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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
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 (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
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
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
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
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
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 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 (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,
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 (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
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 (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
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