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Prenatal diagnosis of congenital chloride diarrhea: A case report.

Authors :
Cheng Q
Huang C
Source :
Archivos argentinos de pediatria [Arch Argent Pediatr] 2024 Jun 01; Vol. 122 (3), pp. e202310167. Date of Electronic Publication: 2023 Dec 07.
Publication Year :
2024

Abstract

Congenital chloride diarrhea (CCD) is a rare but significant genetic disorder characterized by severe electrolyte imbalances resulting from impaired intestinal chloride absorption. Affected children experience persistent diarrhea, dehydration, and malnutrition, complicating medical and developmental care. The enhancement of prenatal detection is crucial for improved patient management, early interventions, and informed genetic counseling. However, despite advancements in medicine, the complex nature and rarity of CCD make prenatal detection challenging. In this study, we report a fetal case where prenatal magnetic resonance imaging (MRI) effectively identified the distinctive characteristics of CCD, providing insights into the complexities of diagnosis and suggesting avenues for enhanced early detection strategies.<br /> (Sociedad Argentina de Pediatría.)

Details

Language :
English; Spanish; Castilian
ISSN :
1668-3501
Volume :
122
Issue :
3
Database :
MEDLINE
Journal :
Archivos argentinos de pediatria
Publication Type :
Academic Journal
Accession number :
38019900
Full Text :
https://doi.org/10.5546/aap.2023-10167.eng