Congenital chloride diarrhea
Overview
Congenital chloride diarrhea: A rare birth disorder where the intestines don't absorb electrolytes properly (especially chloride) which leads to electrolyte imbalance which is potentially fatal if untreated. Symptoms often start while the infant is still inside the womb.
Symptoms
The list of signs and symptoms mentioned in various sources for Congenital chloride diarrhea includes the 12 symptoms listed below: * Watery diarrhea * Polyhydramnios * Dehydration * Reduced blood electrolytes * Increased blood bilirubin levels * Enlarged abdomen * Failure to thrive * Metabolic acidosis * Absence of meconium in newborns * Low blood chloride level * Low blood potassium level * Low blood sodium level
Causes
Hypochloremia may result from: *decreased chloride intake or absorption, as in low dietary sodium intake, sodium deficiency, potassium deficiency, metabolic alkalosis; prolonged use of mercurial diuretics; or administration of dextrose I.V. without electrolytes *excessive chloride loss resulting from prolonged diarrhea or diaphoresis; loss of hydrochloric acid in gastric secretions due to vomiting, gastric suctioning, or gastric surgery. Hyperchloremia may result from: *excessive chloride intake or absorption — as in hyperingestion of ammonium chloride, or ureterointestinal anastomosis — allowing reabsorption of chloride by the bowel *hemoconcentration due to dehydration *compensatory mechanisms for other metabolic abnormalities, as in metabolic acidosis, brain stem injury causing neurogenic hyperventilation, and hyperparathyroidism.
Diagnosis
These home medical tests may be relevant to Congenital chloride diarrhea: * Colon & Rectal Cancer: Home Testing o Home Colorectal Cancer Tests o Home Fecal Occult Bleeding Tests * Cold & Flu: Home Testing: o Home Fever Tests o Home Ear Infection Tests o Home Flu Tests
Treatment
Hypochloremia therapy aims to correct the condition that causes excessive chloride loss and to give oral replacement such as salty broth. When oral therapy isn’t possible, or when emergency measures are necessary, treatment may include normal saline solution I.V. (if hypovolemia is present) or chloride-containing drugs, such as ammonium chloride, to increase serum chloride levels, and potassium chloride for metabolic alkalosis. For severe hyperchloremic acidosis, treatment consists of sodium bicarbonate I.V. to raise the serum bicarbonate level and permit renal excretion of the chloride anion, because bicarbonate and chloride compete for combination with sodium. For mild hyperchloremia, Ringer’s lactate solution is administered; it converts to bicarbonate in the liver, thus increasing base bicarbonate to correct acidosis. In either kind of chloride imbalance, treatment must correct the underlying disorder.