Congenital Chloride Diarrhea (CCD): A Case Report of CCD Suspected by Prenatal Ultrasonography and Magnetic Resonance Imaging (MRI)

Abstract

Patient: Male, new bornFinal Diagnosis: Congenital chloride diarrheaSymptoms: DiarrheaMedication: —Clinical Procedure: —Specialty: Obstetrics and GyneolcogyObjective:Congenital defects/diseasesBackground:Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder that is difficult to distinguish from fetal lower intestinal obstruction. A prenatal diagnosis will make a contribution to the prognosis of the newborn.Case Report:We report a rare case of congenital chloride diarrhea (CCD) prenatally suspected by ultrasound and MRI. The prenatal ultrasound revealed signs of intestinal dilatation suggesting lower intestinal obstruction. MRI findings also revealed intestinal dilatation that continued from the rectum. On T1-weighted images, fluid accumulation within the bowel was hypointense. CCD was strongly suspected rather than obstruction of the lower intestinal tract or Hirschsprung’s disease. At 37 weeks and 3 days’ gestation, cesarean section was performed because of fetal distress. The newborn was a 2396 g male with the Apgar scores 8 (1 min) and 9 (5 min). Watery diarrhea subsequently persisted, and on the 3rd day, hyponatremia and hypochloremia were present. The infant stool was hyperchloremic, so we diagnosed CCD.Conclusions:When ultrasonography reveals signs of fetal gastrointestinal dilatation, lower intestinal obstruction is considered first. CCD is infrequent and has signs of intestinal dilatation similar to those of other intestinal ailments, so distinguishing these conditions is difficult. However, if CCD is suspected early, then use of MRI will allow its diagnosis. If the condition is diagnosed before birth, the prognosis of the newborn will improve.

Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea

“…in 1945 as ‘congenital alkalosis with diarrhea’, is an autosomal recessive hereditary disease manifested by persistent, watery, profuse diarrhea with high chloride concentration (>90 mmol/L) . Prenatal ultrasound reveals polyhydramnios caused by intrauterine diarrhea and intestinal dilation that may be difficult to distinguish from congenital intestinal obstruction . Because of the persistent chloride diarrhea, neonatal serum electrolyte examination reveals hypochloremia, hyponatremia, and hypokalemia.…”

Chronic exposure of ErbB TKIs inhibits DRA expression and activity through an ERK/Elk-1/CREB/AP-1 dependent pathway

“…DRA is most abundantly expressed in human colon, and to a less amount in ileum and duodenum (https://www.jrturnerlab.com/Transporter-Images), and is recognized as a major contributor to Cland fluid absorption in the ileum and colon. Malfunctioning mutations in the human DRA (SLC26A3) gene have been etiologically linked to congenital chloride-losing diarrhea (CLD), an autosomal recessive disease featured by excessive chloride-loss in the stool, distention of the large intestine and life-long watery diarrhea (Hoglund et al, 1996;Holmberg et al, 1977;Kawamura & Nishiguchi, 2017). The clinical-pathological presentations of human CLD were successfully recapitulated in a Dra (Slc26a3) gene knockout mouse model, which exhibited similar diarrhea to that in patients with CLD, with decreased serum chloride level, volume depletion, and growth retardation (Schweinfest et al, 2006).…”

<p>Improvement Of Congenital Chloride Diarrhea With Corticosteroids: An Incidental Finding</p>

“…Generalized distention of bowel loops suggest congenital chloride diarrhea because obstructive lesions tend to create localized distention 12. Infants who are diagnosed and treated shortly after birth may be able to develop and grownormally 13…”