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Polycystic kidney disease 8(PKD8)

MedGen UID:
1854762
Concept ID:
C5935640
Disease or Syndrome
Synonyms: PKD8; POLYCYSTIC KIDNEY DISEASE 8
 
Gene (location): NEK8 (17q11.2)
 
Monarch Initiative: MONDO:0971178
OMIM®: 620903

Definition

Polycystic kidney disease-8 (PKD8) is an autosomal dominant disorder characterized by enlarged kidneys, arterial hypertension, and kidney failure (Claus et al., 2023). [from OMIM]

Clinical features

From HPO
Focal segmental glomerulosclerosis
MedGen UID:
4904
Concept ID:
C0017668
Disease or Syndrome
Segmental accumulation of scar tissue in individual (but not all) glomeruli.
Polyuria
MedGen UID:
19404
Concept ID:
C0032617
Sign or Symptom
An increased rate of urine production.
Enlarged kidney
MedGen UID:
108156
Concept ID:
C0542518
Finding
An abnormal increase in the size of the kidney.
Nephronophthisis
MedGen UID:
146912
Concept ID:
C0687120
Disease or Syndrome
The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
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.
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.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Hepatic cysts
MedGen UID:
82761
Concept ID:
C0267834
Disease or Syndrome
A cystic lesion located in the liver.
Polydipsia
MedGen UID:
43214
Concept ID:
C0085602
Sign or Symptom
Excessive thirst manifested by excessive fluid intake.

Professional guidelines

PubMed

Hogan MC, Masyuk TV
Clin J Am Soc Nephrol 2023 Feb 1;18(2):154-156. Epub 2023 Jan 16 doi: 10.2215/CJN.0000000000000055. PMID: 36754002Free PMC Article
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
Rangan GK, Alexander SI, Campbell KL, Dexter MA, Lee VW, Lopez-Vargas P, Mai J, Mallett A, Patel C, Patel M, Tchan MC, Tong A, Tunnicliffe DJ, Vladica P, Savige J
Nephrology (Carlton) 2016 Aug;21(8):705-16. doi: 10.1111/nep.12658. PMID: 26511892

Recent clinical studies

Etiology

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
Chalklin CG, Koimtzis G, Ablorsu E
Int J Urol 2022 Aug;29(8):907-908. Epub 2022 Apr 25 doi: 10.1111/iju.14906. PMID: 35470481
Carrera P, Calzavara S, Magistroni R, den Dunnen JT, Rigo F, Stenirri S, Testa F, Messa P, Cerutti R, Scolari F, Izzi C, Edefonti A, Negrisolo S, Benetti E, Alibrandi MT, Manunta P, Boletta A, Ferrari M
Sci Rep 2016 Aug 8;6:30850. doi: 10.1038/srep30850. PMID: 27499327Free PMC Article
Reig B, Blumenfeld J, Donahue S, Prince MR
Clin Imaging 2015 Mar-Apr;39(2):289-92. Epub 2014 Oct 31 doi: 10.1016/j.clinimag.2014.10.016. PMID: 25542752
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

Diagnosis

Chang AR, Moore BS, Luo JZ, Sartori G, Fang B, Jacobs S, Abdalla Y, Taher M, Carey DJ, Triffo WJ, Singh G, Mirshahi T
JAMA 2022 Dec 27;328(24):2412-2421. doi: 10.1001/jama.2022.22847. PMID: 36573973Free PMC Article
Rangan GK, Alexander SI, Campbell KL, Dexter MA, Lee VW, Lopez-Vargas P, Mai J, Mallett A, Patel C, Patel M, Tchan MC, Tong A, Tunnicliffe DJ, Vladica P, Savige J
Nephrology (Carlton) 2016 Aug;21(8):705-16. doi: 10.1111/nep.12658. PMID: 26511892
Ho PN, Dyer RB
Abdom Imaging 2015 Oct;40(8):3340-1. doi: 10.1007/s00261-015-0493-x. PMID: 26088344
Audrézet MP, Cornec-Le Gall E, Chen JM, Redon S, Quéré I, Creff J, Bénech C, Maestri S, Le Meur Y, Férec C
Hum Mutat 2012 Aug;33(8):1239-50. Epub 2012 May 24 doi: 10.1002/humu.22103. PMID: 22508176
Blyth H, Ockenden BG
J Med Genet 1971 Sep;8(3):257-84. doi: 10.1136/jmg.8.3.257. PMID: 5097134Free PMC Article

Therapy

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
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
Chalklin CG, Koimtzis G, Ablorsu E
Int J Urol 2022 Aug;29(8):907-908. Epub 2022 Apr 25 doi: 10.1111/iju.14906. PMID: 35470481
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
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

Bjornstad P, Richard G, Choi YJ, Nowak KL, Steele C, Chonchol MB, Nadeau KJ, Vigers T, Pyle L, Tommerdahl K, van Raalte DH, Hilkin A, Driscoll L, Birznieks C, Hopp K, Wang W, Edelstein C, Nelson RG, Gregory AV, Kline TL, Blondin D, Gitomer B
Am J Kidney Dis 2024 Sep;84(3):286-297.e1. Epub 2024 Apr 15 doi: 10.1053/j.ajkd.2024.02.016. PMID: 38621633Free PMC Article
Roumie CL, Hung AM, Russell GB, Basile J, Kreider KE, Nord J, Ramsey TM, Rastogi A, Sweeney ME, Tamariz L, Kostis WJ, Williams JS, Zias A, Cushman WC; SPRINT Research Group
Hypertension 2020 Feb;75(2):331-338. Epub 2019 Dec 23 doi: 10.1161/HYPERTENSIONAHA.118.12572. PMID: 31865790Free PMC Article
Rangan GK, Alexander SI, Campbell KL, Dexter MA, Lee VW, Lopez-Vargas P, Mai J, Mallett A, Patel C, Patel M, Tchan MC, Tong A, Tunnicliffe DJ, Vladica P, Savige J
Nephrology (Carlton) 2016 Aug;21(8):705-16. doi: 10.1111/nep.12658. PMID: 26511892
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
Mullin EM, Paulson DF
Urology 1976 Jul;8(1):5-8. doi: 10.1016/0090-4295(76)90042-x. PMID: 941361

Clinical prediction guides

Zhu M, Wang Y, Lu T, Guo J, Li L, Hsieh MH, Gopal P, Han Y, Fujiwara N, Wallace DP, Yu ASL, Fang X, Ransom C, Verschleisser S, Hsiehchen D, Hoshida Y, Singal AG, Yopp A, Wang T, Zhu H
Cell Metab 2024 Aug 6;36(8):1711-1725.e8. Epub 2024 Jun 19 doi: 10.1016/j.cmet.2024.05.015. PMID: 38901424
Chang AR, Moore BS, Luo JZ, Sartori G, Fang B, Jacobs S, Abdalla Y, Taher M, Carey DJ, Triffo WJ, Singh G, Mirshahi T
JAMA 2022 Dec 27;328(24):2412-2421. doi: 10.1001/jama.2022.22847. PMID: 36573973Free PMC Article
Ushio Y, Kataoka H, Iwadoh K, Ohara M, Suzuki T, Hirata M, Manabe S, Kawachi K, Akihisa T, Makabe S, Sato M, Iwasa N, Yoshida R, Hoshino J, Mochizuki T, Tsuchiya K, Nitta K
Sci Rep 2022 Nov 9;12(1):19155. doi: 10.1038/s41598-022-23882-7. PMID: 36351996Free PMC Article
Rangan GK, Alexander SI, Campbell KL, Dexter MA, Lee VW, Lopez-Vargas P, Mai J, Mallett A, Patel C, Patel M, Tchan MC, Tong A, Tunnicliffe DJ, Vladica P, Savige J
Nephrology (Carlton) 2016 Aug;21(8):705-16. doi: 10.1111/nep.12658. PMID: 26511892
Reig B, Blumenfeld J, Donahue S, Prince MR
Clin Imaging 2015 Mar-Apr;39(2):289-92. Epub 2014 Oct 31 doi: 10.1016/j.clinimag.2014.10.016. PMID: 25542752

Recent systematic reviews

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
Li X, Li W, Li Y, Dong C, Zhu P
Nefrologia (Engl Ed) 2023 Nov-Dec;43(6):731-741. Epub 2023 May 5 doi: 10.1016/j.nefroe.2023.04.002. PMID: 37150675
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
Bolignano D, Palmer SC, Ruospo M, Zoccali C, Craig JC, Strippoli GF
Cochrane Database Syst Rev 2015 Jul 14;2015(7):CD010294. doi: 10.1002/14651858.CD010294.pub2. PMID: 26171904Free PMC Article
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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