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

Hirakawa, Mariko; Hidaka, Noriaki; Kido, Saki; Fukushima, Kotaro; Kato, Kiyoko

doi:10.7863/ultra.15.01011

Cited by 11 publications

(11 citation statements)

References 10 publications

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“…Congenital bowel obstruction occurs in intestinal atresia and several other conditions, which also will appear on prenatal ultrasonography as polyhydramnios and dilated bowels [7]. Therefore, these conditions are all prenatally relevant differential diagnoses [4, 7]. …”

Section: Discussionmentioning

confidence: 99%

“…However, previous case reports have described prenatal diagnosis of CCD using color Doppler sonography to show the passage of diarrhea [4] and with an ultrasound image of the fetal pelvis showing fluid-filled rectum [7]. …”

Section: Discussionmentioning

confidence: 99%

“…The disease can be revealed during pregnancy by intrauterine onset of watery diarrhea, which is visible on in utero sonography as polyhydramnios and dilated bowel loops of the fetus [1, 4]. These characteristics are visible at the end of second trimester, where the distended bowel appears like a honeycomb in the ultrasonic investigation [4].…”

Section: Introductionmentioning

confidence: 99%

“…These characteristics are visible at the end of second trimester, where the distended bowel appears like a honeycomb in the ultrasonic investigation [4]. …”

Section: Introductionmentioning

confidence: 99%

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Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces

Gils

Eckhardt

Nielsen

et al. 2016

Case Reports in Pediatrics

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Background. Congenital chloride diarrhea (CCD) is an autosomal recessive disorder caused by mutations in the genes encoding the intestinal Cl−/HCO3 − exchanger and is clinically characterized by watery, profound diarrhea, electrolyte disturbances, and metabolic alkalosis. The CCD diagnosis is based on the clinical symptoms and measurement of high chloride concentration in feces (>90 mmol/L) and is confirmed by DNA testing. Untreated CCD is lethal, while long-term clinical outcome improves when treated correctly. Case Presentation. A 27-year-old woman had an emergency caesarian due to pain and discomfort in gestational week 36 + 4. The newborn boy had abdominal distension and yellow fluid per rectum. Therapy with intravenous glucose and sodium chloride decreased his stool frequency and improved his clinical condition. A suspicion of congenital chloride diarrhea was strongly supported using blood gas analyzer to measure an increased chloride concentration in the feces; the diagnosis was confirmed by DNA testing. Discussion. Measurement of chloride in feces using an ordinary blood gas analyzer can serve as a preliminary analysis when congenital chloride diarrhea is suspected. This measurement can be easily performed with a watery feces composition. An easy-accessible chloride measurement available will facilitate the diagnostics and support the initial treatment if CCD is suspected.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…These characteristics are visible at the end of second trimester, where the distended bowel appears like a honeycomb in the ultrasonic investigation [4]. …”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces

Gils

Eckhardt

Nielsen

et al. 2016

Case Reports in Pediatrics

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“…Characteristic ultrasound findings of CCD include prominent signs of intestinal dilatation and polyhydramnios, but the condition is often hard to distinguish from others (e.g., meconium peritonitis, lower intestinal obstruction, and Hirschsprung’s disease) [9–12]. With CCD, the Cl level in amniotic fluid rises, but this does not provide a definitive diagnosis [13].…”

Section: Introductionmentioning

confidence: 99%

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

Kawamura

Nishiguchi

2017

Am J Case Rep

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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.

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Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan

Konishi

Mizuochi

Yanagi

et al. 2019

The Journal of Pediatrics

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

Cited by 11 publications

References 10 publications

Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces

Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces

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

Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan

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