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Summary
Congenital anomalies of the kidney and urinary tract (CAKUTs) occur in 3–6 per 1000 live births, accounting for most cases of paediatric end-stage kidney disease.1 However, the molecular basis of CAKUT and anomalies of the external genitalia is poorly understood. We, herein, describe a case with left recurrent epididymo-orchitis with a coexistent urethral duplication and an ectopic ureter with an ipsilateral non-functioning kidney, which is, to the best of our knowledge, the first reported case of its kind. This case may bring about a paradigm shift in our comprehension of the development of the two entities. Understanding the pathogenesis may help develop preventive and renal preservation strategies. The Sonic hedgehog gene and bone morphogenetic protein 4 play crucial roles in preventing anomalies of the ureters and the external genitalia. In this article, we look at possible molecular pathways that could explain the synchronicity of this rare entity.
- renal system
- urinary and genital tract disorders
- congenital disorders
- paediatrics
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Footnotes
Contributors FM, the corresponding author, is responsible for the layout, editing, research, analysis and review of literature for the paper. SJ, a senior paediatric surgery consultant at the Department of Paediatric Surgery, Christian Medical College, Vellore, is responsible for the decision-making in the surgical care of this patient and for the inception of the idea of publishing this paper. Both authors have made substantial contributions to the conception and design of the work and are in agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. Both authors are also guarantors of the paper.
Competing interests None declared.
Patient consent Guardian consent obtained.
Provenance and peer review Not commissioned; externally peer reviewed.