Prenatal suspicion and postnatal diagnosis of a patient with cystic fibrosis

Abstract

Introduction: Cystic fibrosis is a genetic disease of autosomal recessive inheritance, characterized by dysfunction of the exocrine secretion glands.

Case report: Male patient 2 years of age, at term (39 weeks). In the third trimester of pregnancy, polyhydramnios, dilated bowel loops and a possible low bowel atresia is not ruled out at that time. Rest of normal genetic tests. At the month of birth he enters due to malnutrition and liquid diarrhea. After 2 months, she re-entered due to respiratory manifestations, in the nutritional evaluation her height and weight was below the third percentile, she had skin-pale pallor, demonstrating anemia due to iron deficiency and light hair color. Given the prenatal history and the predominance of digestive and respiratory manifestations, it is decided to perform sweat electrolyte examination in 2 moments, which are negative. It is decided to conduct a molecular study for the detection of mutations that results: ΔF508del / R1162X (Heterozygous compound for cystic fibrosis). Dietary and vitamin therapy treatment is applied. He continues his attention in multidisciplinary consultations, Nutrition, Gastroenterology, Genetics and Pediatrics.

Conclusions: The early diagnosis of cystic fibrosis is made by detecting the cardinal signs that involve the respiratory and digestive system; as well as family history. In the prenatal stage, the findings related to the increased amniotic fluid, the alteration of the fetal vesicle should be taken into account, which allows the definitive diagnosis to be made by studying the mutations.