Prenatal diagnosis and management of congenital chloride diarrhea: A case report of 2 siblings

Abstract

Congenital chloride diarrhea (CLD) is a rare hereditary disease. The basic defect of CLD is massive loss of Cl(-) and fluid into the ileum and colon. Prenatal diagnosis of this disease is quite important because the infant requires electrolyte supplementation from the early postnatal period. Two cases in which prenatal diagnoses of CLD were made in siblings are reported. Extreme electrolyte imbalance may cause fetal cardiac dysfunction or a poor general condition leading to a non-reassuring fetal status in cases with CLD. Therefore, frequent fetal monitoring using cardiotocograms and ultrasound may be beneficial to some fetuses with CLD to detect fetal deterioration. In addition, repeated amnioreduction may be required to treat severe polyhydramnios and threatened preterm delivery.

Surgical consequences in infants with delayed diagnosis of congenital chloride diarrhea

“…Of note, if IO is suspected, some of the bowel loops would be dilated, as the obstruction is most often proximal to the ileum (10). Moreover, amniocentesis will show high concentrations of gamma-glutamyl transpeptidase and alkaline phosphatase secreted by the ileum in CCD patients (11). Therefore, antenatal findings may have a role in the early CCD diagnosis.…”

Congenital Chloride Losing Diarrhea

“…These abnormalities are visible in ultrasonic investigation Figure 4, even at the end of the second trimester [28,29].…”

Congenital Chloride Diarrhea: Accurate Prenatal Diagnosis Using Color Doppler Sonography to Show the Passage of Diarrhea

“…Congenital chloride diarrhea begins in fetal life, and previous case reports have described in utero sonographic findings, including polyhydramnios and multiple distended bowel loops. [1][2][3][4][5][6][7] Although characteristic of congenital chloride diarrhea, these findings can also be observed in fetal smallbowel obstruction, making it difficult to arrive at a definitive diagnosis during fetal life. Generalized bowel dilatation and normal peristalsis may suggest the diagnosis of congenital chloride diarrhea over bowel obstruction, but these findings are subjective.…”

“…Previous case reports have described prenatal diagnosis in patients with congenital chloride diarrhea who had polyhydramnios and multiple distended bowel loops. [1][2][3][4][5][6][7] However, these findings can also be observed in surgically treatable conditions such as small-bowel obstruction; therefore, congenital chloride diarrhea is frequently misdiagnosed. Langer et al 9 advocate assessing the degree of peristalsis of the dilated bowel as a means of differentiating between obstruction and congenital chloride diarrhea: intestinal peristalsis is increased in bowel obstruction, whereas normal peristalsis is more suggestive of congenital chloride diarrhea.…”

“…A family history may be helpful, as congenital chloride diarrhea is an autosomal recessive disorder, and some researchers have described siblings with the condition. 1,3 However, most previously reported patients had no affected family members. Although elevated bilirubin, alkaline phosphatase, and γ-glutamyl transferase levels in the amniotic fluid may suggest the diagnosis of congenital chloride diarrhea, 6,8 these findings are nonspecific for the disease and cannot always be used to differentiate congenital chloride diarrhea from small-bowel obstruction.…”