Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.
enterolithiasis
metabolic disease
prenatal diagnosis
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
21
09
2019
revised:
03
02
2020
accepted:
12
02
2020
entrez:
25
6
2020
pubmed:
25
6
2020
medline:
25
6
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 32577254
doi: 10.1002/ccr3.2780
pii: CCR32780
pmc: PMC7303845
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1010-1014Informations de copyright
© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
None declared.
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