Prenatally suspected and clinically diagnosed congenital chloride diarrhea
Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder resulting from mutations in the SLC26A3 gene, leading to significant electrolyte imbalances and watery diarrhea starting in the prenatal period. Although prenatal diagnosis is ideal, many cases are identified postnatally. This...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-03-01
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| Series: | Radiology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043324013876 |
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| Summary: | Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder resulting from mutations in the SLC26A3 gene, leading to significant electrolyte imbalances and watery diarrhea starting in the prenatal period. Although prenatal diagnosis is ideal, many cases are identified postnatally. This case report details an 18-year-old primigravid lady in her third trimester who presented with severe polyhydramnios and fetal bowel dilation observed via ultrasound. The report underscores the necessity of maintaining a high index of suspicion for CCD during prenatal evaluations and emphasizes the importance of clinical diagnosis in resource-limited settings. |
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| ISSN: | 1930-0433 |