Abstract
Congenital diarrheal disorders (CDDs) are a heterogeneous group of inherited
diseases that typically occur in the first weeks of life or can present later in
life after the introduction of different nutrients; they can cause
life-threatening severe dehydration and electrolyte disturbances. This study was
conducted to characterize the causes of monogenic CDDs, and their clinical
consequences. Clinical characteristics of 31 patients with CDDs that occurred in
the first month of life and lasted more than 2 weeks were analyzed
retrospectively. The patients were divided into groups according to the current
CDD classification. The rate of consanguinity among parents was 77.4%.
Of the patients, 16 (51.6%) were female and 15 (48.4%) were
male. The underlying genetic defect was determined in 26 (83.9%)
patients. The most common etiologic factors were digestive disorders of food and
absorption and transport of electrolytes (58.1%, 18/31) (most of
them being carbohydrate malabsorption disorders, 12/18) and intestinal
immune system disorders (9.6%, 3/31). Total parenteral nutrition
(TPN) was given to 45.2% (14/31) of the patients. Mortality rate
was 28.5% (8/28). In conclusion, early diagnosis and treatment
of CDDs with high morbidity and mortality is extremely important in terms of
prognosis. Clinical and laboratory findings, stool characteristics,
histopathological findings and the effects of dietary therapy are the primary
and most important steps that lead to accurate diagnosis. In addition, advanced
diagnostic possibilities, including genetic analyses, are essential for
diagnosing underlying diseases.
Key words
Congenital diarrheal disorders - consanguinity - glucose galactose malabsorption
