The Impact of Consanguinity on Severity of Posterior Urethral Valve: Original Article

Ijaz Hussain; Gul Nawaz; Ayaz Khan; Gurdeep Singh; Waqas Iqbal

Authors

Ijaz Hussain
Gul Nawaz
Ayaz Khan
Gurdeep Singh
Waqas Iqbal

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 the siblings, twin children and also in the subsequent generation. However, their occurrence rate and association with consanguineous have never been investigated.}

_Objective:_{To assess the frequency and impact of kinship on the severity of the posterior urethral valve at our centre.}

_{Study Design: A Retrospective Study}

_{Place and duration of study:}_{Diagnosed cases of posterior urethral valves who underwent valve fulguration from Jan 2012 to April 2020 were assessed in this study, conducted at Shifa International Hospital, Islamabad.}

_{Material and method:}_{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 inquired. 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 scaring 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, Retrospective Study}