Identification of SLC26A3 Mutations in a Korean Patient with Congenital Chloride Diarrhea

Lee, Eunsil; Cho, A-Ra; Ki, Chang‐Seok

doi:10.3343/alm.2012.32.4.312

Cited by 8 publications

(5 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The present patient was heterozygous for c.392C>T and c.2063‐1G>T. c.392C>T heterozygosity was reported in the USA. c.2063‐1G>T heterozygosity was reported in Korea . In Korea, genetic analysis of eight CCD patients was done .…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation

Fuwa

Hosono

Nagano

et al. 2015

Pediatrics International

View full text Add to dashboard Cite

Congenital chloride diarrhea (CCD) beginning in utero is a rare autosomal recessive inherited disorder characterized by impairment of Cl(-) /HCO3 (-) exchange in an otherwise normal distal ileum and colon. Life-long secretory diarrhea is caused by mutations in solute carrier family 26, member 3, (SLC26A3), which disrupt epithelial Cl(-) /HCO3 (-) transport in the ileum and colon. Although 55 mutations in SLC26A3 have been identified throughout the world, few Japanese cases have been confirmed on genetic analysis. We report the successful treatment of a Japanese neonate with CCD caused by SLC26A3 mutation.

show abstract

Section: Discussionmentioning

confidence: 99%

“…c.2063-1G>T heterozygosity was reported in Korea. 8 In Korea, genetic analysis of eight CCD patients was done. 9 Neither of the mutations have not been reported in Japan, therefore it is necessary to carry out genetic analysis of CCD patients in Japan to confirm a diagnosis of CCD.…”

Section: Discussionmentioning

confidence: 99%

Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation

Fuwa

Hosono

Nagano

et al. 2015

Pediatrics International

View full text Add to dashboard Cite

show abstract

“…In Korea, no CLD patient has undergone genetic study, but the first mutational analysis was conducted in 2012. A missense variant (c.525G>C; p.Arg175 Ser) and a splicing mutation (c.2063-1G>T) in the SLC26A3 gene were identified in that patient [ 19 ]. Recently, genetic analysis was performed in eight Korean-origin patients with non-consanguineous parents, and the most common mutation found was c.2063-1G>T [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

Congenital Chloride Diarrhea in Dizygotic Twins

Seo

Lee

Kim

et al. 2013

Pediatr Gastroenterol Hepatol Nutr

View full text Add to dashboard Cite

Congenital chloride diarrhea (CLD) is a rare inherited autosomal recessive disorder. Mutations of the solute carrier family 26 member 3 gene cause profuse, chloride ion rich diarrhea, which results in hypochloremia, hyponatremia and metabolic alkalosis with dehydration. If a fetal ultrasound shows bowel dilatation suggestive of bowel obstruction, or if a neonate shows persistent diarrhea and metabolic alkalosis, CLD should be considered in the differential diagnosis. The severity of CLD varies, but early detection and early therapy can prevent complications including growth failure. We report a case of dizygotic twins affected by CLD who had been born to non-consanguineous parents. Both of them showed growth failure, but one of the twins experienced worse clinical course. He showed developmental delay, along with dehydration and severe electrolyte imbalance. He was diagnosed with CLD first at 6-month age, and then the other one was also diagnosed with CLD.

show abstract

“…Late diagnosis and treatment lead to intractable chronic diarrhea, malnutrition and delayed growth. Although CLD is rare in East Asia, more active efforts for diagnosis are needed in suspicious case in neonate with intractable diarrhea with hypochloremic, metabolic alkalosis 5,6 . And appropriate treatment with sodium and potassium can lead to successful catch‐up growth even though delayed diagnosis.…”

Section: Figurementioning

confidence: 99%