engleski

An unusual presentation of cystic fibrosis

Case presentation: A 10 weeks old boy was referred to our institution for severe anemia (hematocrit 0.16) with evidence of hemolysis (slightly raised unconjugated bilirubin, low haptoglobin level, high reticulocyte count, normal iron status). Routine laboratory workup was normal except for lower albumen plasma levels (18.4 g/L). Common causes of hemolysis were excluded. Anemia was corrected with transfusion, but hemoglobin levels kept dropping afterwards, with no evidence of blood loss. The boy failed to thrive although intake was sufficient for his expected weight. Further investigation confirmed the diagnosis of cystic fibrosis (homozygot dF508) with fat-soluble vitamin deficiency. Typical signs, i.e. diarrhea or pulmonary manifestations were not present. Treatment: Malabsorption was controlled with 3000 IU lipase per feeding and catch-up growth was initialized with daily 170 kcal/kg intake. Hemolysis stopped following alpha-tocopherol 100 IU orally, but 200 IU of vitamin E daily were needed to correct the vitamin status. Comment: This patient had hemolytic anemia as an initial sign of CF, due to malabsorption and consecutive vitamin E deficiency. High intake of polyunsaturated fats in breast milk and supplemental iron fortified formula were possible contributing factors. Anemia with vitamin E deficiency should be considered as a possible presentation of CF in infancy and confirmatory tests for CF are indicated in such cases.

cystic fibrosis; anaemia

nije evidentirano