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Article Dans Une Revue Journal of Nephrology Année : 2017

The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities

Résumé

Background: While reproductive technologies are increasingly used worldwide, epidemiologic, clinical and genetic data regarding infertile men with combined genital tract and renal abnormalities remain scarce, preventing adequate genetic counseling. Methods: In a cohort-based study, we assessed the prevalence (1995-2014) and the clinical characteristics of renal disorders in infertile males with genital tract malformation. In a subset of 34 patients, we performed a detailed phenotype analysis of renal and genital tract disorders. Results: Among the 180 patients with congenital uni- or bilateral absence of vas deferens (CU/BAVD), 45 (25 %) had a renal malformation. We also identified 14 infertile men with combined seminal vesicle (SV) and renal malformation but no CU/BAVD. Among the 34 patients with detailed clinical description, renal disease was unknown before the assessment of the infertility in 27 (79.4 %), and 7 (20.6 %) had chronic renal failure. Four main renal phenotypes were observed: solitary kidney (47 %); autosomal-dominant polycystic kidney disease (ADPKD, 0.6 %); uni- or bilateral hypoplastic kidneys (20.6 %); and a complex renal phenotype associated with a mutation of the HNF1B gene (5.8 %). Absence of SV and azoospermia were significantly associated with the presence of a solitary kidney, while dilatation of SV and necroasthenozoospermia were suggestive of ADPKD. Conclusion: A dominantly inherited renal disease (ADPKD or HNF1B-related nephropathy) is frequent in males with infertility and combined renal and genital tract abnormalities (26 %). A systematic renal screening should be proposed in infertile males with CU/BAVD or SV disorders.
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Dates et versions

hal-03484685 , version 1 (17-12-2021)

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Roger Mieusset, Isabelle Fauquet, Dominique Chauveau, Laetitia Monteil, Nicolas Chassaing, et al.. The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: Phenotypes, genotypes, and genetic counseling. Journal of Nephrology, 2017, 30 (2), pp.211-218. ⟨10.1007/s40620-016-0286-5⟩. ⟨hal-03484685⟩
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