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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.
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
Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment.
Reiterová J, Tesař V
Int J Mol Sci 2022 Mar 19;23(6) doi: 10.3390/ijms23063317. PMID: 35328738Free 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

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
Polycystic kidney disease.
Chester AC, Harris JP, Schreiner GE
Am Fam Physician 1977 Dec;16(6):94-101. PMID: 930806

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
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
Lithium-Induced Nephropathy.
Pawar AS, Kattah AG
N Engl J Med 2018 Mar 15;378(11):1042. doi: 10.1056/NEJMicm1709438. PMID: 29539276
Intrarenal epidermoid cyst.
Duprat G Jr, Filiatrault D, Michaud J
Pediatr Radiol 1986;16(1):73-5. doi: 10.1007/BF02387515. PMID: 3945507
Polycystic kidney disease.
Chester AC, Harris JP, Schreiner GE
Am Fam Physician 1977 Dec;16(6):94-101. PMID: 930806

Therapy

Renal dysfunction after liver transplantation for polycystic liver disease.
Nayagam JS, Nawaz A, Ramos K, Cramp ME, Shaw C, Shah S, Joshi D, Heaton N, Suddle A
Liver Transpl 2022 Oct;28(10):1674-1677. Epub 2022 Jun 20 doi: 10.1002/lt.26516. PMID: 35633077
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
Lithium-Induced Nephropathy.
Pawar AS, Kattah AG
N Engl J Med 2018 Mar 15;378(11):1042. doi: 10.1056/NEJMicm1709438. PMID: 29539276
Lymphocele after renal transplantation, a medical complication.
Minetti EE
J Nephrol 2011 Nov-Dec;24(6):707-16. doi: 10.5301/jn.5000004. PMID: 21748721

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
Clinical Scenarios in Chronic Kidney Disease: Cystic Renal Diseases.
Meola M, Samoni S, Petrucci I
Contrib Nephrol 2016;188:120-30. Epub 2016 May 12 doi: 10.1159/000445474. PMID: 27169740

Clinical prediction guides

Gastric duplication cyst with peristalsis.
Li L, Li J, Sun H
Rev Esp Enferm Dig 2023 Jun;115(6):350-351. doi: 10.17235/reed.2023.9721/2023. PMID: 37232158
Reporting on Renal Masses, Recommendations for Terminology, and Sample Templates.
Balthazar P, Joshi H, Heilbrun ME
Radiol Clin North Am 2020 Sep;58(5):925-933. Epub 2020 Jul 16 doi: 10.1016/j.rcl.2020.06.003. PMID: 32792124
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
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
The neonate with an abdominal mass.
Chandler JC, Gauderer MW
Pediatr Clin North Am 2004 Aug;51(4):979-97, ix. doi: 10.1016/j.pcl.2004.03.014. PMID: 15275984

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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