Genetic Basis of Posterior Urethral Valves Inheritance

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• 作者：Cinzia Chiaramonte<sup>asup><sup> ; sup><sup>c.chiaramonte@virgilio.it" class="auth_mail" title="E-mail the corresponding authorsup> ; Denisia Bommarito<sup>asup> ; Elisa Zambaiti<sup>asup> ; Vincenzo Antona<sup>bsup> ; Giuseppe Li Voti<sup>asup>
• 刊名：Urology
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：95
• 期：Complete
• 页码：175-179
• 全文大小：836 K

文摘

To highlight genetic pattern of posterior urethral valves (PUVs), we performed a genetic study on 2 siblings affected. PUVs are the most common congenital cause of lower urinary tract obstruction and an important cause of renal failure in infants (50% progress to end-stage renal disease in 10 years). PUVs occur in 1 of 5000-8000 male infants, but real incidence is arduous to determine because of the wide spectrum of possible clinical presentation. A different recurrence rate is reported in African Americans and children with Down syndrome, although usually PUVs are not found in syndromic conditions but constitute an isolated disorder. Although most cases appear to be sporadic, some reports in literature suggest a partial genetic etiology.

sSec_2">Materials and Methods

sp0015">We report 2 brothers with PUVs. The children's mother was a healthy woman but had a history of urinary tract infections of unknown etiology. We investigated possible familial genetic anomalies using a DNA array comparative genomic hybridization technique.

sSec_3">Results

sp0020">We identified 2 partial duplications in the short arm of chromosome 11 recurring in both children and mother.

sSec_4">Conclusion

sp0025">This finding, not previously reported to our knowledge, adds new data to support the hypothesis of the presence of a hereditary component in the occurrences of PUVs.