ADPLD Articles: Liver Cysts Only
Somatic second-hit mutations leads to polycystic liver disease
We discuss the knowledge regarding the role of somatic second-hit mutations in the development of Polycystic Liver Disease; the most relevant findings have been highlighted.
Banales JM, Munoz-Garrido P, Bujanda L.
World J Gastroenterol 2013 Jan 7;19(1):141-3 doi: 10.3748/wjg.v19.i1.141
Somatostatin analog therapy for severe polycystic liver disease: results after 2 years.
Hogan MC, Masyuk TV, Page L, Holmes DR 3rd, Li X, Bergstralh EJ, Irazabal MV, Kim B, King BF, Glockner JF, Larusso NF, Torres VE.
Nephrol Dial Transplant. 2012 Jul 6. [Epub ahead of print]
Department of Internal Medicine, Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation.
Hum Mol Genet. 2010 Jan 1;19(1):16-24.
Gao H, Wang Y, Wegierski T, Skouloudaki K, Pütz M, Fu X, Engel C, Boehlke C, Peng H, Kuehn EW, Kim E, Kramer-Zucker A, Walz G.
Renal Division, University Hospital Freiburg, Freiburg, Germany
Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.
Clin Genet. 2010 Jul;78(1):47-56. Epub 2010 Jan 20.
Waanders E, Venselaar H, te Morsche RH, de Koning DB, Kamath PS, Torres VE, Somlo S, Drenth JP.
Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Isolated polycystic liver disease.
Adv Chronic Kidney Dis. 2010 Mar;17(2):181-9.
Qian Q.
Mayo Clinic College of Medicine, Rochester, MN 55905, USA. qian.qi@mayo.edu
Yang AM, Shih SC, Chu CH, Wang TE, Yang WS
PRKCSH genetic mutation was not found in Taiwanese patients with polycystic liver disease.
Conclusion:PRKCSH gene is not a major genetic cause of PCLD in Taiwan
Dig Dis Sci. 2010 Mar;55(3):815-9. Epub 2009 Mar 24.
Division of Gastroenterology, Department of Internal Medicine, En Chu Kong Hospital, Taipei county, Taiwan.
Treatment of polycystic liver disease with resection-fenestration and a new classification.
World J Gastroenterol. 2008 Aug 28;14(32):5066-72.
Li TJ, Zhang HB, Lu JH, Zhao J, Yang N, Yang GS.
Eastern Hepato-biliary Hospital, Second Military Medical University, Shanghai, China.
Isolated polycystic liver disease--a rare entity: report of a case.
Malur PR, Bannur HB, Sant AN, Mastiholimath RD.
Department of Pathology, J.N. Medical College, Belgaum, Karnataka.
Surgical management of polycystic liver disease.
World J Gastroenterol. 2007 Oct 14;13(38):5052-9.
Russell RT, Pinson CW.
Vanderbilt University Medical Center, Department of Hepatobiliary Surgery and Liver Transplantation, 1301 22nd Avenue South, Nashville, TN 37232-5545, United States
Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation.
World J Gastroenterol. 2005 Dec 28;11(48):7690-3.
Peces R, Drenth JP, Te Morsche RH, González P, Peces C.
Servicio de Nefrologia, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain. cpeces@varnet.com
Clinical profile of autosomal dominant polycystic liver disease.
Hepatology. 2003 Jan;37(1):164-71.
Qian Q, Li A, King BF, Kamath PS, Lager DJ, Huston J 3rd, Shub C, Davila S, Somlo S, Torres VE.
Division of Nephrology, Mayo Clinic, Rochester, MN, USA.
Identification of a Locus for Autosomal Dominant Polycystic Liver Disease
Am J Hum Genet. Dec 2000; 67(6): 1598?1604.
Published online Oct 23, 2000. doi: 10.1086/316904
David M. Reynolds, Cathy T. Falk, Airong Li, Bernard F. King,5 Patrick S. Kamath, John Huston III, Clarence Shub,
Diana M. Iglesias, Rodolfo S. Martin, Yves Pirson, Vicente E. Torres, and Stefan Somlo
Departments of Medicine and Molecular Genetics, Albert Einstein College of Medicine, Bronx;
Lindsley F. Kimball Research Institute, New York Blood Center, New York; Departments of Internal Medicine and Genetics,
Yale University School of Medicine, New Haven; Departments of Radiology and Internal Medicine, Mayo Clinic and
Mayo Foundation, Rochester, MN; Universidad de Buenos Aires, Buenos Aires; and Cliniques Unniversitaires St. Luc, Brussels
Estrogen Severe PLD
Only 8% of people with PLD will go on to develop severe PLD. At the Mayo following the first ten cases they had performed for a PLD liver resection, a follow up visit for this patient was the very first time Mayo doctors discovered that PLD was activated by hormones.
A woman with severe PLD wanted to wear a waisted dress for her wedding. She had a repeat MRI following her pregnancy birth. Her liver had grown. Researchers have long discovered that liver cysts have estrogen receptors within their cell walls.
Article
". . .estrogen can promote liver cyst growth via multiple mechanisms."
Article
". . .risk of having massive polycystic liver disease is related to female gender,
pregnancy, and exposure to exogenous sources of female steroid hormones such as contraceptive
steroids or use of female hormone replacement therapy by postmenopausal women."
76% of individuals with ADPLD have the second hit present. For PLD individuals the second hit is
active and plays an important role in liver cyst growth. It is for this reason that among the items
to be avoided include exposure to hormone disruptors such as bleach, pesticides, herbicides,
chemicals xenoestrogens.
Article
"1 year of estrogen use in postmenopausal ADPKD patients selectively
increases total liver volume by 7%, whereas total kidney volume remains unaffected."
Article
"Female sex,estrogen use and multiple pregnancies are risk factors polycystic liver growth."
Many doctors when they see a woman in her 30's with severe PLD recommend
she seek alternatives to pregnancy as the hormones of pregnancy can promote PLD liver growth.