Congenital chloride diarrhea

Congenital Chloride Diarrhea (CCD) is a rare genetic disorder that affects the body's ability to absorb chloride and sodium in the intestines. This condition is characterized by a high concentration of chloride in the stool and can lead to severe dehydration, metabolic alkalosis, and failure to thrive.

Pronunciation

The term "Congenital Chloride Diarrhea" is pronounced as /kənˈjenɪtl ˈklɔːraɪd daɪəˈriːə/.

Etymology

The term "Congenital Chloride Diarrhea" is derived from the following roots:

Congenital: From the Latin congenitus, meaning "born with" or "existing from birth".
Chloride: From the Greek chloros, meaning "green", and the chemical suffix -ide, indicating a binary compound.
Diarrhea: From the Greek diarrhoia, meaning "flowing through".

Symptoms

The primary symptom of CCD is chronic, watery diarrhea that begins in infancy. Other symptoms may include failure to thrive, dehydration, and metabolic alkalosis.

Causes

CCD is caused by mutations in the SLC26A3 gene, which is responsible for the production of a protein that helps to absorb chloride and sodium in the intestines.

Diagnosis

Diagnosis of CCD is typically made through a combination of clinical findings, laboratory testing, and genetic testing. The presence of high levels of chloride in the stool is a key diagnostic indicator.

Treatment

Treatment for CCD typically involves the administration of oral electrolyte solutions to replace lost fluids and salts. In some cases, medications may be used to help manage symptoms.

Related Terms

External links

Medical encyclopedia article on Congenital chloride diarrhea
Wikipedia's article - Congenital chloride diarrhea

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