Details

Autor(en) / Beteiligte

• Nishi, Kentaro
• Okutsu, Mika
• Ogura, Masao
• Kanamori, Toru
• Morisada, Naoya
• Sato, Mai
• Ishiwa, Sho

Titel

Association between the clinical presentation of congenital anomalies of the kidney and urinary tract

Ist Teil von

• Pediatric nephrology (Berlin, West), 2019-08, Vol.34 (8), p.1457

Ort / Verlag

Springer

Erscheinungsjahr

2019

Quelle

SpringerLink

Beschreibungen/Notizen

• Background The association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations has yet to be fully explored. Methods In 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. Results In 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 HNF1[beta] 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. Conclusions CAKUT 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.