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Congenital chloride diarrhoea or CCD

CCD is a rare disease which belongs to the Finnish disease heritage. The condition is caused by a genetic mutation, which causes a chloride absorption disorder in the intestines. This leads to chronic diarrhoea when sodium and water are insufficiently absorbed at the end of the small and large intestines.

Congenital chloride diarrhoea is a rare genetic disease caused by an autosomal recessive mutation on chromosome 7 of the SLC26A3 gene. The siblings of a child suffering from congenital chloride diarrhoea have a 25 per cent risk of being born with the condition and a 50 per cent chance of being born as a carrier of the gene mutation.  In Finland, approximately 60-70 people suffer from congenital chloride diarrhoea. Globally, around 250 people have the condition.

The disorder can be diagnosed in a foetus already during pregnancy by excessive amniotic fluid caused by the foetus’ increased watery diarrhoea. The diagnosis can be made during pregnancy by conducting genetic testing on the amniotic fluid or a placenta specimen. The baby will develop a salt imbalance disorder, and its weight may drop immediately after birth. The baby becomes dehydrated, develops jaundice, and its abdomen is bloated due to the fluid-filled intestines. Continuous watery diarrhoea can be mistaken for urine. Without treatment, a newborn baby will die from a fluid imbalance within a few weeks after birth. The disorder can be diagnosed with elevated chloride levels in stools, and the blood’s decreased chloride and sodium contents.

Congenital chloride diarrhoea is treated with life-long salt replacement therapy, which corrects the patient’s fluid imbalance. Salt replacement therapy increases the absorption of salts and prevents the occurrence of salt and acid-base imbalance disorders. Despite treatment, excessive diarrhoea will continue. However, it will decrease relatively as the child grows.