{"id":1838,"date":"2008-10-01T01:00:00","date_gmt":"2008-10-01T00:00:00","guid":{"rendered":"https:\/\/angh.net\/abstracts\/lithiase-biliaire-symptomatique-associee-a-la-mutation-du-gene-abcb4-mdr3-experience-dans-la-population-non-selectionnee-dun-hopital-general\/"},"modified":"2018-10-20T18:39:44","modified_gmt":"2018-10-20T16:39:44","slug":"lithiase-biliaire-symptomatique-associee-a-la-mutation-du-gene-abcb4-mdr3-experience-dans-la-population-non-selectionnee-dun-hopital-general","status":"publish","type":"post","link":"https:\/\/angh.net\/abstracts\/lithiase-biliaire-symptomatique-associee-a-la-mutation-du-gene-abcb4-mdr3-experience-dans-la-population-non-selectionnee-dun-hopital-general\/","title":{"rendered":"Lithiase biliaire symptomatique associ\u00e9e \u00e0 la mutation du g\u00e8ne ABCB4\/MDR3. Exp\u00e9rience dans la population non s\u00e9lectionn\u00e9e d\u2019un h\u00f4pital g\u00e9n\u00e9ral."},"content":{"rendered":"<p><strong>2008<\/strong><\/p>\n<p><em>B. Condat (1), D. Zanditenas (1), M.P. Hauuy (2), Y. Ngo (1), L. Dugue (3), A. Maftouh (3), C. Balian (3), J. Bonnet (1), K. Arnouni (2),  A. Charlier (3), V. Collot (2), M. Blazquez (1).<br \/>\n(1) Service d\u2019H\u00e9patogastroent\u00e9rologie, (2) de Radiologie et (3) de chirurgie visc\u00e9rale, H\u00f4pital Saint Camille, Bry-Sur-Marne.<\/em><\/p>\n<p><strong>H\u00e9patologie <\/strong>&#8211; \u00a02008-05-27 &#8211;\u00a0 &#8211;<\/p>\n<p>________________________________<\/p>\n<p>Une mutation du g\u00e8ne ABCB4\/MDR3 responsable du syndrome \u00ab Low Phospholipid Associated Cholelithiasis \u00bb (LPAC) est pr\u00e9sente dans la moiti\u00e9 des cas de maladies lithiasiques biliaires symptomatiques associant au moins 2\/3 crit\u00e8res suivants: (1) premiers sympt\u00f4mes avant 40 ans, (2) r\u00e9cidive apr\u00e8s chol\u00e9cystectomie, (3) mat\u00e9riel hyper\u00e9chog\u00e8ne intrah\u00e9patique (spots ou calculs).<br \/>\nCependant ces conclusions reposent sur une seule \u00e9tude de patients s\u00e9lectionn\u00e9s.<br \/>\nButs: (1) Confirmer le taux de mutation MDR3\/ABCB4 quand il existe &#8805;2 crit\u00e8res de LPAC, (2) Etudier le ph\u00e9notype des patients ayant &#8805;2 crit\u00e8res sans mutation, (3) Evaluer la pr\u00e9valence du syndrome LPAC dans une population non s\u00e9lectionn\u00e9e.<br \/>\nUne mutation du g\u00e8ne ABCB4\/MDR3 responsable du syndrome \u00ab Low Phospholipid Associated Cholelithiasis \u00bb (LPAC) est pr\u00e9sente dans la moiti\u00e9 des cas de maladies lithiasiques biliaires symptomatiques associant au moins 2\/3 crit\u00e8res suivants: (1) premiers sympt\u00f4mes avant 40 ans, (2) r\u00e9cidive apr\u00e8s chol\u00e9cystectomie, (3) mat\u00e9riel hyper\u00e9chog\u00e8ne intrah\u00e9patique (spots ou calculs).<br \/>\nCependant ces conclusions reposent sur une seule \u00e9tude de patients s\u00e9lectionn\u00e9s.<br \/>\nButs: (1) Confirmer le taux de mutation MDR3\/ABCB4 quand il existe &#8805;2 crit\u00e8res de LPAC, (2) Etudier le ph\u00e9notype des patients ayant &#8805;2 crit\u00e8res sans mutation, (3) Evaluer la pr\u00e9valence du syndrome LPAC dans une population non s\u00e9lectionn\u00e9e.<br \/>\nPatients et m\u00e9thodes: La mutation ABCB4\/MDR3 a \u00e9t\u00e9 recherch\u00e9e si un syndrome LPAC \u00e9tait cliniquement \u00e9voqu\u00e9. Les 15 patients (13 femmes et 2 hommes) ayant eu (1) la recherche de la mutation ABCB4\/MDR3 \u00e0 l\u2019h\u00f4pital Saint Camille en 2006 et 2007 et (2) une cholangio-IRM \u00e9liminant une maladie des voies biliaires ont \u00e9t\u00e9 inclus.<br \/>\nPar ailleurs, nous avons fait l\u2019hypoth\u00e8se que le nombre de chol\u00e9cystectomie est proche du nombre de lithiases symptomatiques vues pendant la m\u00eame p\u00e9riode.<br \/>\nR\u00e9sultats:<br \/>\nHuit patients avaient &#8805;2 crit\u00e8res de LPAC (groupe A) et 7 avaient &#8804;1 crit\u00e8re (groupe B). Une mutation ABCB4\/MDR3 a \u00e9t\u00e9 retrouv\u00e9e chez 4\/8 (50%) patients du groupe A contre 0\/7 (0%) patients du groupe B (p&lt;0,05).<br \/>\nLes caract\u00e9ristiques des 4 patients du groupe A sans mutation, des 4 patients du groupe A avec une mutation et des 7 patients du groupe B \u00e9taient les suivantes, respectivement:  (1) \u00e2ge des premiers sympt\u00f4mes biliaires: 25, 26 et 55 ans ; (2) ant\u00e9c\u00e9dents familiaux au premier degr\u00e9 de lithiase symptomatique avant 40 ans: 75%, 75% et 29% ; (3) association de lithiase v\u00e9siculaire et h\u00e9patique: 100%, 75% et 0% ; (4) douleurs biliaires subintrantes ou r\u00e9p\u00e9t\u00e9es: 100%, 75% et 0% ; (5) influence de la grossesse et\/ou des \u0153stroprogestatifs: 3\/3, 2\/3 et 0\/3 patientes concern\u00e9es et (6) ant\u00e9c\u00e9dents de cholestase gravidique: 1\/2, 2\/3 et 0\/3 patientes concern\u00e9es.<br \/>\nEn 2005 et 2006, la proportion de patients de tous \u00e2ges et de moins de 35 ans mut\u00e9s ABCB4\/MDR3 par rapport au nombre de chol\u00e9cystectomie aux m\u00eames \u00e2ges, \u00e9tait de 4 pour 391 (1%) et 4 pour 63 (6%), respectivement.<br \/>\nConclusions:<br \/>\nNous confirmons que la moiti\u00e9 des patients avec &#8805;2 crit\u00e8res de LPAC sont porteurs d\u2019une mutation MDR3\/ABCB4.<br \/>\nLes patients avec &#8805;2 crit\u00e8res de LPAC non mut\u00e9s MDR3\/ABCB4 ont un ph\u00e9notype identique en tous points \u00e0 celui des patients mut\u00e9s MDR3\/ABCB4. De nouvelles mutations doivent \u00eatre recherch\u00e9e chez ces patients.<br \/>\nEn cas de lithiase symptomatique non s\u00e9lectionn\u00e9e avant 35 ans la fr\u00e9quence de la mutation MDR3\/ABCB4 semble \u00eatre au minimum de 6%, et celle du ph\u00e9notype de LPAC au minimum de 12%.<\/p>\n<p>Rosmorduc et al. Gastroenterology 2003;125:452-459<\/p>\n","protected":false},"excerpt":{"rendered":"<p>2008 B. Condat (1), D. Zanditenas (1), M.P. Hauuy (2), Y. Ngo (1), L. Dugue (3), A. Maftouh (3), C. Balian (3), J. Bonnet (1), K. Arnouni (2), A. Charlier (3), V. Collot (2), M. Blazquez (1). (1) Service d\u2019H\u00e9patogastroent\u00e9rologie, (2) de Radiologie et (3) de chirurgie visc\u00e9rale, H\u00f4pital Saint Camille, Bry-Sur-Marne. H\u00e9patologie &#8211; \u00a02008-05-27 [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[3],"tags":[19],"class_list":["post-1838","post","type-post","status-publish","format-standard","hentry","category-hepatologie","tag-19"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Lithiase biliaire symptomatique associ\u00e9e \u00e0 la mutation du g\u00e8ne ABCB4\/MDR3. Exp\u00e9rience dans la population non s\u00e9lectionn\u00e9e d\u2019un h\u00f4pital g\u00e9n\u00e9ral. - Abstracts des congr\u00e8s de l&#039;ANGH<\/title>\n<meta name=\"description\" content=\"ANGH R\u00e9sum\u00e9s congr\u00e8s H\u00e9patologie Gastroent\u00e9romogie Hepatology Gastroenterology Etudes cliniques Clinical study\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/angh.net\/abstracts\/lithiase-biliaire-symptomatique-associee-a-la-mutation-du-gene-abcb4-mdr3-experience-dans-la-population-non-selectionnee-dun-hopital-general\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Lithiase biliaire symptomatique associ\u00e9e \u00e0 la mutation du g\u00e8ne ABCB4\/MDR3. 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