Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-04-01

AUTHORS

Sho Ishiwa, Mai Sato, Naoya Morisada, Kentaro Nishi, Toru Kanamori, Mika Okutsu, Masao Ogura, Mayumi Sako, Motomichi Kosuga, Koichi Kamei, Shuichi Ito, Kandai Nozu, Kazumoto Iijima, Kenji Ishikura

ABSTRACT

BackgroundThe association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations has yet to be fully explored.MethodsIn this retrospective cohort study, we examined patients with CAKUT who underwent gene analysis. The analysis was performed in patients with bilateral renal lesions, extrarenal complications, or a family history of renal disease. The data from the diagnosis, gene mutations, and other complications were analyzed.ResultsIn total, 66 patients with CAKUT were included. Of these, gene mutations were detected in 14 patients. Bilateral renal lesions were significantly related to the identification of gene mutations (p = 0.02), and no gene mutations were observed in patients with lower urinary tract obstruction (six patients). There was no significant difference in the rate of gene mutations between those with or without extrarenal complications (p = 0.76). The HNF1β gene mutation was identified in most of the patients with hypodysplastic kidney with multicystic dysplastic kidney (six of seven patients). There was no significant difference in the presence or absence of gene mutations with respect to the renal survival rate (log-rank test p = 0.53). The renal prognosis varied, but the differences were not statistically significant for any of the gene mutations.ConclusionsCAKUT with bilateral renal lesions were significantly related to gene mutations. We recommend that CAKUT-related gene analysis be considered in cases of bilateral renal lesions. No gene mutations were observed in patients with lower urinary tract obstruction. The renal prognosis varied for each gene mutation. More... »

PAGES

1457-1464

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00467-019-04230-w

DOI

http://dx.doi.org/10.1007/s00467-019-04230-w

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1113174428

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30937553


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32 schema:description BackgroundThe association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations has yet to be fully explored.MethodsIn this retrospective cohort study, we examined patients with CAKUT who underwent gene analysis. The analysis was performed in patients with bilateral renal lesions, extrarenal complications, or a family history of renal disease. The data from the diagnosis, gene mutations, and other complications were analyzed.ResultsIn total, 66 patients with CAKUT were included. Of these, gene mutations were detected in 14 patients. Bilateral renal lesions were significantly related to the identification of gene mutations (p = 0.02), and no gene mutations were observed in patients with lower urinary tract obstruction (six patients). There was no significant difference in the rate of gene mutations between those with or without extrarenal complications (p = 0.76). The HNF1β gene mutation was identified in most of the patients with hypodysplastic kidney with multicystic dysplastic kidney (six of seven patients). There was no significant difference in the presence or absence of gene mutations with respect to the renal survival rate (log-rank test p = 0.53). The renal prognosis varied, but the differences were not statistically significant for any of the gene mutations.ConclusionsCAKUT with bilateral renal lesions were significantly related to gene mutations. We recommend that CAKUT-related gene analysis be considered in cases of bilateral renal lesions. No gene mutations were observed in patients with lower urinary tract obstruction. The renal prognosis varied for each gene mutation.
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39 schema:keywords BackgroundThe association
40 CAKUT
41 MethodsIn
42 ResultsIn total
43 absence
44 analysis
45 anomalies
46 association
47 bilateral renal lesions
48 cases
49 clinical presentation
50 cohort study
51 complications
52 congenital anomalies
53 data
54 diagnosis
55 differences
56 disease
57 dysplastic kidney
58 extrarenal complications
59 family history
60 gene analysis
61 gene mutations
62 history
63 hypodysplastic kidney
64 identification
65 institutions
66 kidney
67 lesions
68 lower urinary tract obstruction
69 multicystic dysplastic kidney
70 mutations
71 obstruction
72 patients
73 presence
74 presentation
75 prognosis
76 rate
77 renal disease
78 renal lesions
79 renal prognosis
80 renal survival rate
81 respect
82 retrospective cohort study
83 significant differences
84 single institution
85 study
86 survival rate
87 total
88 tract
89 tract obstruction
90 urinary tract
91 urinary tract obstruction
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