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Cystic liver disease

MedGen UID:
1643791
Concept ID:
C4551631
Disease or Syndrome
HPO: HP:0006706

Conditions with this feature

Meckel syndrome, type 6
MedGen UID:
382942
Concept ID:
C2676790
Disease or Syndrome
Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.\n\nOther signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia.\n\nMeckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver.

Professional guidelines

PubMed

European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2022 Oct;77(4):1083-1108. Epub 2022 Jun 18 doi: 10.1016/j.jhep.2022.06.002. PMID: 35728731
Sobesky R, Guillaud O, Bouzbib C, Sogni P, Poujois A, Woimant F, Duclos-Vallée JC, Bourlière M, de Lédinghen V, Ganne-Carrié N, Bureau C
Clin Res Hepatol Gastroenterol 2022 Jan;46(1):101768. Epub 2021 Jul 29 doi: 10.1016/j.clinre.2021.101768. PMID: 34332127
Chapman AB
Adv Ren Replace Ther 2003 Jan;10(1):24-30. doi: 10.1053/jarr.2003.50005. PMID: 12616460

Recent clinical studies

Etiology

Lee SS, Byoun YS, Jeong SH, Kim YM, Gil H, Min BY, Seong MH, Jang ES, Kim JW
Clin Mol Hepatol 2012 Sep;18(3):309-15. Epub 2012 Sep 25 doi: 10.3350/cmh.2012.18.3.309. PMID: 23091812Free PMC Article
Tabain I, Sviben M, Ljubin-Sternak S, Vilibić-Čavlek T, Mlinarić-Galinović G
J Helminthol 2011 Jun;85(2):192-5. Epub 2010 Aug 25 doi: 10.1017/S0022149X1000043X. PMID: 20735896
Henne-Bruns D, Klomp HJ, Kremer B
Hepatogastroenterology 1993 Feb;40(1):1-5. PMID: 8462920
Sanchez H, Gagner M, Rossi RL, Jenkins RL, Lewis WD, Munson JL, Braasch JW
Am J Surg 1991 Jan;161(1):113-8; discussion 118-9. doi: 10.1016/0002-9610(91)90370-s. PMID: 1987844
Levine E, Cook LT, Grantham JJ
AJR Am J Roentgenol 1985 Aug;145(2):229-33. doi: 10.2214/ajr.145.2.229. PMID: 3875218

Diagnosis

Yang C, Harafuji N, Caldovic L, Yu W, Boddu R, Bhattacharya S, Barseghyan H, Gordish-Dressman H, Foreman O, Bebok Z, Eicher EM, Guay-Woodford LM
J Mol Med (Berl) 2023 Sep;101(9):1141-1151. Epub 2023 Aug 16 doi: 10.1007/s00109-023-02351-2. PMID: 37584738Free PMC Article
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2022 Oct;77(4):1083-1108. Epub 2022 Jun 18 doi: 10.1016/j.jhep.2022.06.002. PMID: 35728731
Lantinga MA, Gevers TJ, Drenth JP
World J Gastroenterol 2013 Jun 21;19(23):3543-54. doi: 10.3748/wjg.v19.i23.3543. PMID: 23801855Free PMC Article
Lee SS, Byoun YS, Jeong SH, Kim YM, Gil H, Min BY, Seong MH, Jang ES, Kim JW
Clin Mol Hepatol 2012 Sep;18(3):309-15. Epub 2012 Sep 25 doi: 10.3350/cmh.2012.18.3.309. PMID: 23091812Free PMC Article
Sanchez H, Gagner M, Rossi RL, Jenkins RL, Lewis WD, Munson JL, Braasch JW
Am J Surg 1991 Jan;161(1):113-8; discussion 118-9. doi: 10.1016/0002-9610(91)90370-s. PMID: 1987844

Therapy

Lee SS, Byoun YS, Jeong SH, Kim YM, Gil H, Min BY, Seong MH, Jang ES, Kim JW
Clin Mol Hepatol 2012 Sep;18(3):309-15. Epub 2012 Sep 25 doi: 10.3350/cmh.2012.18.3.309. PMID: 23091812Free PMC Article
Purvis JR, Ginaldi S, Casimiro J, Scott J
J Fam Pract 1996 Dec;43(6):577-80. PMID: 8969706
Henne-Bruns D, Klomp HJ, Kremer B
Hepatogastroenterology 1993 Feb;40(1):1-5. PMID: 8462920

Prognosis

Kong XF, Bogyo K, Kapoor S, Shea PR, Groopman EE, Thomas-Wilson A, Cocchi E, Milo Rasouly H, Zheng B, Sun S, Zhang J, Martinez M, Vittorio JM, Dove LM, Marasa M, Wang TC, Verna EC, Worman HJ, Gharavi AG, Goldstein DB, Wattacheril J
Sci Rep 2023 Dec 6;13(1):21540. doi: 10.1038/s41598-023-42202-1. PMID: 38057357Free PMC Article
Yang C, Harafuji N, Caldovic L, Yu W, Boddu R, Bhattacharya S, Barseghyan H, Gordish-Dressman H, Foreman O, Bebok Z, Eicher EM, Guay-Woodford LM
J Mol Med (Berl) 2023 Sep;101(9):1141-1151. Epub 2023 Aug 16 doi: 10.1007/s00109-023-02351-2. PMID: 37584738Free PMC Article
Lantinga MA, Gevers TJ, Drenth JP
World J Gastroenterol 2013 Jun 21;19(23):3543-54. doi: 10.3748/wjg.v19.i23.3543. PMID: 23801855Free PMC Article
Popescu I, Tomulescu V, Hrehoret D, Boeti-Sarbu P, Stanciulea O, Kosa A
Rom J Gastroenterol 2005 Dec;14(4):343-9. PMID: 16400349
Gigot JF, Legrand M, Hubens G, de Canniere L, Wibin E, Deweer F, Druart ML, Bertrand C, Devriendt H, Droissart R, Tugilimana M, Hauters P, Vereecken L
World J Surg 1996 Jun;20(5):556-61. doi: 10.1007/s002689900086. PMID: 8661625

Clinical prediction guides

Kong XF, Bogyo K, Kapoor S, Shea PR, Groopman EE, Thomas-Wilson A, Cocchi E, Milo Rasouly H, Zheng B, Sun S, Zhang J, Martinez M, Vittorio JM, Dove LM, Marasa M, Wang TC, Verna EC, Worman HJ, Gharavi AG, Goldstein DB, Wattacheril J
Sci Rep 2023 Dec 6;13(1):21540. doi: 10.1038/s41598-023-42202-1. PMID: 38057357Free PMC Article
Yang C, Harafuji N, Caldovic L, Yu W, Boddu R, Bhattacharya S, Barseghyan H, Gordish-Dressman H, Foreman O, Bebok Z, Eicher EM, Guay-Woodford LM
J Mol Med (Berl) 2023 Sep;101(9):1141-1151. Epub 2023 Aug 16 doi: 10.1007/s00109-023-02351-2. PMID: 37584738Free PMC Article
Bienaimé F, Ambolet A, Aussilhou B, Brazier F, Fouchard M, Viau A, Barre P, Tissier AM, Correas JM, Paradis V, Terzi F, Friedlander G, Knebelmann B, Joly D, Prié D
J Clin Endocrinol Metab 2018 Jun 1;103(6):2319-2328. doi: 10.1210/jc.2018-00123. PMID: 29618028
Lantinga MA, Gevers TJ, Drenth JP
World J Gastroenterol 2013 Jun 21;19(23):3543-54. doi: 10.3748/wjg.v19.i23.3543. PMID: 23801855Free PMC Article
Gigot JF, Legrand M, Hubens G, de Canniere L, Wibin E, Deweer F, Druart ML, Bertrand C, Devriendt H, Droissart R, Tugilimana M, Hauters P, Vereecken L
World J Surg 1996 Jun;20(5):556-61. doi: 10.1007/s002689900086. PMID: 8661625

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