3):179-81
Jiten P. Kothadia, Kyle Kreitman, Jamil M. Shah. Polycystic Liver Disease. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan. 2021 May 19.
van Keimpema L, de Koning DB, Strijk SP, Drenth JP. Aspiration-sclerotherapy results in effective control of liver volume in patients with liver cysts. Dig Dis Sci. 2008 Aug;53(8):2251-7.
Morino M, De Giuli M, Festa V, et al. Laparoscopic management of symptomatic nonparasitic cysts of the liver: indications and results. Ann Syrg 1994; 219:157-64
Schindl MJ, Redhead DN, Fearon KC, Garden OJ, Wigmore SJ., Edinburgh Liver Surgery and Transplantation Experimental Research Group (eLISTER). The value of residual liver volume as a predictor of hepatic dysfunction and infection after major liver resection. Gut. 2005 Feb;54(2):289-96.
