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Polycystic liver disease 4 with or without kidney cysts(PCLD4)

MedGen UID:
1644991
•Concept ID:
C4693479
•
Disease or Syndrome
Synonyms: PCLD4; POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS
 
Gene (location): LRP5 (11q13.2)
 
Monarch Initiative: MONDO:0044327
OMIM®: 617875

Definition

PCLD4 is an autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure (summary by Cnossen et al., 2014). 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.
See: Feature record | Search on this feature
Hepatic cysts
MedGen UID:
82761
•Concept ID:
C0267834
•
Disease or Syndrome
A cystic lesion located in the liver.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Joubert syndrome: Molecular basis and treatment.
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
EASL Clinical Practice Guidelines on the management of cystic liver diseases.
European Association for the Study of the Liver. Electronic address: [email protected]; 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
Guidelines for Genetic Testing and Management of Alport Syndrome.
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

A TGFβ-ECM-integrin signaling axis drives structural reconfiguration of the bile duct to promote polycystic liver disease.
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
Autosomal dominant polycystic kidney disease.
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
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
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
Structural and Functional Changes in Human Kidneys with Healthy Aging.
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
Dysplastic kidneys.
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

Diagnosis

Defining cellular complexity in human autosomal dominant polycystic kidney disease by multimodal single cell analysis.
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
Clinical management of polycystic liver disease.
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
Polycystic liver disease.
Leão RN, Salustio R, Ribeiro JV
BMJ Case Rep 2014 Jan 17;2014 doi: 10.1136/bcr-2013-202003. PMID: 24443335Free PMC Article
Polycystic liver and kidney diseases.
Tahvanainen E, Tahvanainen P, Kääriäinen H, Höckerstedt K
Ann Med 2005;37(8):546-55. doi: 10.1080/07853890500389181. PMID: 16338757
Polycystic kidney disease.
Chester AC, Harris JP, Schreiner GE
Am Fam Physician 1977 Dec;16(6):94-101. PMID: 930806

Therapy

Metabolic Reprogramming in Autosomal Dominant Polycystic Kidney Disease: Evidence and Therapeutic Potential.
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
ADPKD-what the radiologist should know.
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
Autosomal dominant polycystic kidney disease.
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
Therapeutic Targets in Polycystic Liver Disease.
Masyuk TV, Masyuk AI, LaRusso NF
Curr Drug Targets 2017;18(8):950-957. doi: 10.2174/1389450116666150427161743. PMID: 25915482Free PMC Article
Medical therapy for polycystic liver disease.
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

Polycystic Kidney/Liver Disease.
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
Assessing Risk of Rapid Progression in Autosomal Dominant Polycystic Kidney Disease and Special Considerations for Disease-Modifying Therapy.
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
Autosomal dominant polycystic kidney disease.
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
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
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
Dysplastic kidneys.
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

Polycystic Kidney Disease and Renal Fibrosis.
Xue C, Mei CL
Adv Exp Med Biol 2019;1165:81-100. doi: 10.1007/978-981-13-8871-2_5. PMID: 31399962
Recent advances in the clinical management of autosomal dominant polycystic kidney disease.
Torra R
F1000Res 2019;8 Epub 2019 Jan 29 doi: 10.12688/f1000research.17109.1. PMID: 30755792Free PMC Article
Medical therapy for polycystic liver disease.
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
Molecular pathways and therapies in autosomal-dominant polycystic kidney disease.
Saigusa T, Bell PD
Physiology (Bethesda) 2015 May;30(3):195-207. doi: 10.1152/physiol.00032.2014. PMID: 25933820Free PMC Article
Dysplastic kidneys.
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

Surgical learning curve in kidney transplantation: A systematic review and meta-analysis.
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
Efficacy and Safety of Aspiration Sclerotherapy of Simple Hepatic Cysts: A Systematic Review.
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
Outcomes associated with fetal hepatobiliary cysts: systematic review and meta-analysis.
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
An overview of experimental and early investigational therapies for the treatment of polycystic kidney disease.
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
Cysts and swellings: a systematic review of the association between polycystic kidney disease and abdominal aortic aneurysm.
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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