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Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea.
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Congenital chloride diarrhea (CLD) is a recessively inherited disorder characterized by massive loss of chloride in stool. We previously identified mutations in the downregulated in adenoma (DRA) gene in patients with CLD and demonstrated that DRA encodes an intestine-specific sulfate transporter.
A novel mutation of the down-regulated in adenoma gene in a Japanese case with congential chloride diarrhea. Mutations in brief no. 198. Online.
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Congenital chloride diarrhea (CLD) is an autosomal recessive disease characterized by excretion of watery stool with a high chloride content. Pathogenesis of CLD is a deficient absorption of chloride in exchange for bicarbonate in the ileum and the colon. In 1996, it was reported that 36 patients
A case report of a giant rectal adenoma causing secretory diarrhea and acute renal failure: McKittrick-Wheelock syndrome.
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BACKGROUND
The McKittrick-Wheelock syndrome is a rare depletion syndrome caused by a secretory villous adenoma or a carcinoma of the rectosigmoid tract. An aggressive hydroelectrolyte rebalancing is often needed, and curative treatment is obtained only with complete removal of the lesion, by
[Villous rectal adenomas and secretory diarrhea].
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Hypersecretion following villous adenomatosis of the rectum is demonstrated by two single case studies. Both patients exhibited a secretory diarrhea with a 2.000-2.500 and 1.000 ml daily stool volume respectively, resulting in severe and life-threatening (first patient) loss of water and
All-trans Retinoic Acid Counteracts Diarrhea and Inhibition of Downregulated in Adenoma Expression in Gut Inflammation.
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Villous adenoma depletion syndrome. Evidence for a cyclic nucleotide-mediated diarrhea.
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Massive secretory diarrhea is associated with some villous adenomas. The mechanism of this secretion is unknown but the character of the diarrhea resembles that of cyclic nucleotide-mediated diarrheas. We have compared the cyclic nucleotide metabolism of a large secretory villous adenoma with a
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.
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An inherited defect in intestinal anion exchange, congenital chloride diarrhea (CLD), was recently shown to be caused by mutations in the down-regulated in adenoma (DRA) gene. A three base pair deletion resulting in the loss of an amino acid valine (V317del) in the predicted CLD/DRA protein was
Prostaglandin E2-mediated secretory diarrhea in villous adenoma of rectum: effect of treatment with indomethacin.
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Biochemical and clinical evidence is presented to indicate that prostaglandin (PG)E2 is the mediator of fluid and electrolyte secretion by villous adenomas of the rectum. A 64-yr-old man with a 2-mo history of mucous diarrhea had, on admission, prerenal uremia, severe hyponatremia, and hypokalemia.
Prerenal uremia induced by severe diarrhea due to colon adenoma: a case of McKittrick-Wheelock syndrome in an elderly patient.
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McKittrick-Wheelock syndrome can be successfully treated by emergent dialysis, prescription of bicarbonate, and endoscopic submucosal dissection, which allow elderly people suffering from this syndrome to maintain their activities of daily living. In patients with this syndrome, a large colonic
Secretory diarrhea in villous adenoma of rectum: effect of treatment with somatostatin and indomethacin.
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The effects of treatment with the synthetic long-acting somatostatin analogue SMS-201-995 were studied in a patient with a fluid and electrolyte secreting villous adenoma of the rectum. The effects of SMS-201-995 on rectal fluid volume and electrolyte loss, and local and general prostanoid
[Differential diagnosis at the bedside - villous rectum adenoma. Main symptom "diarrhea"].
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Islet-cell adenoma of the pancreas with reversible watery diarrhea and hypokalemia. WDHA syndrome.
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PANCREATIC ADENOMA WITH INTRACTABLE DIARRHEA, HYPOKALEMIA, AND HYPERCALCEMIA.
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[Severe diarrhea disclosing toxic adenoma of the thyroid].
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["C-cell" thyroid adenoma revealed by chronic diarrhea].
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