Prenatal ultrasonic findings in congenital chloride diarrhoea

Kirkinen, Pertti; Jouppila, Pentti

doi:10.1002/pd.1970040611

Cited by 39 publications

(26 citation statements)

References 6 publications

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“…Fetal abdominal distension (due to fluid accumulating in their intestine)7 can be considered pathognomonic for CCD, however dilated bowel loops could be present in other diseases like cystic fibrosis or intestinal obstruction. However, in cystic fibrosis, the dilated bowel loops are hyperechoic due to the viscosity of meconium11 and in intestinal obstruction dilated intestinal loops is associated with increased peristalsis in few dilated bowel loops 12…”

Section: Discussionmentioning

confidence: 99%

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Congenital chloride diarrhea: a review of twelve Arabian children

Elrefae¹,

Elhassanien²,

Alghiaty³

2013

CEG

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BackgroundCongenital chloride diarrhea (CCD), a rare autosomal recessive disorder, is characterized by sustained watery diarrhea (due to defect of active Chloride/HCO3 exchange in the ileum and colon) with high fecal chloride.ObjectiveTo spotlight the common presentation of CCD for early management and prevention of complications.Subjects and methodsThis is a retrospective case series study of patients diagnosed as CCD who were followed up in the pediatric department of Al-Adan Hospital, Kuwait.ResultsTwelve patients diagnosed with CCD were born to consanguineous parents; had antenatal history of intrauterine growth retardation (IUGR); polyhydramnios; and distended hypoechoic fetal bowel; and presented with abdominal distension, hypotonia and muscle wasting. 90% of patients had maternal hypertension and 75% of patients had absence of normal meconium at birth. Our patients showed a decrease in serum sodium, potassium, chloride and urine chloride.ConclusionA high level of suspicion for an early diagnosis of CCD should be considered for any infant presenting with chronic diarrhea, especially in the presence of consanguineous marriage, and the characteristic features in antenatal ultrasound. Thus, allowing for early investigations and appropriate management.

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Section: Discussionmentioning

confidence: 99%

“…Most children with CCD are born preterm and their antenatal ultrasound usually reveal polyhydramnios with significant dilatation of the fetal intestinal loops 7. Postnatally, these children exhibit significant abdominal distension, profuse and watery stools, and failure to thrive.…”

Section: Introductionmentioning

confidence: 99%

Congenital chloride diarrhea: a review of twelve Arabian children

Elrefae¹,

Elhassanien²,

Alghiaty³

2013

CEG

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“…Patients are born slightly prematurely because of intrauterine diarrhea [9]. After birth, the persistent intestinal loss of acidic fluid and chloride leads to hypochloremia, metabolic alkalosis, hyponatremia, hypokalemia, and dehydration.…”

Section: Discussionmentioning

confidence: 99%

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

Lee

Cho

2012

Ann Lab Med

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Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with the hallmark of persistent watery Cl--rich diarrhea from birth. Mutations in the solute carrier family 26, member 3 (SLC26A3) gene, which encodes a coupled Cl-/HCO3- exchanger in the ileum and colon, are known to cause CLD. Although there are a few reports of CLD patients in Korea, none of these had been confirmed by genetic analysis. Here, we describe the case of a Korean infant with clinical features of CLD. Using direct sequencing analysis, we identified 2 sequence variants: a missense variant of unknown significance (c.525G>C; p.Arg175 Ser) and a splicing mutation (c.2063-1G>T) in the SLC26A3 gene; these had been inherited from the father and mother, respectively. Whilst CLD is rare, its main symptom, diarrhea, is very common in infants. Hence, the diagnosis of CLD can prove difficult. Mutational analysis of the SLC26A3 gene should be considered as a viable method to confirm a diagnosis of CLD in Korean infants with persistent diarrhea.

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“…Chronic hypovolaemia and hypokalaemia will result in renal tubular dysfunction in some of these children. Children with CCD are at increased risk of developing volvulus postnatally, a complication that may occur at any age from 2 days to 15 years 6. If the diagnosis is made early and treatment is given adequately, children with CCD can achieve normal physical growth and mental development.…”

Section: Discussionmentioning

confidence: 99%

A newborn with watery diarrhoea

Zaki

Gallad²,

Ramadan

et al. 1999

Postgraduate Medical Journal

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A 35-year-old woman was referred to hospital at 32 weeks gestation because her uterus was large for date. Ultrasound examination done at that time is shown in the figure. At 34 weeks gestation, she gave birth to a baby boy weighing 2.2 kg, who had significant abdominal distension at birth. There was no vomiting. He did not pass meconium but after per rectum examination a large amount of light yellow watery stool was passed, followed by some relief of his abdominal distension. He continued to pass this type of stool. Blood laboratory tests at the age of 2 weeks showed a serum sodium of 131 mmol/l, potassium 3.1 mmol/l, chloride 91 mmol/l and bicarbonate 31 mmol/l. The family had an elder son who had had chronic diarrhoea since birth. Questions1 What does the sonogram show? 2 What is the most likely diagnosis? 3 How can the diagnosis be confirmed?

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Prenatal ultrasonic findings in congenital chloride diarrhoea

Cited by 39 publications

References 6 publications

Congenital chloride diarrhea: a review of twelve Arabian children

Congenital chloride diarrhea: a review of twelve Arabian children

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

A newborn with watery diarrhoea

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