Congenital Chloride Diarrhea – Novel Mutation in SLC26A3 Gene

Bhardwaj, Swati; Pandit, Deepti; Sinha, Aditi; Hari, Pankaj; Cheong, Hae Il; Bagga, Arvind

doi:10.1007/s12098-015-1944-7

Cited by 10 publications

(8 citation statements)

References 6 publications

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“…Overall, laboratory findings of CCD will include hyponatremia, hypochloremia, metabolic alkalosis, and hypokalemia [1]. Clinically, the children can present with large amount of watery diarrhea, lack of meconium, weight loss, distended abdomen, and pain [1, 3]. The treatment of CCD includes life-long oral replacement of the fecal loss of Na + , K + , Cl − , and water [1].…”

Section: Introductionmentioning

confidence: 99%

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: Introductionmentioning

confidence: 99%

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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“…Early diagnosis and sufficient salt substitution therapy with potassium chloride and sodium chloride are the cornerstone of management and allow normal growth and development. 4 Reduced severity of diarrheal episodes and diarrhea‐associated infant mortality have been observed in patients supplemented with vitamin A. 5 Proton pump inhibitors (PPIs) namely omeprazole, effectively reduce the severity of CCD in certain cases.…”

Section: Discussionmentioning

confidence: 99%

Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea

Lyu

Huang

Chen

et al. 2021

Clinical Laboratory Analysis

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Background The main symptoms of congenital chloride diarrhea (CCD) main symptoms are watery diarrhea, hypochloremia, and hypokalemic metabolic alkalosis. Silver–Russell syndrome (SRS) is a heterogeneous imprinting disorder characterized by severe intrauterine retardation, poor postnatal growth, and facial dysmorphism. Methods Parent‐offspring trio whole‐exome sequencing was used to identify the causal variants. Sequencing reads were mapped to the reference of human genome version hg19. Sanger sequencing was performed as a confirmatory experiment. Results The proband was a patient with SRS caused by maternal uniparental disomy 7. The CCD of the proband was caused by homozygous variant c.1515–1 (IVS13) G>A; both mutated alleles were inherited from her mother. Conclusion We report the first clinical case of CCD and SRS occurring together. Patients with milder phenotypes may be difficult to diagnose in early stage, but close monitoring of potential complications is important for identification.

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“…The symptoms and signs frequently overlap with other conditions, such as cystic fibrosis and Bartter syndrome. Clinical history as well as urinary and sweat chloride levels help in the differentiation of these diseases (Table 1) [8–10].…”

Section: Discussionmentioning

confidence: 99%

“…Due to absence of known hotspots in the SLC26A3 gene in the Hungarian population, molecular genetic confirmation of the CCD clinical diagnosis is usually performed by sequencing the entire coding region of the gene. Most of the known mutations are point mutations or small deletions, many of which affect exon 3–6 and 12–15 [10]. In populations in which founder effects have been observed (Finland, Poland, Saudi Arabia and Kuwait), single-mutation analysis of the typical founder mutation is the first test performed [4].…”

Section: Discussionmentioning

confidence: 99%

Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report

et al. 2019

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BackgroundCongenital chloride diarrhea (CCD, OMIM 214700) is a rare autosomal recessively inherited condition characterized by watery diarrhea, hypochloremia and metabolic alkalosis. Mutations of the solute carrier family 26, member 3 (SLC26A3, OMIM 126650) gene are responsible for the disease. The gene encodes a transmembrane protein, which is essential for intestinal chloride absorption.Case presentationHere we report a Hungarian boy, presenting the clinical phenotype of CCD. The patient born at 32 weeks of gestation and underwent surgery for abdominal distension and intestinal obstruction related to malrotation. After recovery, electrolyte replacement therapy was necessary due to several periods of diarrhea. After exclusion of other possible causes, increased chloride concentration in the feces supported the diagnosis of CCD. The diagnosis was confirmed by molecular genetic testing. Direct sequencing revealed compound-heterozygosity for a frameshift mutation c.1295delT (p.Leu432Argfs*11) and the known Polish founder mutation c.2024_2026dupTCA (p.Ile675_Arg676insLeu).ConclusionsHere we present the clinical symptoms of the first patient in Hungary diagnosed with CCD. Based on the clinical symptoms, stool analysis and genetic testing, the diagnosis of CCD was established. Our study provides expansion for the mutation spectrum of the SLC26A3 gene and the genetic background of CCD.

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Congenital Chloride Diarrhea – Novel Mutation in SLC26A3 Gene

Cited by 10 publications

References 6 publications

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

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

Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea

Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report

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