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diabetes insipidus/diarrhée
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Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus.
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Congenital diarrhea disorders are a group of genetically diverse and typically autosomal recessive disorders that have yet to be well characterized phenotypically or molecularly. Diagnostic assessments are generally limited to nutritional challenges and histologic evaluation, and many
[FUNCTIONAL DIABETES INSIPIDUS OF RENAL ORIGIN IN ACUTE DIARRHEA IN INFANTS].
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Refractory Paraneoplastic Diarrhea Secondary to Adenocarcinoma of the Lung: A Case Report and Literature Review
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Paraneoplastic diarrhea is a commonly described complication of gastrointestinal tract or endocrine malignancies. It is an extremely rare complication of lung adenocarcinoma, with only one previously reported case in the literature. A 46-year-old female with newly diagnosed stage IVb lung
Central diabetes insipidus misdiagnosed as acute gastroenteritis in a pediatric patient.
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This case report describes an unusual presentation of nausea, vomiting and diarrhea, which was misdiagnosed as acute gastroenteritis in a 6-year-old girl. The patient later returned to the emergency department (ED) with severe dehydration from idiopathic central diabetes insipidus (DI). At her first
[Nephrogenic diabetes insipidus during lithium acute intoxication].
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Acute lithium intoxication may occur in circumstances causing kidney failure, when using lithium chronically. This situation may lead to neurological symptoms with coma, gastrointestinal disorders with diarrhea, cardiovascular symptoms with hypotension and metabolic symptoms with hypercalcemia.
[Transient diabetes insipidus following removal of a medullary thyroid carcinoma (author's transl)].
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Medullary thyroid carcinoma (MTC) is a known apudoma producing calcitonin, prostaglandins and serotonin. It can present itself as a familial or sporadic form or as part of a multiple endocrine adenomatosis. We present here the case of a patient admitted with a four-year history of diarrhea,
Hypokalemic nephropathy and nephrogenic diabetes insipidus due to excessive consumption of a soft drink.
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Chronic diarrhea commonly causes hypokalemia. However, life-threatening hypokalemia due to chronic diarrhea has not been reported in the adult caused by chronic ingestion of a fructose beverage. We report an adult patient who had severe hypokalemia from chronic osmotic diarrhea as a result of
Contiguous gene deletion in a Chinese family with X-linked nephrogenic diabetes insipidus: challenges in early diagnosis and implications for affected families.
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Nephrogenic diabetes insipidus (NDI) is a rare disorder of the renal collecting tubules, characterized by an inability to concentrate urine due to an impaired response to arginine vasopressin (AVP), resulting in dilute urine and polyuria. Causes of NDI are heterogeneous and diagnosing congenital NDI
Glucose Galactose Malabsorption complicated with Rickets and Nephrogenic Diabetes Insipidus.
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Congenital Glucose Galactose malabsorption (CGGM) is a rare disorder with limited data from the Arab world. We report the first case of CGGM in Oman.B.S.A two years old female who presented with chronic osmotic diarrhea since birth with hypernatraemic dehydration. B.S was found to have Glucose
Neurogenic diabetes insipidus in a child with fatal Coxsackie virus B1 encephalitis.
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A 5 year-old boy presented with fever, sore throat, diarrhea, and general soreness which evolved into encephalitis. His cerebrospinal fluid showed a cell count of 3 mononuclear cells/microliters, protein 2800 mg/l, and growth of Coxsackie virus B1. Cardiorespiratory arrest was noted after a
Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.
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Proprotein convertase 1/3 (PC1/3) deficiency, an autosomal-recessive disorder caused by rare mutations in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene, has been associated with obesity, severe malabsorptive diarrhea, and certain endocrine abnormalities. Common variants in
Altered fluid, electrolyte and mineral status in tropical disease, with an emphasis on malaria and leptospirosis.
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Fluid, electrolyte and mineral perturbations are prevalent features of tropical disease. Hemodynamic alterations, fever, nitrogen wasting, and changes in membrane transport and acid-base balance contribute to these perturbations. Models of malaria and leptospirosis have been used to show that common
A case of an accidental exposure to a veterinary insecticide product formulation.
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A veterinary technician while opening a package was accidentally exposed to a commercial canned product formulation containing insecticides and solvents. The patient was twice briefly treated and released as an outpatient from 2 different hospitals on the first and second day after the exposure.
Infant hypernatremia: a case report.
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A 7-month-old infant presented to the emergency department with diarrhea, vomiting, and decreased activity. The infant was febrile, tachycardic, tachypneic, lethargic, and had a prolonged capillary refill. Initial serum sodium was 197 mmol/L. Ultimately, the infant was diagnosed with central
Hypokalemia, normal blood pressure, and hyperreninemia with hypoaldosteronism.
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The etiology of persistent hypokalemia and renal potassium loss was investigated in three children. Each had normal blood pressure but low plasma aldosterone values in relation to elevated plasma renin activity. None had a history of licorice abuse, laxative or diuretic use, persistent vomiting or
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