Recurrent episodes of unexplained hypoelectrolytaemia of a rare cause in a young Saudi girl.
We report a case of a 36-month-old Saudi girl who presented with recurrent episodes of unexplained hypoelectrolytaemia. Her cystic fibrosis CFTR (Cystic Fibrosis Transmembrane conductance Regulator) full gene sequence confirmed that she was homozygous for D579G mutation.
Department of Pediatric, King Abdulaziz Medical City, Riyadh, Central Region, Saudi Arabia.
Mohsen Suliaman
MS
Al-Atawi
Department of Pediatric, King Abdulaziz Medical City, Riyadh, Central Region, Saudi Arabia.
Sulaiman Abdullah
SA
Al-Queflie
Department of Pediatric, King Abdulaziz Medical City, Riyadh, Central Region, Saudi Arabia.
Hamad Abdullah
HA
Al-Sadoon
D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D009154:Mutation; D012008:Recurrence; D012529:Saudi Arabia; D014883:Water-Electrolyte Imbalance / Q000209:etiology*
D019005:Cystic Fibrosis Transmembrane Conductance Regulator