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Polycystic kidney disease 5(PKD5)

MedGen UID:
1624679
•Concept ID:
C4539903
•
Disease or Syndrome
Synonyms: PKD5; POLYCYSTIC KIDNEY DISEASE 5
 
Gene (location): DZIP1L (3q22.3)
 
Monarch Initiative: MONDO:0033281
OMIM®: 617610

Definition

PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterized by early childhood onset of progressive renal dysfunction associated with enlarged hyperechogenic kidneys that often results in end-stage renal disease in the second or third decade of life. Arterial hypertension is apparent in early childhood (summary by Lu et al., 2017). For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900). [from OMIM]

Clinical features

From HPO
Polycystic kidney disease
MedGen UID:
9639
•Concept ID:
C0022680
•
Disease or Syndrome
The presence of multiple cysts in both kidneys.
See: Feature record | Search on this feature
Enlarged kidney
MedGen UID:
108156
•Concept ID:
C0542518
•
Finding
An abnormal increase in the size of the kidney.
See: Feature record | Search on this feature
Stage 5 chronic kidney disease
MedGen UID:
384526
•Concept ID:
C2316810
•
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
See: Feature record | Search on this feature
Hyperechogenic kidneys
MedGen UID:
477530
•Concept ID:
C3275899
•
Finding
An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.
See: Feature record | Search on this feature
Reduced renal corticomedullary differentiation
MedGen UID:
813461
•Concept ID:
C3807131
•
Finding
Reduced differentiation between renal cortex and medulla on diagnostic imaging.
See: Feature record | Search on this feature
Hypertensive disorder
MedGen UID:
6969
•Concept ID:
C0020538
•
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
See: Feature record | Search on this feature
Hepatosplenomegaly
MedGen UID:
9225
•Concept ID:
C0019214
•
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases.
Chen HL, Wu SH, Hsu SH, Liou BY, Chen HL, Chang MH
J Biomed Sci 2018 Oct 26;25(1):75. doi: 10.1186/s12929-018-0475-8. PMID: 30367658Free PMC Article
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.
Hwang YH, Conklin J, Chan W, Roslin NM, Liu J, He N, Wang K, Sundsbak JL, Heyer CM, Haider M, Paterson AD, Harris PC, Pei Y
J Am Soc Nephrol 2016 Jun;27(6):1861-8. Epub 2015 Oct 9 doi: 10.1681/ASN.2015060648. PMID: 26453610Free PMC Article
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
Denamur E, Delezoide AL, Alberti C, Bourillon A, Gubler MC, Bouvier R, Pascaud O, Elion J, Grandchamp B, Michel-Calemard L, Missy P, Zaccaria I, Le Nagard H, Gerard B, Loirat C; Société Française de Foetopathologie, Barbet J, Beaufrère AM, Berchel C, Bessières B, Boudjemaa S, Buenerd A, Carles D, Clemenson A, Dechelotte P, Devisme L, Dijoud F, Espérandieu O, Fallet C, Gonzalès M, Hillion Y, Jacob B, Joubert M, Kermanach P, Lallemand A, Laquerrière A, Laurent N, Liprandi A, Loeuillet L, Loget P, Martinovic J, Ménez F, Narcy F, Roux JJ, Rouleau-Dubois C, Sinico M, Tantau J, Wann AR
Kidney Int 2010 Feb;77(4):350-8. Epub 2009 Nov 25 doi: 10.1038/ki.2009.440. PMID: 19940839

Recent clinical studies

Etiology

Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.
Yang H, Sieben CJ, Schauer RS, Harris PC
Adv Kidney Dis Health 2023 Sep;30(5):397-406. doi: 10.1053/j.akdh.2023.04.004. PMID: 38097330Free PMC Article
Tolvaptan for Children and Adolescents with Autosomal Dominant Polycystic Kidney Disease: Randomized Controlled Trial.
Mekahli D, Guay-Woodford LM, Cadnapaphornchai MA, Greenbaum LA, Litwin M, Seeman T, Dandurand A, Shi L, Sikes K, Shoaf SE, Schaefer F
Clin J Am Soc Nephrol 2023 Jan 1;18(1):36-46. doi: 10.2215/CJN.0000000000000022. PMID: 36719158Free PMC Article
An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International.
Müller RU, Messchendorp AL, Birn H, Capasso G, Cornec-Le Gall E, Devuyst O, van Eerde A, Guirchoun P, Harris T, Hoorn EJ, Knoers NVAM, Korst U, Mekahli D, Le Meur Y, Nijenhuis T, Ong ACM, Sayer JA, Schaefer F, Servais A, Tesar V, Torra R, Walsh SB, Gansevoort RT
Nephrol Dial Transplant 2022 Apr 25;37(5):825-839. doi: 10.1093/ndt/gfab312. PMID: 35134221Free PMC Article
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
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

Diagnosis

Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.
Lanktree MB, Haghighi A, di Bari I, Song X, Pei Y
Clin J Am Soc Nephrol 2021 May 8;16(5):790-799. Epub 2020 Jul 20 doi: 10.2215/CJN.02320220. PMID: 32690722Free PMC Article
Update and review of adult polycystic kidney disease.
Colbert GB, Elrggal ME, Gaur L, Lerma EV
Dis Mon 2020 May;66(5):100887. Epub 2019 Sep 30 doi: 10.1016/j.disamonth.2019.100887. PMID: 31582186
Autosomal dominant tubulointerstitial kidney disease.
Devuyst O, Olinger E, Weber S, Eckardt KU, Kmoch S, Rampoldi L, Bleyer AJ
Nat Rev Dis Primers 2019 Sep 5;5(1):60. doi: 10.1038/s41572-019-0109-9. PMID: 31488840
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
Polycystic Kidney Disease.
Ghata J, Cowley BD Jr
Compr Physiol 2017 Jun 18;7(3):945-975. doi: 10.1002/cphy.c160018. PMID: 28640449

Therapy

Polycystic Kidney Disease Diet: What is Known and What is Safe.
Chebib FT, Nowak KL, Chonchol MB, Bing K, Ghanem A, Rahbari-Oskoui FF, Dahl NK, Mrug M
Clin J Am Soc Nephrol 2024 May 1;19(5):664-682. Epub 2023 Sep 20 doi: 10.2215/CJN.0000000000000326. PMID: 37729939Free PMC Article
Mechanism and application of metformin in kidney diseases: An update.
Song A, Zhang C, Meng X
Biomed Pharmacother 2021 Jun;138:111454. Epub 2021 Mar 11 doi: 10.1016/j.biopha.2021.111454. PMID: 33714781
Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease.
Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Perrone RD, Koch G, Ouyang J, McQuade RD, Blais JD, Czerwiec FS, Sergeyeva O; REPRISE Trial Investigators
N Engl J Med 2017 Nov 16;377(20):1930-1942. Epub 2017 Nov 4 doi: 10.1056/NEJMoa1710030. PMID: 29105594
Polycystic Kidney Disease.
Ghata J, Cowley BD Jr
Compr Physiol 2017 Jun 18;7(3):945-975. doi: 10.1002/cphy.c160018. PMID: 28640449
Tolvaptan in patients with autosomal dominant polycystic kidney disease.
Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Grantham JJ, Higashihara E, Perrone RD, Krasa HB, Ouyang J, Czerwiec FS; TEMPO 3:4 Trial Investigators
N Engl J Med 2012 Dec 20;367(25):2407-18. Epub 2012 Nov 3 doi: 10.1056/NEJMoa1205511. PMID: 23121377Free PMC Article

Prognosis

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
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Mallawaarachchi AC, Lundie B, Hort Y, Schonrock N, Senum SR, Gayevskiy V, Minoche AE, Hollway G, Ohnesorg T, Hinchcliffe M, Patel C, Tchan M, Mallett A, Dinger ME, Rangan G, Cowley MJ, Harris PC, Burnett L, Shine J, Furlong TJ
Eur J Hum Genet 2021 May;29(5):760-770. Epub 2021 Jan 12 doi: 10.1038/s41431-020-00796-4. PMID: 33437033Free PMC Article
Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.
Lanktree MB, Haghighi A, di Bari I, Song X, Pei Y
Clin J Am Soc Nephrol 2021 May 8;16(5):790-799. Epub 2020 Jul 20 doi: 10.2215/CJN.02320220. PMID: 32690722Free PMC Article
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
Tolvaptan in patients with autosomal dominant polycystic kidney disease.
Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Grantham JJ, Higashihara E, Perrone RD, Krasa HB, Ouyang J, Czerwiec FS; TEMPO 3:4 Trial Investigators
N Engl J Med 2012 Dec 20;367(25):2407-18. Epub 2012 Nov 3 doi: 10.1056/NEJMoa1205511. PMID: 23121377Free PMC Article

Clinical prediction guides

Polygenic risk alters the penetrance of monogenic kidney disease.
Khan A, Shang N, Nestor JG, Weng C, Hripcsak G, Harris PC, Gharavi AG, Kiryluk K
Nat Commun 2023 Dec 14;14(1):8318. doi: 10.1038/s41467-023-43878-9. PMID: 38097619Free PMC Article
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
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Mallawaarachchi AC, Lundie B, Hort Y, Schonrock N, Senum SR, Gayevskiy V, Minoche AE, Hollway G, Ohnesorg T, Hinchcliffe M, Patel C, Tchan M, Mallett A, Dinger ME, Rangan G, Cowley MJ, Harris PC, Burnett L, Shine J, Furlong TJ
Eur J Hum Genet 2021 May;29(5):760-770. Epub 2021 Jan 12 doi: 10.1038/s41431-020-00796-4. PMID: 33437033Free PMC Article
MRI in autosomal dominant polycystic kidney disease.
Zhang W, Blumenfeld JD, Prince MR
J Magn Reson Imaging 2019 Jul;50(1):41-51. Epub 2019 Jan 13 doi: 10.1002/jmri.26627. PMID: 30637853
Nephronophthisis.
Salomon R, Saunier S, Niaudet P
Pediatr Nephrol 2009 Dec;24(12):2333-44. Epub 2008 Jul 8 doi: 10.1007/s00467-008-0840-z. PMID: 18607645Free PMC Article

Recent systematic reviews

Synbiotics, prebiotics and probiotics for people with chronic kidney disease.
Cooper TE, Khalid R, Chan S, Craig JC, Hawley CM, Howell M, Johnson DW, Jaure A, Teixeira-Pinto A, Wong G
Cochrane Database Syst Rev 2023 Oct 23;10(10):CD013631. doi: 10.1002/14651858.CD013631.pub2. PMID: 37870148Free PMC Article
Outcome of polycystic kidney disease patients on peritoneal dialysis: Systematic review of literature and meta-analysis.
Dupont V, Kanagaratnam L, Sigogne M, Bechade C, Lobbedez T, Portoles J, Rieu P, Drame M, Touré F
PLoS One 2018;13(5):e0196769. Epub 2018 May 22 doi: 10.1371/journal.pone.0196769. PMID: 29787614Free PMC Article
Intracranial aneurysms in patients with autosomal dominant polycystic kidney disease: prevalence, risk of rupture, and management. A systematic review.
Cagnazzo F, Gambacciani C, Morganti R, Perrini P
Acta Neurochir (Wien) 2017 May;159(5):811-821. Epub 2017 Mar 10 doi: 10.1007/s00701-017-3142-z. PMID: 28283868
Hypertension in autosomal dominant polycystic kidney disease: a meta-analysis.
Marlais M, Cuthell O, Langan D, Dudley J, Sinha MD, Winyard PJ
Arch Dis Child 2016 Dec;101(12):1142-1147. Epub 2016 Jun 10 doi: 10.1136/archdischild-2015-310221. PMID: 27288429
Prevalence of unruptured intracranial aneurysms, with emphasis on sex, age, comorbidity, country, and time period: a systematic review and meta-analysis.
Vlak MH, Algra A, Brandenburg R, Rinkel GJ
Lancet Neurol 2011 Jul;10(7):626-36. doi: 10.1016/S1474-4422(11)70109-0. PMID: 21641282

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      Related information in NCBI Gene
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      Related information in GTR
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      Clinical tests in GTR
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      Related records in OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen
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