Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype.
We report a 16-year-old boy with cystic fibrosis presenting with meconium ileus in the neonatal period who showed mild clinical phenotype later. He had sufficient pancreatic function, mild lung involvement and borderline sweat chloride levels. Analysis of the cystic fibrosis transmembrane regulator protein gene revealed the rare mutation: 2183AA-G/D1152H. To our knowledge, this is the first report concerning such a mutation combination in cystic fibrosis.
Yalçin
Ebru
E
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Ozçelik
Uğur
U
Yilmaz
Engin
E
Doğru
Deniz
D
Kiper
Nural
N
Ferec
Claude
C
D000293:Adolescent; D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005838:Genotype; D006801:Humans; D045823:Ileus / Q000150:complications*; D007231:Infant, Newborn; D008297:Male; D008470:Meconium; D010641:Phenotype
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator