Antenatal differential diagnosis of congenital chloride diarrhea: a case report

The Journal of Obstetrics and Gynaecology Research
Dae Hyung Lee, Yoon Ki Park

Abstract

Congenital chloride diarrhea (CCD) is a rare disease characterized by profound, watery diarrhea. It is inherited as an autosomal recessive trait and is caused by a dysfunction of electrolyte transport in the brush border of the ileum. CCD is a medically treatable condition but is frequently misdiagnosed as a surgically treatable condition, such as bowel obstruction, because of similar antenatal ultrasonographic findings. Therefore, a correct diagnosis is of upmost importance before treatment initiation. Although some methods for antenatal differential diagnosis were reported, antenatal diagnosis of CCD remains difficult. Here, we report the case of a patient with CCD, which was presumed antenatally and confirmed postnatally. We also discuss the results of antenatal ultrasonography and amniocentesis and provide some tips regarding ultrasonographic findings for the antenatal differential diagnosis of CCD. Further, we present a brief literature review.

References

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Citations

Oct 9, 2015·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Mariko HirakawaKiyoko Kato
Jun 1, 2018·Journal of Human Genetics·Natsuki MatsunoshitaKazumoto Iijima
Nov 12, 2020·Pediatric Research·Lavinia Di MeglioRoberto Berni Canani

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