The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities
| Autor: | Antoine Huart, Isabelle Fauquet, François Isus, Eric Bieth, Dominique Chauveau, Roger Mieusset, M. Daudin, Laetitia Monteil, Stanislas Faguer, Patrick Calvas, Cathy Prouheze, Louis Bujan, Nicolas Chassaing |
|---|---|
| Přispěvatelé: | Hôpital Paule de Viguier, CHU Toulouse [Toulouse], Groupe de recherche en fertilité humaine ( GRFH), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Clinique Pasteur, Clinique Pasteur [Toulouse], Université Fédérale Toulouse Midi-Pyrénées, Centre de Référence du Sud Ouest des Maladies Rénales Rares, CHU Toulouse [Toulouse]-Hôpital des Enfants, Hôpital de Rangueil, Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Néphrologie et Transplantation d'organes, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse] |
| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Nephrology HNF1B Pregnancy Rate 030232 urology & nephrology Reproductive technology MESH: Risk Assessment Kidney urologic and male genital diseases Gastroenterology Male infertility MESH: Pregnancy Vas Deferens 0302 clinical medicine MESH: Polycystic Kidney Autosomal Dominant / physiopathology Male Urogenital Diseases MESH: Risk Factors [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases Pregnancy Risk Factors MESH: Infertility Male* / epidemiology Prevalence Polycystic kidney disease MESH: Vas Deferens / physiopathology Medicine Absence of vas deferens MESH: Kidney / abnormalities MESH: Treatment Outcome MESH: Pregnancy Rate MESH: France / epidemiology MESH: Middle Aged MESH: Polycystic Kidney Autosomal Dominant / therapy MESH: Genetic Predisposition to Disease MESH: Male Urogenital Diseases / therapy Middle Aged MESH: Hepatocyte Nuclear Factor 1-beta / genetics Polycystic Kidney Autosomal Dominant 3. Good health MESH: Reproductive Techniques Assisted Phenotype Treatment Outcome medicine.anatomical_structure MESH: Fertility / genetics MESH: Live Birth Female France MESH: Kidney / physiopathology MESH: Genetic Counseling MESH: Tomography X-Ray Computed MESH: Infertility Male* / diagnosis Live Birth Adult Infertility medicine.medical_specialty MESH: Mutation Reproductive Techniques Assisted Renal disease Genetic Counseling MESH: Male Urogenital Diseases / physiopathology MESH: Phenotype Risk Assessment Nephropathy 03 medical and health sciences MESH: Male Urogenital Diseases / epidemiology Internal medicine MESH: Polycystic Kidney Autosomal Dominant / genetics Humans Genetic Predisposition to Disease MESH: Prevalence Infertility Male ADPKD Hepatocyte Nuclear Factor 1-beta Retrospective Studies MESH: Vas Deferens / abnormalities Azoospermia Gynecology MESH: Infertility Male* / genetics MESH: Humans business.industry MESH: Male Urogenital Diseases / genetics MESH: Adult MESH: Retrospective Studies MESH: Infertility Male* / physiopathology medicine.disease MESH: Male Fertility 030104 developmental biology Mutation MESH: Polycystic Kidney Autosomal Dominant / epidemiology Tomography X-Ray Computed business MESH: Female |
| Zdroj: | Journal of Nephrology Journal of Nephrology, Italian Society of Nephrology/Springer, 2017, 30 (2), pp.211-218. ⟨10.1007/s40620-016-0286-5⟩ |
| ISSN: | 1724-6059 1121-8428 |
| DOI: | 10.1007/s40620-016-0286-5 |
| Popis: | International audience; 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. |
| Databáze: | OpenAIRE |
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