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Polycystic liver disease 3 with or without kidney cysts(PCLD3)

MedGen UID:
1646969
Concept ID:
C4693472
Disease or Syndrome
Synonyms: PCLD3; POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS
 
Gene (location): ALG8 (11q14.1)
 
Monarch Initiative: MONDO:0054743
OMIM®: 617874

Definition

PCLD3 is an autosomal dominant disorder characterized by the development of multiple liver cysts that usually becomes apparent in adulthood. Liver cysts range in size and number, and the clinical severity is variable. Most patients also have a few renal cysts, but they do not result in significant renal disease or renal failure (summary by Besse et al., 2017). For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (174050). [from OMIM]

Clinical features

From HPO
Renal cyst
MedGen UID:
854361
Concept ID:
C3887499
Disease or Syndrome
A fluid filled sac in the kidney.
Hepatic cysts
MedGen UID:
82761
Concept ID:
C0267834
Disease or Syndrome
A cystic lesion located in the liver.

Professional guidelines

PubMed

Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942Free PMC Article
Reiterová J, Tesař V
Int J Mol Sci 2022 Mar 19;23(6) doi: 10.3390/ijms23063317. PMID: 35328738Free PMC Article
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F
Clin J Am Soc Nephrol 2022 Jan;17(1):143-154. Epub 2021 Dec 20 doi: 10.2215/CJN.04230321. PMID: 34930753Free PMC Article

Recent clinical studies

Etiology

Waddell SH, Yao Y, Olaizola P, Walker A, Jarman EJ, Gournopanos K, Gradinaru A, Christodoulou E, Gautier P, Boerrigter MM, Cadamuro M, Fabris L, Drenth JP, Kendall TJ, Banales JM, Khamseh A, Mill P, Boulter L
Sci Transl Med 2023 Sep 13;15(713):eabq5930. doi: 10.1126/scitranslmed.abq5930. PMID: 37703354Free PMC Article
Cornec-Le Gall E, Alam A, Perrone RD
Lancet 2019 Mar 2;393(10174):919-935. Epub 2019 Feb 25 doi: 10.1016/S0140-6736(18)32782-X. PMID: 30819518
Cornec-Le Gall E, Torres VE, Harris PC
J Am Soc Nephrol 2018 Jan;29(1):13-23. Epub 2017 Oct 16 doi: 10.1681/ASN.2017050483. PMID: 29038287Free PMC Article
Hommos MS, Glassock RJ, Rule AD
J Am Soc Nephrol 2017 Oct;28(10):2838-2844. Epub 2017 Aug 8 doi: 10.1681/ASN.2017040421. PMID: 28790143Free PMC Article
Masyuk TV, Masyuk AI, LaRusso NF
Curr Drug Targets 2017;18(8):950-957. doi: 10.2174/1389450116666150427161743. PMID: 25915482Free PMC Article

Diagnosis

Muto Y, Dixon EE, Yoshimura Y, Wu H, Omachi K, Ledru N, Wilson PC, King AJ, Eric Olson N, Gunawan MG, Kuo JJ, Cox JH, Miner JH, Seliger SL, Woodward OM, Welling PA, Watnick TJ, Humphreys BD
Nat Commun 2022 Oct 30;13(1):6497. doi: 10.1038/s41467-022-34255-z. PMID: 36310237Free PMC Article
Cornec-Le Gall E, Alam A, Perrone RD
Lancet 2019 Mar 2;393(10174):919-935. Epub 2019 Feb 25 doi: 10.1016/S0140-6736(18)32782-X. PMID: 30819518
van Aerts RMM, van de Laarschot LFM, Banales JM, Drenth JPH
J Hepatol 2018 Apr;68(4):827-837. Epub 2017 Nov 24 doi: 10.1016/j.jhep.2017.11.024. PMID: 29175241
Khan M, El-Mallakh RS
Int J Psychiatry Med 2015;50(3):290-8. Epub 2015 Oct 12 doi: 10.1177/0091217415610309. PMID: 26459462
Chester AC, Harris JP, Schreiner GE
Am Fam Physician 1977 Dec;16(6):94-101. PMID: 930806

Therapy

Nowak KL, Hopp K
Clin J Am Soc Nephrol 2020 Apr 7;15(4):577-584. Epub 2020 Feb 21 doi: 10.2215/CJN.13291019. PMID: 32086281Free PMC Article
Gaur P, Gedroyc W, Hill P
Br J Radiol 2019 Jun;92(1098):20190078. Epub 2019 Apr 30 doi: 10.1259/bjr.20190078. PMID: 31039325Free PMC Article
Cornec-Le Gall E, Alam A, Perrone RD
Lancet 2019 Mar 2;393(10174):919-935. Epub 2019 Feb 25 doi: 10.1016/S0140-6736(18)32782-X. PMID: 30819518
Masyuk TV, Masyuk AI, LaRusso NF
Curr Drug Targets 2017;18(8):950-957. doi: 10.2174/1389450116666150427161743. PMID: 25915482Free PMC Article
Khan S, Dennison A, Garcea G
Ann R Coll Surg Engl 2016 Jan;98(1):18-23. doi: 10.1308/rcsann.2016.0023. PMID: 26688394Free PMC Article

Prognosis

Roediger R, Dieterich D, Chanumolu P, Deshpande P
Clin Liver Dis 2022 May;26(2):229-243. Epub 2022 Apr 1 doi: 10.1016/j.cld.2022.01.009. PMID: 35487607
Chebib FT, Torres VE
Am J Kidney Dis 2021 Aug;78(2):282-292. Epub 2021 Mar 8 doi: 10.1053/j.ajkd.2020.12.020. PMID: 33705818
Cornec-Le Gall E, Alam A, Perrone RD
Lancet 2019 Mar 2;393(10174):919-935. Epub 2019 Feb 25 doi: 10.1016/S0140-6736(18)32782-X. PMID: 30819518
Cornec-Le Gall E, Torres VE, Harris PC
J Am Soc Nephrol 2018 Jan;29(1):13-23. Epub 2017 Oct 16 doi: 10.1681/ASN.2017050483. PMID: 29038287Free PMC Article
Winyard P, Chitty LS
Semin Fetal Neonatal Med 2008 Jun;13(3):142-51. Epub 2007 Dec 11 doi: 10.1016/j.siny.2007.10.009. PMID: 18065301

Clinical prediction guides

Ponticelli C, Moroni G, Reggiani F
Int J Mol Sci 2023 Sep 28;24(19) doi: 10.3390/ijms241914666. PMID: 37834113Free PMC Article
Xue C, Mei CL
Adv Exp Med Biol 2019;1165:81-100. doi: 10.1007/978-981-13-8871-2_5. PMID: 31399962
Khan S, Dennison A, Garcea G
Ann R Coll Surg Engl 2016 Jan;98(1):18-23. doi: 10.1308/rcsann.2016.0023. PMID: 26688394Free PMC Article
Khan M, El-Mallakh RS
Int J Psychiatry Med 2015;50(3):290-8. Epub 2015 Oct 12 doi: 10.1177/0091217415610309. PMID: 26459462
Winyard P, Chitty LS
Semin Fetal Neonatal Med 2008 Jun;13(3):142-51. Epub 2007 Dec 11 doi: 10.1016/j.siny.2007.10.009. PMID: 18065301

Recent systematic reviews

Outmani L, IJzermans JNM, Minnee RC
Transplant Rev (Orlando) 2020 Oct;34(4):100564. Epub 2020 Jun 27 doi: 10.1016/j.trre.2020.100564. PMID: 32624245
Wijnands TF, Görtjes AP, Gevers TJ, Jenniskens SF, Kool LJ, Potthoff A, Ronot M, Drenth JP
AJR Am J Roentgenol 2017 Jan;208(1):201-207. Epub 2016 Nov 8 doi: 10.2214/AJR.16.16130. PMID: 27824501
Leombroni M, Buca D, Celentano C, Liberati M, Bascietto F, Gustapane S, Marrone L, Manzoli L, Rizzo G, D'Antonio F
Ultrasound Obstet Gynecol 2017 Aug;50(2):167-174. Epub 2017 Jul 9 doi: 10.1002/uog.17244. PMID: 27553859
Santoro D, Pellicanò V, Visconti L, Trifirò G, Buemi M, Cernaro V
Expert Opin Investig Drugs 2015;24(9):1199-218. Epub 2015 Jun 30 doi: 10.1517/13543784.2015.1059421. PMID: 26125126
Bailey MA, Griffin KJ, Windle AL, Lines SW, Scott DJ
Ann Vasc Surg 2013 Jan;27(1):123-8. Epub 2012 Oct 23 doi: 10.1016/j.avsg.2012.05.013. PMID: 23088808

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