Variable phenotype in
CAKUT
HNF1B
MODY
hypomagnesaemia
pancreatic structural anomalies
Journal
Clinical kidney journal
ISSN: 2048-8505
Titre abrégé: Clin Kidney J
Pays: England
ID NLM: 101579321
Informations de publication
Date de publication:
Jun 2019
Jun 2019
Historique:
received:
07
05
2018
entrez:
15
6
2019
pubmed:
15
6
2019
medline:
15
6
2019
Statut:
epublish
Résumé
Mutations in This study reports the results of This study identified a pathogenic variant in 23 patients from 21 families. The most frequent finding was bilateral cystic dysplasia or hyperechogenic kidneys (87% of patients). Sixty percent of them also fulfilled the criteria for impaired glucose metabolism, and these were significantly older than those patients with an Renal anomalies found in patients with
Sections du résumé
BACKGROUND
BACKGROUND
Mutations in
METHODS
METHODS
This study reports the results of
RESULTS
RESULTS
This study identified a pathogenic variant in 23 patients from 21 families. The most frequent finding was bilateral cystic dysplasia or hyperechogenic kidneys (87% of patients). Sixty percent of them also fulfilled the criteria for impaired glucose metabolism, and these were significantly older than those patients with an
CONCLUSIONS
CONCLUSIONS
Renal anomalies found in patients with
Identifiants
pubmed: 31198537
doi: 10.1093/ckj/sfy102
pii: sfy102
pmc: PMC6543961
doi:
Types de publication
Journal Article
Langues
eng
Pagination
373-379Références
Cancer Res. 2000 Jun 1;60(11):2760-3
pubmed: 10850409
J Am Soc Nephrol. 2001 Oct;12(10):2175-80
pubmed: 11562418
Kidney Int. 2002 Apr;61(4):1243-51
pubmed: 11918730
Nephron. 1976;16(1):31-41
pubmed: 1244564
EMBO J. 2004 Apr 7;23(7):1657-68
pubmed: 15029248
Ann Intern Med. 2004 Apr 6;140(7):510-7
pubmed: 15068978
J Med Genet. 2006 Jan;43(1):84-90
pubmed: 15930087
Kidney Int. 2005 Nov;68(5):1944-7
pubmed: 16221171
Diabetes. 2005 Nov;54(11):3126-32
pubmed: 16249435
J Am Soc Nephrol. 2006 Feb;17(2):497-503
pubmed: 16371430
J Am Soc Nephrol. 2007 Mar;18(3):923-33
pubmed: 17267738
Nephrol Dial Transplant. 2008 Feb;23(2):627-35
pubmed: 17971380
J Am Soc Nephrol. 2009 Mar;20(3):629-37
pubmed: 19158356
J Am Soc Nephrol. 2009 May;20(5):1123-31
pubmed: 19389850
Clin J Am Soc Nephrol. 2010 Jun;5(6):1079-90
pubmed: 20378641
Am J Obstet Gynecol. 2010 Oct;203(4):364.e1-5
pubmed: 20633866
Chin Med J (Engl). 2010 Nov;123(22):3326-33
pubmed: 21163139
Clin J Am Soc Nephrol. 2013 Jul;8(7):1179-87
pubmed: 23539225
Diabetes Care. 2014 Jan;37 Suppl 1:S81-90
pubmed: 24357215
Prenat Diagn. 2014 Jan;34(1):90-3
pubmed: 24382792
Prenat Diagn. 2016 Aug;36(8):744-51
pubmed: 27297286
Fertil Steril. 2017 Jul;108(1):145-151.e2
pubmed: 28600106
Int J Gynaecol Obstet. 1988 Feb;26(1):61-4
pubmed: 2892740
Clin Nephrol. 1997 Jan;47(1):19-22
pubmed: 9021236
Nat Genet. 1997 Dec;17(4):384-5
pubmed: 9398836