Grossesse en de cas maladies métaboliques à expression hépatique : quels risques pour la mère et l’enfant ? (notice n° 83625)
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| fixed length control field | 03364cam a2200409 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250112000323.0 |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | fre |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 100 10 - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Moreau, Caroline |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | Grossesse en de cas maladies métaboliques à expression hépatique : quels risques pour la mère et l’enfant ? |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2019.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 88 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | RésuméLes maladies héréditaires du métabolisme (MHM) sont des maladies rares causées par des mutations situées au niveau de gènes codant des enzymes ou des transporteurs. Le déficit qualitatif ou quantitatif de la protéine entraîne une accumulation des métabolites précurseurs et un défaut des produits en aval du point de blocage. Chez les patientes atteintes de MHM, la grossesse est un état susceptible de favoriser une décompensation métabolique. Dans cette revue, nous présentons les atteintes hépatiques décrites au cours de la grossesse dans un contexte de MHM à expression hépatique. Nous détaillons particulièrement les anomalies cliniques et biologiques spécifiquement observées dans la tyrosinémie de type I, la maladie de Wilson et les principaux déficits du cycle de l’urée. En cas de MHM à expression hépatique, selon le déficit, il existe un risque accru de pré-éclampsie et de HELLP syndrome, ainsi que des épisodes d’hyperammoniémie. Une concertation multidisciplinaire est indispensable pour une prise en charge optimale de la femme enceinte atteinte de MHM aussi bien que du nouveau-né à la naissance. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Inborn errors of metabolism (IEM) are rare diseases caused by mutations in genes encoding enzymes or carriers. Qualitative or quantitative protein deficiency induces both an accumulation of precursor metabolites and a lack of products downstream of the blockade. Pregnancy in patients with IEM is a condition likely to promote metabolic decompensation. In this review, we presented liver symptoms described during pregnancy in a context of hepatic IEM. In particular, we detailed clinical and biological abnormalities specifically occurring in tyrosinemia type I, Wilson disease, and main urea cycle defects. In the case of hepatic IEM, depending on the deficit, pregnant women have an increased risk of pre-eclampsia and HELLP syndrome, as well as hyperammonemia. Wilson disease, and principal urea cycle defects. Multidisciplinary consultation is essential for the optimal management of pregnant women with IEM as well as newborns. |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | maladie métabolique |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | hyperammoniémie |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | HELLP syndrome |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | foie |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | grossesse |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | pré-éclampsie |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | pregnancy |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | metabolic disease |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | hyperammonemia |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | pre-eclampsia |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | HELLP syndrome |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | liver |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joueidi, Yolaine |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peoc’h, Katell |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bardou-Jacquet, Edouard |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Le Lous, Maela |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bendavid, Claude |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lavoué, Vincent |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Damaj, Lena |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dessein, Anne-Frédérique |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Annales de Biologie Clinique | 77 | 6 | 2019-12-01 | p. 605-618 | 0003-3898 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/revue-annales-de-biologie-clinique-2019-6-page-605?lang=fr">https://shs.cairn.info/revue-annales-de-biologie-clinique-2019-6-page-605?lang=fr</a> |
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