Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis.
adult-onset kidney disease
chronic kidney disease
human genetics
nephronophthisis
renal cystic disease
renal pathology
Journal
Kidney international reports
ISSN: 2468-0249
Titre abrégé: Kidney Int Rep
Pays: United States
ID NLM: 101684752
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
received:
24
11
2020
revised:
29
01
2021
accepted:
01
02
2021
entrez:
20
5
2021
pubmed:
21
5
2021
medline:
21
5
2021
Statut:
epublish
Résumé
Recently, nephronophthisis (NPH) has been considered a monogenic cause of end-stage renal disease (ESRD) in adults. However, adult-onset NPH is difficult to accurately diagnose and has not been reported in a cohort study. In this study, we assessed the genetic background and clinicopathologic features of adult NPH. We investigated 18 sporadic adult patients who were suspected as having NPH by renal biopsy. We analyzed 69 genes that cause hereditary cystic kidney disease and compared clinicopathologic findings between patients with and without pathogenic mutations in NPH-causing genes. Seven of 18 patients had pathogenic NPH-causing mutations in In adult patients with NPH, thick TBM duplication was the specific finding. Our analysis also suggested that older patients tended to have no pathogenic mutations, even when they were suspected to have NPH by renal biopsy. These findings could be the novel clinical clue for the diagnosis of NPH in adult patients.
Identifiants
pubmed: 34013113
doi: 10.1016/j.ekir.2021.02.005
pii: S2468-0249(21)00076-0
pmc: PMC8116764
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1346-1354Informations de copyright
© 2021 International Society of Nephrology. Published by Elsevier Inc.
Références
Front Pediatr. 2018 Jan 05;5:287
pubmed: 29379777
Am J Hum Genet. 2017 Feb 2;100(2):323-333
pubmed: 28089251
Biochem Biophys Res Commun. 2018 Feb 5;496(2):450-454
pubmed: 29337054
Nephrol Dial Transplant. 2006 Sep;21(9):2660-3
pubmed: 16782989
Am J Kidney Dis. 2016 Jun;67(6):e33-4
pubmed: 27211375
Hum Genet. 2013 Aug;132(8):865-84
pubmed: 23559409
Kidney Int. 2017 Mar;91(3):552-560
pubmed: 27773427
Genet Med. 2017 Aug;19(8):875-882
pubmed: 28125082
Nephrology (Carlton). 2018 Oct;23(10):904-911
pubmed: 29717526
Clin Genet. 2018 Jul;94(1):125-131
pubmed: 29520754
Transplantation. 2018 Nov;102(11):1795-1814
pubmed: 30028786
Am J Kidney Dis. 2020 Aug;76(2):282-287
pubmed: 31810733
Hum Mol Genet. 2016 Jun 1;25(11):2283-2294
pubmed: 27008867
Ir J Med Sci. 2016 Aug;185(3):589-595
pubmed: 26037636
Hum Pathol. 2018 Nov;81:71-77
pubmed: 29949740
J Am Soc Nephrol. 2018 Jun;29(6):1772-1779
pubmed: 29654215
J Am Soc Nephrol. 2009 Jan;20(1):23-35
pubmed: 19118152
Mol Biol Cell. 2014 Mar;25(5):643-57
pubmed: 24403605
Adv Chronic Kidney Dis. 2016 Jan;23(1):19-28
pubmed: 26709059
Nat Rev Nephrol. 2016 Jan;12(1):27-36
pubmed: 26553514
Nephrol Dial Transplant. 2015 Nov;30(11):1833-41
pubmed: 25488894
Biomed Res. 2014;35(4):227-36
pubmed: 25152031
Pediatr Nephrol. 2011 Jun;26(6):967-71
pubmed: 21258817
J Pathol. 1973 Mar;109(3):195-207
pubmed: 4719771
Curr Opin Pediatr. 2015 Apr;27(2):201-11
pubmed: 25635582
Bioinformatics. 2012 May 15;28(10):1307-13
pubmed: 22474122
Cell. 2012 Aug 3;150(3):533-48
pubmed: 22863007
Arch Histol Cytol. 2010;73(3):113-25
pubmed: 22572179
Hypertens Res. 2012 Dec;35(12):1121-8
pubmed: 23076406
BMC Nephrol. 2019 May 16;20(1):173
pubmed: 31096956
Am J Kidney Dis. 2009 Jun;53(6):982-92
pubmed: 19339088
Hum Mutat. 2015 Sep;36(9):831-5
pubmed: 26096313
Clin Exp Nephrol. 2017 Feb;21(1):63-75
pubmed: 26920127
Virchows Arch A Pathol Anat Histol. 1982;394(3):235-54
pubmed: 7072145