{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T14:15:15Z","timestamp":1747232115748,"version":"3.40.5"},"reference-count":0,"publisher":"Tunisian Society of Medical Sciences","issue":"5","license":[{"start":{"date-parts":[[2024,5,12]],"date-time":"2024-05-12T00:00:00Z","timestamp":1715472000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Tunis Med"],"abstract":"<jats:p>Introduction\u00a0: L\u2019intol\u00e9rance aux prot\u00e9ines dibasiques (IPD) est une maladie h\u00e9r\u00e9ditaire rare caus\u00e9e par un d\u00e9faut du transport membranaire des acides amin\u00e9s dibasiques. Elle est caus\u00e9e par une mutation du g\u00e8ne SLC7A7.\nObjectif\u00a0: Le but de ce travail \u00e9tait d\u2019\u00e9tudier les particularit\u00e9s cliniques, diagnostiques et th\u00e9rapeutiques de l\u2019IPD.\nM\u00e9thodes\u00a0: Il s\u2019agissait d\u2019une \u00e9tude r\u00e9trospective men\u00e9e au service de p\u00e9diatrie de l\u2019H\u00f4pital la Rabta sur une p\u00e9riode de 30 ans (1992 \u00e0 2022). Nous avons inclus les patients ayant des signes cliniques \u00e9vocateurs de l\u2019intol\u00e9rance aux prot\u00e9ines dibasiques et de l\u2019acide orotique dans les urines.\nR\u00e9sultats\u00a0: Nous avons collig\u00e9 sept patients. L\u2019\u00e2ge m\u00e9dian des premiers signes \u00e9tait de neuf mois. L\u2019\u00e2ge m\u00e9dian du diagnostic positif \u00e9tait de 21 mois. Le retard de croissance staturo-pond\u00e9rale, l\u2019h\u00e9patospl\u00e9nom\u00e9galie et les perturbations du bilan h\u00e9matologique \u00e9taient les principaux signes r\u00e9v\u00e9lateurs de la maladie. L\u2019hyperammoni\u00e9mie et l\u2019augmentation de l\u2019acide orotique dans les urines \u00e9taient retrouv\u00e9s chez tous les patients. La biologie mol\u00e9culaire avait montr\u00e9 la mutation del TTCT 1471 chez cinq malades. Un r\u00e9gime hypoprotidique et une suppl\u00e9mentation en citrulline \u00e9taient prescrits chez tous les patients. Les complications de la maladie \u00e9taient le retard de croissance (n=7), le retard psychomoteur ou intellectuel (n=5), l\u2019lymphohistiocytose h\u00e9mophagocytaire (n=4) et l\u2019ost\u00e9oporose (n=3). Apr\u00e8s un recul m\u00e9dian de 11 ans, six de nos patients sont en vie. Une patiente est d\u00e9c\u00e9d\u00e9e dans un tableau d\u2019enc\u00e9phalopathie aigue hyper-ammoni\u00e9mique.\nConclusion\u00a0: Dans cette s\u00e9rie p\u00e9diatrique, il y avait un retard diagnostique et th\u00e9rapeutique de l\u2019IPD qui ...( r\u00e9sum\u00e9 tronqu\u00e9 \u00e0 250 mots)\n\u00a0<\/jats:p>","DOI":"10.62438\/tunismed.v102i5.4792","type":"journal-article","created":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T07:48:12Z","timestamp":1715759292000},"source":"Crossref","is-referenced-by-count":0,"title":["Mutation delTTCT 1471 de l\u2019intol\u00e9rance aux prot\u00e9ines dibasiques : Caract\u00e9ristiques cliniques d\u2019une s\u00e9rie p\u00e9diatrique tunisienne."],"prefix":"10.62438","volume":"102","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1101-5024","authenticated-orcid":false,"given":"Elhem","family":"Jbebli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yosra","family":"Jbeli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rym","family":"Amdouni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rim","family":"Ben Abdelaziz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9la","family":"Boudabous","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amel","family":"Ben Chehida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Slim","family":"Abdelmoula","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31112","published-online":{"date-parts":[[2024,5,12]]},"container-title":["La Tunisie M\u00e9dicale"],"original-title":[],"deposited":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T07:48:13Z","timestamp":1715759293000},"score":1,"resource":{"primary":{"URL":"https:\/\/latunisiemedicale.com\/index.php\/tunismed\/article\/view\/4792"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,12]]},"references-count":0,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,5,12]]}},"URL":"https:\/\/doi.org\/10.62438\/tunismed.v102i5.4792","relation":{},"ISSN":["2724-7031","0041-4131"],"issn-type":[{"type":"electronic","value":"2724-7031"},{"type":"print","value":"0041-4131"}],"subject":[],"published":{"date-parts":[[2024,5,12]]}}}