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

Abstract

Congenital chloride diarrhea (CCD) is an autosomal recessive hereditary disease manifested by persistent, watery, profuse diarrhea with high chloride concentration (>90 mmol/L). Postnatally, neonates suffer from hypochloremia, hyponatremia, hypokalemia, metabolic alkalosis, dehydration, developmental retardation, or even death. Prenatal diagnosis is of great importance for the prognosis of CCD. We report a prenatal recurrent case of CCD. Prenatal ultrasound revealed fetal diffuse intestinal dilation with the typical honeycomb sign and polyhydramnios with high amniotic fluid index. The whole exome capture and massively‐parallel DNA sequencing showed an abnormal mutation of Solute Carrier Family 26, Member 3 (SLC26A3), c.1039G>A (p.Ala347Thr), and the mutation sites were verified by sanger sequencing. When prenatal ultrasound shows polyhydramnios and diffuse intestinal dilation, CCD should be suspected. Molecular genetic testing can be helpful for the diagnosis.

Fetal intestinal loop dilatation: Follow‐up and outcome of a series of 133 consecutive cases (the DILDIG study)

“…Because drainage of amniotic fluid is needed in most cases, this can be the opportunity to perform a biochemical analysis of digestive enzymes and electrolytes in the amniotic fluid and a genetic analysis to confirm the diagnosis. 31 Regression in bowel loop dilatations between two US scans was a factor of good prognosis (100% positive predictive value of healthy outcome in the 25 cases of regression), thus confirming previous studies. 6,[15][16][17][18][19][20][21][22] MANGIONE ET AL.…”

“…and Amino et al., 30 this typical prenatal appearance was observed in one of our cases in which the infant presented no anomaly at birth. Because drainage of amniotic fluid is needed in most cases, this can be the opportunity to perform a biochemical analysis of digestive enzymes and electrolytes in the amniotic fluid and a genetic analysis to confirm the diagnosis 31 …”

Diagnóstico prenatal de clorhidrorrea congénita: reporte de caso

“…El tracto gastrointestinal fetal normal tiene ciertas características en la RM; se pueden observar diferentes signos fisiológicos en cada edad gestacional. 6 En un feto normal, a las 18 semanas de gestación, ya se observan diferencias en los signos fisiológicos entre el líquido amniótico y el meconio. A las 20 semanas se detectan señales hiperintensas en T1W e hipointensas en T2W debidas a la presencia t e m p r a n a d e m e c o n i o .…”

Prenatal diagnosis of congenital chloride diarrhea: A case report

“…Normal fetal gastrointestinal tract has certain characteristics on MRI, and different physiological signals can be observed at different gestational weeks. 6 In normal fetuses at 18 weeks of gestation, there is already a difference in physiological signal difference between amniotic fluid and intestinal meconium. At 20 weeks, high signals are detected on T1W and low signals on T2W, due to the early presence of meconium.…”