Pregled bibliografske jedinice broj: 215628
An unusual presentation of cystic fibrosis
An unusual presentation of cystic fibrosis // Abstract book, 6th international symposium for cystic fibrosis, Dubrovnik:
Dubrovnik, Hrvatska, 2002. (poster, nije recenziran, sažetak, stručni)
CROSBI ID: 215628 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
An unusual presentation of cystic fibrosis
Autori
Tješić-Drinković, Dorian ; Tješić-Drinković, Duška ; Votava-Raić, Ana ; Sertić, Jasminka
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni
Izvornik
Abstract book, 6th international symposium for cystic fibrosis, Dubrovnik:
/ - , 2002
Skup
6th international symposium for cystic fibrosis, Dubrovnik
Mjesto i datum
Dubrovnik, Hrvatska, 2002
Vrsta sudjelovanja
Poster
Vrsta recenzije
Nije recenziran
Ključne riječi
cystic fibrosis; anaemia
Sažetak
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.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
