Publications Scientifiques

[ Article ] Autosomal dominant polycystic kidney disease in University Clinic of Nephrology and Haemodialysis of Cotonou

Date de soumission: 01-02-2018
Année de Publication: 2012
Entité/Laboratoire Unité de Médécine Interne (UMI)
Document type : Article
Discipline(s) : Urologie & Néphrologie
Titre Autosomal dominant polycystic kidney disease in University Clinic of Nephrology and Haemodialysis of Cotonou
Auteurs LALEYE Y Anatole [1], AWEDE B [2], AGBOTON Bruno Leopold [3], AZONBAKIN Simon [4], BIAOU OLIVIER [5], SAGBO G [6], ADJAGBA M [6], AUDREZET MP [6],
Journal: Genetic Counseling
Catégorie Journal: Internationale
Impact factor: 0
Volume Journal: 23
DOI:
Resume Autosomal dominant polycystic kidney disease in University Clinic of Nephrology and Haemodialysis of Cotonou: Clinical and genetical findings: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, but poorly studied in Africa. Its frequency in the University Clinic of Nephrology and Hemodialysis of Cotonou during the ten last years was 7 cases per year with a hospital prevalence estimated at 18 per 1000. The mean age of patients was 47.2 years extending from 29 to 70 years. Males were predominant with a sex ratio of 1.13. Family history was found in 47% of patients. The most common manifestations were lumbar pain (62%), high blood pressure (59%) urinary tract infections (53%), hematuria (46%), and abdominal masses (43%). Hepatic cysts were the most extra renal manifestations, found in 34% of cases. Renal failure was observed in 72% of patients of our series, six of them were under dialysis. Direct sequencing of polycystin 1 gene enabled us to identify some new mutations: 4 nonsense mutations (p.Q2824X exon 23, p.Q1651X exon 15, p.W1666X exon 15, p.R966W exon 12), duplication (c _1761.1745 dup exon 9), a deletion (c.9397+1_9397+8del intron 26) and a deletion-insertion (c.7290_7291delins CTGCA exon 18).
Mots clés Autosomal dominant polycystic kidney disease – Polycystin 1 – Mutations – Renal failure
Pages 435 - 445
Fichier (PDF)

Publications par entité

  • Centre de Formation et de Recherche en matière de Population (CEFORP) (15)
  • Centre Interfacultaire de Formation et de Recherche en Environnement pour le Développement Durable (CIFRED) (18)
  • Chaire Internationale en Physique Mathématique et Applications (CIPMA-Chaire UNESCO) (16)
  • Ecole Nationale d'Administration et de Magistrature (ENAM) (44)
  • Ecole Nationle d'Economie Appliquée et de Management (72)
  • Ecole Normale Supérieure (23)
  • Ecole Polytechnique d'Abomey-Calavi (EPAC) (834)
  • Faculté de droit et de Science Politique (FADESP) (45)
  • Faculté des Lettres et Sciences Humaines (FLASH) (789)
  • Faculté des Sciences Agronomiques (1376)
  • Faculté des Sciences de la Santé (FSS) (1613)
  • Faculté des Sciences Economiques et de Gestion (FASEG) (136)
  • Faculté des Sciences et Techniques (FAST) (748)
  • Faculté des Sciences Humaines et Sociales (FASHS) (16)
  • Institut de Formation et de Recherche en Informatique (IFRI) (68)
  • Institut de Mathématiques et de Sciences Physiques (IMSP) (61)
  • Institut National de l'Eau (INE) (13)
  • INSTITUT NATIONAL DE LA JEUNESSE DE L’EDUCATION PHYSIQUE ET SPORT(INJEPS) (191)
  • Institut National des Métiers d'Art d'Archéologie et de la Culture (INMAAC) (4)
  • Institut Régional de Santé Publique (IRSP) (51)

Publications par sexe

  • Femme( 908 )
  • Homme (