Congenital Chloride Diarrhea: A Missed Diagnosis in an Adult Patient

Lok, Ka–Ho; Hung, Hiu-Gong; Li, Kin–Kong; Li, Kam-Fu; Szeto, Ming-Leung

doi:10.1111/j.1572-0241.2007.01146.x

Cited by 12 publications

(6 citation statements)

References 5 publications

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“…In such cases, alkaline feces will exclude the possibility of CCD [1, 8]. At our laboratory, pH in feces is measured by use of indicator paper with a reference interval of pH 7-8.…”

Section: Discussionmentioning

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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“…In such cases, alkaline feces will exclude the possibility of CCD [1, 8]. At our laboratory, pH in feces is measured by use of indicator paper with a reference interval of pH 7-8.…”

Section: Discussionmentioning

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 early treatment is essential. As CLD is rare and more than half of patients are found in Finland, Poland and Arab countries, delayed or missed diagnosis is possible in other countries [12]. …”

Section: Discussionmentioning

confidence: 99%

Congenital Chloride Diarrhea in Dizygotic Twins

Seo

Lee

Kim

et al. 2013

Pediatr Gastroenterol Hepatol Nutr

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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.

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“…This predisposes to renal impairment and gout 5. Delay in diagnosis has been reported until adulthood 6. Holmberg reported four patients of end-stage renal failure in cases of congenital chloride diarrhoea leading to dialysis and renal transplantation.…”

Section: Discussionmentioning

confidence: 99%

Congenital cataract and congenital chloride diarrhoea--a unique combination and antenatal diagnosis

Wani

Janhan²,

Hussain³

et al. 2009

Case Reports

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Congenital chloride diarrhoea (CCD) is a serious inherited defect of intestinal electrolyte absorption transmitted in an autosomal recessive way. The molecular pathology involves an epithelial Cl(-)/HCO(3)(-) exchanger protein, encoded by the solute carrier family 26 member 3 gene (SLC26A3) and known DRA (down regulated in adenomas) in the distal ileum and colon. Polyhydramnios, premature birth, ileus without meconium passage, hypochloremia, and hyponatremia are typical features of CCD in the neonate followed by chronic metabolic alkalosis, hypokalemia, hypochloremia, retarded growth and renal impairment in older children and adults if the disease is not adequately treated. Antenatal diagnosis if made on the basis of findings on ultrasonography-a non-invasive diagnostic test-can help in early management of the disorder immediately after birth and, thus, prevent the sequelae. We present an interesting case of CCD diagnosed antenatally and found to have congenital cataract, which is a unique occurrence not reported in literature so far.

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Congenital Chloride Diarrhea: A Missed Diagnosis in an Adult Patient

Cited by 12 publications

References 5 publications

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

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

Congenital Chloride Diarrhea in Dizygotic Twins

Congenital cataract and congenital chloride diarrhoea--a unique combination and antenatal diagnosis

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