Congenital chloride diarrhea: antenatal ultrasonographic findings in siblings.

Kim, S H

doi:10.7863/jum.2001.20.10.1133

Cited by 15 publications

(10 citation statements)

References 6 publications

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“…While fetal ultrasound imaging is paramount as a first‐line examination for screening and exploring bowel disorders9, 10, the prenatal signs of congenital diarrhea are non‐specific on ultrasound. Several cases have been described in the literature and the symptoms are usually detected at 26–28 weeks' gestation9, 11 for chloride diarrhea.…”

Section: Discussionmentioning

confidence: 99%

Magnetic resonance imaging in the prenatal diagnosis of congenital diarrhea

Colombani

Ferry²,

Toga

et al. 2010

Ultrasound in Obstet & Gyne

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Section: Discussionmentioning

confidence: 99%

Magnetic resonance imaging in the prenatal diagnosis of congenital diarrhea

Colombani

Ferry²,

Toga

et al. 2010

Ultrasound in Obstet & Gyne

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“…We conclude that in a suitable clinical setting of consanguity, polyhydramnios, premature births and history of watery diarrhoea in a sibling, antenatal ultrasonography must be done, with particular attention to dilatation of the bowel loops,12 especially if accompanied by polyhydramnios, so that fecal chloride testing is done at birth to confirm diagnosis of CCD and to start replacement therapy. This will prevent long-term sequelae and avoid other extensive workups for diarrhoea, decrease cost of management and improve the quality of life of the neonate.…”

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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“…These abnormalities are visible in ultrasonic investigation Figure 4, even at the end of the second trimester [28,29].…”

Section: Clinical Presentation Antenatallymentioning

confidence: 99%