Severe CF manifestation with anaemia and failure to thrive in a 394delTT homozygous patient.
We report on a 394delTT homozygous cystic fibrosis (CF) patient with severe disease progression. At the diagnosis made at the age of 2.5 months, he suffered from macrocytic anaemia as the most prominent symptom of CF, malnutrition, hypoproteinaemia and profound hypoalbuminaemia, but demonstrated only minimal pulmonary symptoms. Abnormal sweat chlorides confirmed the diagnosis of CF. Severe pulmonary and liver disease caused death after 6 years.
Estonian Biocentre, Riia 23, Tartu 51010, Estonia. Tiina.Kahre@kliinikum.ee
Tiina
T
Kahre
Maris
M
Teder
Maarja
M
Panov
Andres
A
Metspalu
D000748:Anemia, Macrocytic / Q000150:complications / Q000175:diagnosis*; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005183:Failure to Thrive; D017809:Fatal Outcome; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D012720:Severity of Illness Index
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator