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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
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

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
Liver involvement in autosomal-dominant polycystic kidney disease: therapeutic dilemma.
Chauveau D, Fakhouri F, Grünfeld JP
J Am Soc Nephrol 2000 Sep;11(9):1767-1775. doi: 10.1681/ASN.V1191767. PMID: 10966503
Polycystic kidney disease.
Chester AC, Harris JP, Schreiner GE
Am Fam Physician 1977 Dec;16(6):94-101. PMID: 930806

Diagnosis

Nephronophthisis-associated ciliopathy with brachydactyly, medullary cysts, and chronic kidney disease.
Chen WLJ, Fung KFK, Chan EY
Kidney Int 2024 Oct;106(4):759. doi: 10.1016/j.kint.2024.04.022. PMID: 39304276
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
Zinner syndrome and infertility─a literature review based on a clinical case.
Hofmann A, Vauth F, Roesch WH
Int J Impot Res 2021 Mar;33(2):191-195. Epub 2020 Nov 5 doi: 10.1038/s41443-020-00360-0. PMID: 33149231Free PMC Article
Lithium-Induced Nephropathy.
Pawar AS, Kattah AG
N Engl J Med 2018 Mar 15;378(11):1042. doi: 10.1056/NEJMicm1709438. PMID: 29539276
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
What the similarities of specific polycystic liver and kidney diseases can teach us about both.
Hogan MC, Torres VE
Nephrol News Issues 2008 Aug;22(9):29-31. PMID: 18778002

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

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
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

Recent systematic reviews

Clinical features and outcomes of male patients with lymphangioleiomyomatosis: A review.
Zhang H, Hu Z, Wang S, Wu K, Yang Q, Song X
Medicine (Baltimore) 2022 Dec 30;101(52):e32492. doi: 10.1097/MD.0000000000032492. PMID: 36596036Free PMC Article
Association of Abdominal Aortic Aneurysm and Simple Renal Cysts: A Systematic Review and Meta-Analysis.
Giannopoulos S, Kokkinidis DG, Avgerinos ED, Armstrong EJ
Ann Vasc Surg 2021 Jul;74:450-459. Epub 2021 Feb 5 doi: 10.1016/j.avsg.2021.01.075. PMID: 33556506
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

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