title: Rare F311L CFTR gene mutation in a child presented with recurrent electrolyte abnormalities and metabolic alkalosis: case report.
abstract: Delta F508 mutation is recognized as the most common genotype of cystic fibrosis (CF) however, there are small numbers of CF patients having Delta F508/F311L. In the present study, the authors report a 2-year-old Thai boy, originating from North India, presenting with recurrent episodes of febrile illness, hyponatremia, hypokalemia, and metabolic alkalosis since 4 months of age. He was transferred to our hospital for further investigation. Blood chemistry revealed the following serum electrolytes, sodium 122, potassium 3.69, chloride 79.7, and bicarbonate 33.8 mEq/L, and the following urine electrolytes, sodium < 10, potassium 45.7 and chloride < 10 mEq/L. After intravenous fluid administration, hyponatremia and metabolic alkalosis improved DNA sequencing analysis of his blood demonstrates compound mutation for Delta F508 and F311L in CFTR gene. In conclusion, the authors report a rare case of CF with Delta F508/F311L genotype presented with recurrent hyponatremia and metabolic alkalosis. Awareness of electrolyte abnormalities during febrile illness, proper genetic counseling, and long-term follow up are necessary in this patient.
authors.affiliation: Pediatric Nephrology Division, Phramongkutklao Hospital, Bangkok, Thailand. adisornuic@yahoo.com
authors.forename: Adisorn
authors.initials: A
authors.lastname: Lumpaopong
authors.forename: Prapaipim
authors.initials: P
authors.lastname: Thirakhupt
authors.forename: Konggrapun
authors.initials: K
authors.lastname: Srisuwan
authors.forename: Yupapin
authors.initials: Y
authors.lastname: Chulamokha
mesh_terms: D000471:Alkalosis / Q000209:etiology* / Q000235:genetics; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics; D005838:Genotype; D006801:Humans; D007008:Hypokalemia / Q000209:etiology / Q000235:genetics; D007010:Hyponatremia / Q000209:etiology / Q000235:genetics; D007194:India; D008297:Male; D009154:Mutation; D017422:Sequence Analysis, DNA
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA