Case Reports
doi: 10.1016/j.jcf.2003.12.009.
Severe CF manifestation with anaemia and failure to thrive in a 394delTT homozygous patient
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- PMID: 15463888
- DOI: 10.1016/j.jcf.2003.12.009
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Case Reports
Severe CF manifestation with anaemia and failure to thrive in a 394delTT homozygous patient
J Cyst Fibros.
2004 Mar.
Free article
Abstract
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.
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