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

• Published in: The journal of obstetrics and gynaecology research Vol. 45; no. 11; pp. 2280 - 2283
• Main Authors: Wu, Siqi, Han, Jin, Zhang, Yongling, Ye, Zhichao, Lu, Ping, Tian, Kege
• Format: Journal Article
• Language: English
• Published: Kyoto, Japan John Wiley & Sons Australia, Ltd 01.11.2019; Wiley Subscription Services, Inc
• Subjects: Adult; Alkalosis; Amniotic fluid; Case Report; Case Reports; Chloride-Bicarbonate Antiporters - genetics; Chlorides; congenital chloride diarrhea (CCD); Dehydration; Diarrhea; Diarrhea - congenital; Diarrhea - diagnosis; Diarrhea - embryology; Diarrhea - genetics; DNA sequencing; Female; Fetuses; Genetic screening; Hereditary diseases; Humans; Hypokalemia; Hyponatremia; Intestine; Metabolism, Inborn Errors - diagnosis; Metabolism, Inborn Errors - embryology; Metabolism, Inborn Errors - genetics; Mutation; Neonates; Polyhydramnios - diagnosis; Polyhydramnios - genetics; Pregnancy; Prenatal development; Prenatal diagnosis; Prenatal Diagnosis - methods; Recurrence; Solute Carrier Family 26, Member 3 (SLC26A3); Sulfate Transporters - genetics; Ultrasonic imaging; Ultrasound; prenatal diagnosis; Solute Carrier Family 26, Member 3 (SLC26A3); congenital chloride diarrhea (CCD)
• ISSN: 1341-8076; 1447-0756; 1447-0756
• DOI: 10.1111/jog.14089

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.