Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance

We report a fetus with heterogeneous colonic content, an isolated sonographic prenatal sign of lysinuric protein intolerance, a very rare metabolic disease. Familial genetic enquiries confirmed heterozygote mutation in the implicated gene in parents. The prenatal diagnosis led to neonatal dietary ad...

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Autores principales: Dimitriou, Christos, Saliba, Souha, Peyrassol, Xavier, Ben Abbou, Wafa, Nassogne, Marie Cécile, Neugroschl, Carine, Wiame, Elsa, De Leener, Anne, Cassart, Marie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303845/
https://www.ncbi.nlm.nih.gov/pubmed/32577254
http://dx.doi.org/10.1002/ccr3.2780
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author Dimitriou, Christos
Saliba, Souha
Peyrassol, Xavier
Ben Abbou, Wafa
Nassogne, Marie Cécile
Neugroschl, Carine
Wiame, Elsa
De Leener, Anne
Cassart, Marie
author_facet Dimitriou, Christos
Saliba, Souha
Peyrassol, Xavier
Ben Abbou, Wafa
Nassogne, Marie Cécile
Neugroschl, Carine
Wiame, Elsa
De Leener, Anne
Cassart, Marie
author_sort Dimitriou, Christos
collection PubMed
description We report a fetus with heterogeneous colonic content, an isolated sonographic prenatal sign of lysinuric protein intolerance, a very rare metabolic disease. Familial genetic enquiries confirmed heterozygote mutation in the implicated gene in parents. The prenatal diagnosis led to neonatal dietary adaptation and avoided acute complications.
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spelling pubmed-73038452020-06-22 Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance Dimitriou, Christos Saliba, Souha Peyrassol, Xavier Ben Abbou, Wafa Nassogne, Marie Cécile Neugroschl, Carine Wiame, Elsa De Leener, Anne Cassart, Marie Clin Case Rep Case Reports We report a fetus with heterogeneous colonic content, an isolated sonographic prenatal sign of lysinuric protein intolerance, a very rare metabolic disease. Familial genetic enquiries confirmed heterozygote mutation in the implicated gene in parents. The prenatal diagnosis led to neonatal dietary adaptation and avoided acute complications. John Wiley and Sons Inc. 2020-03-06 /pmc/articles/PMC7303845/ /pubmed/32577254 http://dx.doi.org/10.1002/ccr3.2780 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Dimitriou, Christos
Saliba, Souha
Peyrassol, Xavier
Ben Abbou, Wafa
Nassogne, Marie Cécile
Neugroschl, Carine
Wiame, Elsa
De Leener, Anne
Cassart, Marie
Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance
title Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance
title_full Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance
title_fullStr Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance
title_full_unstemmed Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance
title_short Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance
title_sort heterogeneous colonic content: a prenatal sonographic manifestation of lysinuric protein intolerance
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303845/
https://www.ncbi.nlm.nih.gov/pubmed/32577254
http://dx.doi.org/10.1002/ccr3.2780
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