The Impact of Consanguinity on Severity of Posterior Urethral Valve

Original Article

Abstract

Background: Posterior urethral valve (PUV) is one of the frequent causes of obstructive uropathies at birth. When inadequately managed, it leads to vesicoureteric reflux disease, recurrence of UTIs, voiding disorder, and chronic renal insufficiency. These valves have been observed among siblings, twin children, and the subsequent generation. However, their occurrence rate and association with consanguinity have never been investigated.

Objective: To assess the frequency and impact of kinship on the severity of the posterior urethral valve at our center.

Study Design: A Retrospective Study

Place and duration of study: from Jan 2012 to April 2020 department of Urology MTI,LRH Peshawar

Material and method: in our study patients were diagnosed via voiding symptoms, ultrasound, and confirmation by VCUG and cystoscopy. In all patients, the history of consanguineous marriage and any history of PUV in the family was acquired. All cases were evaluated for renal function with BUN and creatinine, including eGFR, as per Schwartz’s formula. A nuclear scan was performed in all patients to rule out renal scarring and split renal function.

Results: The mean age of children who underwent valve fulguration was 4.34 + 2.7 years. Family history of first-degree cousin marriage was found in 56 (33.0%) patients. Statistical analysis of clinical parameters of the posterior urethral valve, including the degree of hydronephrosis, vesicoureteric reflux, and chronic kidney disease, showed that the product of cousin marriage had more severe disease.

Conclusion: One-third of PUV patients had a history of consanguineous marriages in this study. These cases develop early renal insufficiency as well as a more severe disease.

Keywords: Posterior urethral valve, Consanguinity, Severity, Renal insufficiency