Recurrent episodes of unexplained hypoelectrolytaemia of a rare cause in a young Saudi girl

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.

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Bibliographische Detailangaben
Veröffentlicht in:BMJ case reports 2015-10, Vol.2015, p.bcr2014208925
Hauptverfasser: Al-Atawi, Mohsen Suliaman, Al-Queflie, Sulaiman Abdullah, Al-Sadoon, Hamad Abdullah
Format: Artikel
Sprache:eng
Schlagworte:
Age
Child, Preschool
Chloride
Cystic fibrosis
Cystic Fibrosis - diagnosis
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Electrolytes
Emergency medical care
Female
Homozygote
Humans
Middle East
Mutation
Patient admissions
Potassium
Recurrence
Saudi Arabia
Sodium
Unusual Presentation of More Common Disease/Injury
Water-Electrolyte Imbalance - etiology
White
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Beschreibung
Zusammenfassung: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.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2014-208925