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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| Format: | Article |
| Language: | English |
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Elsevier
2025-03-01
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| Series: | Radiology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043324013876 |
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| author | Mesfin Ayalew Tsegaye, MD Abel Benti Abchale, MD Alemayehu Nigusssie Adugna, MD |
| author_facet | Mesfin Ayalew Tsegaye, MD Abel Benti Abchale, MD Alemayehu Nigusssie Adugna, MD |
| author_sort | Mesfin Ayalew Tsegaye, MD |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-5cbd56e2732e4dd78a19bfb4c8b45d2d |
| institution | Kabale University |
| issn | 1930-0433 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj-art-5cbd56e2732e4dd78a19bfb4c8b45d2d2025-01-18T05:04:09ZengElsevierRadiology Case Reports1930-04332025-03-0120316431645Prenatally suspected and clinically diagnosed congenital chloride diarrheaMesfin Ayalew Tsegaye, MD0Abel Benti Abchale, MD1Alemayehu Nigusssie Adugna, MD2Corresponding author.; Dilla University, College of Medicine and Health Sciences, Department of Obstetrics and Gynecology, Dilla, EthiopiaDilla University, College of Medicine and Health Sciences, Department of Obstetrics and Gynecology, Dilla, EthiopiaDilla University, College of Medicine and Health Sciences, Department of Obstetrics and Gynecology, Dilla, EthiopiaCongenital 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.http://www.sciencedirect.com/science/article/pii/S1930043324013876PolyhydramniosChlorideDiarrheaCongenital |
| spellingShingle | Mesfin Ayalew Tsegaye, MD Abel Benti Abchale, MD Alemayehu Nigusssie Adugna, MD Prenatally suspected and clinically diagnosed congenital chloride diarrhea Radiology Case Reports Polyhydramnios Chloride Diarrhea Congenital |
| title | Prenatally suspected and clinically diagnosed congenital chloride diarrhea |
| title_full | Prenatally suspected and clinically diagnosed congenital chloride diarrhea |
| title_fullStr | Prenatally suspected and clinically diagnosed congenital chloride diarrhea |
| title_full_unstemmed | Prenatally suspected and clinically diagnosed congenital chloride diarrhea |
| title_short | Prenatally suspected and clinically diagnosed congenital chloride diarrhea |
| title_sort | prenatally suspected and clinically diagnosed congenital chloride diarrhea |
| topic | Polyhydramnios Chloride Diarrhea Congenital |
| url | http://www.sciencedirect.com/science/article/pii/S1930043324013876 |
| work_keys_str_mv | AT mesfinayalewtsegayemd prenatallysuspectedandclinicallydiagnosedcongenitalchloridediarrhea AT abelbentiabchalemd prenatallysuspectedandclinicallydiagnosedcongenitalchloridediarrhea AT alemayehunigusssieadugnamd prenatallysuspectedandclinicallydiagnosedcongenitalchloridediarrhea |