U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Show allHide all

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
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
Birt-Hogg-Dubé syndrome: diagnosis and management.
Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER; European BHD Consortium
Lancet Oncol 2009 Dec;10(12):1199-206. doi: 10.1016/S1470-2045(09)70188-3. PMID: 19959076

Recent clinical studies

Etiology

Genetics, pathobiology and therapeutic opportunities of polycystic liver disease.
Olaizola P, Rodrigues PM, Caballero-Camino FJ, Izquierdo-Sanchez L, Aspichueta P, Bujanda L, Larusso NF, Drenth JPH, Perugorria MJ, Banales JM
Nat Rev Gastroenterol Hepatol 2022 Sep;19(9):585-604. Epub 2022 May 13 doi: 10.1038/s41575-022-00617-7. PMID: 35562534
Polycystic Liver Disease: Advances in Understanding and Treatment.
Masyuk TV, Masyuk AI, LaRusso NF
Annu Rev Pathol 2022 Jan 24;17:251-269. Epub 2021 Nov 1 doi: 10.1146/annurev-pathol-042320-121247. PMID: 34724412Free 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

Diagnosis

Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management.
Hanna C, Iliuta IA, Besse W, Mekahli D, Chebib FT
Semin Nephrol 2023 Jul;43(4):151434. Epub 2023 Nov 22 doi: 10.1016/j.semnephrol.2023.151434. PMID: 37996359
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
Renal microcysts and lithium.
Khan M, El-Mallakh RS
Int J Psychiatry Med 2015;50(3):290-8. Epub 2015 Oct 12 doi: 10.1177/0091217415610309. PMID: 26459462
Diagnosis and management of polycystic liver disease.
Gevers TJ, Drenth JP
Nat Rev Gastroenterol Hepatol 2013 Feb;10(2):101-8. Epub 2013 Jan 8 doi: 10.1038/nrgastro.2012.254. PMID: 23296249

Therapy

Pharmacologic Management of Autosomal Dominant Polycystic Kidney Disease.
Ackley W, Dahl NK, Park M
Adv Kidney Dis Health 2023 May;30(3):228-235. doi: 10.1053/j.akdh.2023.02.002. PMID: 37088525
Causal relationship between polycystic ovary syndrome and chronic kidney disease: A Mendelian randomization study.
Du Y, Li F, Li S, Ding L, Liu M
Front Endocrinol (Lausanne) 2023;14:1120119. Epub 2023 Mar 15 doi: 10.3389/fendo.2023.1120119. PMID: 37008943Free PMC Article
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
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

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

Autosomal Dominant Polycystic Kidney Disease: Is There a Role for Autophagy?
Ponticelli C, Moroni G, Reggiani F
Int J Mol Sci 2023 Sep 28;24(19) doi: 10.3390/ijms241914666. PMID: 37834113Free PMC Article
The cellular pathways and potential therapeutics of Polycystic Kidney Disease.
Richards T, Modarage K, Malik SA, Goggolidou P
Biochem Soc Trans 2021 Jun 30;49(3):1171-1188. doi: 10.1042/BST20200757. PMID: 34156429
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
Ultrasound and color Doppler applications in chronic kidney disease.
Petrucci I, Clementi A, Sessa C, Torrisi I, Meola M
J Nephrol 2018 Dec;31(6):863-879. Epub 2018 Sep 6 doi: 10.1007/s40620-018-0531-1. PMID: 30191413
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

Anatomical variations, treatment and outcomes of Herlyn-Werner-Wunderlich syndrome: a literature review of 1673 cases.
Liu Y, Li Z, Dou Y, Wang J, Li Y
Arch Gynecol Obstet 2023 Nov;308(5):1409-1417. Epub 2023 Feb 24 doi: 10.1007/s00404-022-06856-y. PMID: 36823415
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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...