Congenital chlorine diarrhea is a rare syndrome of impaired transport of chloride ion through the gut. Symptoms of the disease are visible already in pregnancy, manifesting as polyhydramnios in the mother, and in the child - watery diarrhea immediately after birth. Learn more about Congenital Chlorine Diarrhea.

Contents:

  1. Congenital chlorine diarrhea - symptoms
  2. Congenital chlorine diarrhea - diagnosis
  3. Congenital chlorine diarrhea - treatment and prognosis

Congenital chlorine diarrheais an autosomal recessive disease that occurs rarely. The gene located on chromosome 7 is mutated, which is associated with the disturbance of chloride ion transport in the intestines.

A characteristic feature of congenital chlorine diarrhea is the defect in the transport of chloride and bicarbonate in the terminal ileum and large intestine.

This abnormality results in a loss of chloride with the stool. As a result of this process, bicarbonate is left in enterocytes and colonocytes, and a large amount of chloride ions is released with the stool.

Congenital chlorine diarrhea - symptoms

Congenital chlorine diarrhea gives characteristic symptoms. These include:

  • distended fetal intestinal loops,
  • no meconium,
  • watery, acidic stool, often confused with urine,
  • from birth: no appetite, no weight gain,
  • hypochloremia,
  • hypokalemia,
  • metabolic alkalosis,
  • hyponatraemia.

Symptoms of congenital chlorine diarrhea are already visible during pregnancy. Often, congenital chlorine diarrhea results in preterm labor. After birth, the baby may become dehydrated quickly and inhibit its somatic development.

You should therefore pay close attention to all the symptoms of your newborn baby so that your kidneys do not suffer secondary damage.

Congenital chlorine diarrhea - diagnosis

The diagnosis is made on the basis of the clinical picture and the time of onset of the disease. Blood laboratory tests should be performed:

  • chloride concentration
  • potassium concentration
  • sodium concentration

It is also necessary to test the stool, in which there is an increased loss of chloride ions: more than 90mmol / l.

Congenital chlorine diarrhea - treatment andprognosis

Treatment of congenital chlorine diarrhea consists in supplementing water deficiencies and the constant administration of preparations containing chloride and sodium.

At the beginning of treatment, it is recommended to take the ions parenterally, then they are administered orally. If supplementation is started early enough, the numerous symptoms associated with congenital chlorine diarrhea can be avoided.

With early diagnosis of congenital chlorine diarrhea (in the neonatal period) and proper treatment, there is a good chance for the proper development of the child.

Worth knowing

Diarrhea is a symptom of a digestive system disease characterized by frequent (more than 3 times a day) passing stools of a thin consistency. The classification of diarrhea is based on their pathogenesis. There are diarrhea: osmotic, secretory and motor.

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About the authorNatalia MłyńskaStudent of medicine at the Medical University of Lodz. Medicine is her greatest passion. He also loves sports, mainly running and dancing. She would like to treat her future patients in such a way as to see them as a human being, not only a disease.

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