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Prenatal diagnosis and management of congenital chloride diarrhea: A case report of 2 siblings.
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Congenital chloride diarrhea (CLD) is a rare hereditary disease. The basic defect of CLD is massive loss of Cl(-) and fluid into the ileum and colon. Prenatal diagnosis of this disease is quite important because the infant requires electrolyte supplementation from the early postnatal period. Two
Misdiagnosis of congenital chloride-losing diarrhea.
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Congenital chloride-losing diarrhea is a recessively inherited disorder due to the absence of chloride-bicarbonate exchange in the small bowel. Malabsorption of chloride leads to osmotic diarrhea, electrolyte abnormalities, and dehydration. If left untreated, the infants fail to thrive and have a
Congenital chloride diarrhea: A single center experience with ten patients.
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Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder characterized by life-long watery diarrhea with a high fecal chloride concentration. We report the clinical and laboratory data in 20 Saudi infants with CCD admitted to our center between January 1986 and December 1991. In
Nucleotide sequence of the Na+/H+ exchanger-8 in patients with congenital sodium diarrhea.
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Sodium absorption by the intestine is mediated by brush border Na/H exchangers, which include the NHE3 and NHE8 isoforms. We demonstrated a maturational decrease in NHE8 and increase in NHE3 in mouse intestine mRNA abundance and brush border membrane protein abundance, indicating a developmental
Prenatal presentation of congenital chloride diarrhea: clinical report and review of the literature.
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A case of congenital chloride diarrhea was diagnosed after delivery in a patient whose antenatal course was notable for massively dilated small and large bowel and persistent, severe hydramnios refractory to therapy. The pathophysiologic mechanism is a dysfunctional chloride-bicarbonate exchange in
Magnetic resonance imaging in the prenatal diagnosis of congenital diarrhea.
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OBJECTIVE
Congenital diarrhea is very rare, and postnatal diagnosis is often made once the condition has caused potentially lethal fluid loss and electrolyte disorders. Prenatal detection is important to improve the immediate neonatal prognosis. We aimed to describe the prenatal ultrasound and
Three cases of a rare disease, congenital chloride diarrhea, summons up the variation in the clinical course and significance of early diagnosis and adequate treatment in the prevention of intellectual disability.
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Congenital chloride diarrhea (CLD) (OMIM #214700) is a rare, autosomal recessive disease that is characterized by increased chloride loss in stool. As a result of electrolyte loss, surviving patients might have some complications, one of them being mental retardation. Here, we present three new
False diagnosis of intestinal obstruction in a fetus with congenital chloride diarrhea.
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Intestinal obstruction is often diagnosed prenatally by ultrasound, providing an opportunity for prenatal counseling, genetic investigation, and planned delivery at a perinatal center. We describe a patient with typical features of fetal bowel obstruction, who was found at birth to have congenital
[Congenital chloride diarrhea mimicking meconium ileus in newborn].
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Congenital chloride diarrhoea is a rare autosomal recessive disease and the diagnosis is frequently delayed. The disease is most common in Saudi Arabia and Kuwait 1:3200-13 000 births, Finland - 1:30 000-40 000, and in Poland - 1:200 000. Congenital chloride diarrhoea begins in fetal life. The main
Congenital chloride diarrhea in a child.
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Congenital chloride diarrhea (CLD) is a rare autosomal recessive disease characterized by persistent, lifelong, watery diarrhea with high fecal chloride concentration. It results from a defect of the bicarbonate/chloride exchange system in the distal ileum and colon. Polyhydramnios, premature birth,
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea.
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BACKGROUND
Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. Sometimes a few status may be nested, as in our case presented here.
METHODS
An 8-month-old boy was referred to our hospital with of intractable diarrhea, polyuria, persistent hypokalemia,
[Congenital chloride diarrhea].
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Congenital chloride diarrhea (CCD) is a rare hereditary disease, with a prenatal onset, secondary to a deficit in the intestinal chloride transport. In the present study, we describe the clinical characteristics of three patients with congenital watery diarrhea, two of them females, aged between 9
Congenital chloride diarrhea: a review of twelve Arabian children.
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BACKGROUND
Congenital 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.
OBJECTIVE
To spotlight the common presentation of CCD for early
Congenital chloride diarrhea. A study in Arab children.
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Congenital chloride diarrhea (CCD) is a common metabolic disorder in Saudi children with an incidence of 1 in 5,500. The present retrospective study from Saudi Arabia, over 7.5 years, presents the clinical, biochemical, and treatment details in 10 children with CCD. The perinatal characteristics of
Congenital sodium diarrhea with a partial defect in jejunal brush border membrane sodium transport, normal rectal transport, and resolving diarrhea.
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Defective jejunal sodium/proton exchange causes severe, congenital secretory diarrhea. We report a boy who presented typically in utero, but in whom diarrhea resolved during the first year of life. Pregnancy was complicated by polyhydramnios, and an ultrasound at 31 weeks showed a distended fetal
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