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

Konishi, Ken-Ichiro; Mizuochi, Tatsuki; Yanagi, Tadahiro; Watanabe, Yoriko; Ohkubo, Kei; Ohga, Shouichi; Maruyama, Hidehiko; Takeuchi, Ichiro; Sekine, Yuji; Masuda, Kenta; Kikuchi, Nobuyuki; Yotsumoto, Yuka; Ohtsuka, Yasufumi; Tanaka, Hidenori; Kudo, Toshifumi; Noguchi, Atsuko; Fuwa, Kazumasa; Mushiake, Sotaro; Ida, Shinobu; Fujishiro, Jun; Yamashita, Yushiro; Taguchi, Tomoaki; Yamamoto, Ken

doi:10.1016/j.jpeds.2019.07.039

Cited by 17 publications

(25 citation statements)

References 33 publications

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“…The patient showed compound heterozygosity for the SLC26A3 variants c.888 + 1g>a and c.2143G > A. The c.888 + 1g>a variant has been previously reported from Japan 1 . The c.2143G > A variant was not registered previously in genomic databases, including the University of California, Santa Cruz Genome Bioinformatics website (http://genome.ucsc.edu/index.html), the Human Genetic Variation Database (http://www.hgvd.genome.med.kyoto-u.ac.jp/), and the Human Gene Mutation Database (http://www.hgmd.org/).…”

Section: Figmentioning

confidence: 61%

“…Genetic analysis of SLC26A3 is important for a definitive diagnosis of CCD. SLC26A3 mutations usually can be identified in Japanese CCD patients (93%) 1 . The patient showed compound heterozygosity for the SLC26A3 variants c.888 + 1g>a and c.2143G > A.…”

Section: Figmentioning

confidence: 97%

“…Congenital chloride diarrhea (CCD; MIM#214700), an uncommon autosomal recessive disease, results from mutations in the solute carrier family 26 member 3 ( SLC26A3 ) gene encoding an intestinal Na + ‐independent Cl ‐ /HCO3 ‐ exchanger. Recently, 13 Japanese CCD patients with SLC26A3 mutations were described in a nationwide survey 1 . In utero , the mutations cause polyhydramnios and bowel dilation.…”

Section: Figmentioning

confidence: 99%

“…CCD is diagnosed based upon watery diarrhea beginning soon after birth and containing excessive chloride. Untreated CCD leads to early death from impaired renal function and end‐stage renal disease, while prompt oral electrolyte replacement with sodium chloride (NaCl) and potassium chloride (KCl) permits normal growth and development as well as favorable long‐term outcomes 1 . We report a new causative mutation in a Japanese girl suspected to have CCD based upon fetal magnetic resonance imaging (MRI) findings and biochemical abnormalities in amniotic fluid.…”

Section: Figmentioning

confidence: 99%

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Congenital chloride diarrhea in a Japanese neonate with a novel SLC26A3 mutation

Konishi

Mizuochi

Takeuchi

et al. 2020

Pediatrics International

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Section: Figmentioning

confidence: 61%

Section: Figmentioning

confidence: 97%

Section: Figmentioning

confidence: 99%

Section: Figmentioning

confidence: 99%

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Congenital chloride diarrhea in a Japanese neonate with a novel SLC26A3 mutation

Konishi

Mizuochi

Takeuchi

et al. 2020

Pediatrics International

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“…Abdominal radiography ruled out intestinal obstruction. On the second day of life, he was diagnosed with CCD based on frequent watery diarrhea beginning soon after birth and high fecal chloride (Konishi et al, 2019; Wedenoja et al, 2010). Intravenous and oral replacement therapy with NaCl and KCl was administered.…”

Section: Methodsmentioning

confidence: 99%

A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate

Konishi

Mizuochi

Honma

et al. 2020

Molec Gen & Gen Med

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Congenital chloride (Cl) diarrhea (CCD; MIM# 214700) is characterized by persistent Cl-rich diarrhea evident from birth. Intrauterine abnormalities such as polyhydramnios, dilated bowel loops, and absence of meconium can simulate intestinal obstruction, resulting in unnecessary surgical exploration. Soon after birth, the profuse diarrhea can be complicated by dehydration, hypochloremia, hypokalemia, metabolic alkalosis, and failure to thrive. Diagnosis of CCD is based upon watery diarrhea that begins soon after birth and contains excessive fecal chloride. Untreated CCD

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Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases

et al. 2021

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Objective: Congenital diarrheal disorders (CDDs) are a group of rare diseases among which some present as inherited disorders of intestinal electrolyte transportation: congenital chloride diarrhea (CCD) and congenital sodium diarrhea (CSD) with prenatal manifestations, mainly polyhydramnios, leading to premature delivery. Affected neonates present with watery stools, sometimes mistaken as urine, leading to a misdiagnosis of Bartter syndrome. The aim of this study was to study the value of a prenatal biochemical pattern in the case of suspected CDD. Methods: We retrospectively studied 12 amniotic fluids of CDD-affected fetuses prenatally suspected and confirmed after birth. Digestive enzymes, proteins, and electrolytes were assayed and showed abnormal biochemical patterns. Results: The 12 infants (eight CCD-and four CSD-affected) were born prematurely with a normal birth weight. Electrolytes and the Bartter index were normal for all cases. Amniotic fluid enzyme patterns were abnormal: anal leakage for nine, as expected, but vomiting of bile was observed for three infants, for whom an occlusive syndrome required surgery, and thereafter severe complications appeared with a poor prognosis. Conclusion: Amniotic fluid biochemical patterns differentiate CDD from Bartter syndrome. If a vomiting bile pattern is observed, postnatal management should take into account the hypothesis of a most severe complication. Key Points What's already known about this topic? � Congenital diarrheal disorders (CDDs) are a group of rare diseases that include CCD and CSD with perinatal manifestations as polyhydramnios, premature delivery and watery stools needing adapted neonatal care What does this study add? � This study shows the value of an amniotic fluid biochemical pattern in differentiating CDD from Bartter syndrome for adapting postnatal management. A vomiting biochemical pattern is also a sign of potential most severe complication 434-Prenatal Diagnosis.

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

Cited by 17 publications

References 33 publications

Congenital chloride diarrhea in a Japanese neonate with a novel SLC26A3 mutation

Congenital chloride diarrhea in a Japanese neonate with a novel SLC26A3 mutation

A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate

Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases

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