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

Mohsen Suliaman Al-Atawi; Sulaiman Abdullah Al-Queflie; Hamad Abdullah Al-Sadoon

doi:10.1136/bcr-2014-208925

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

BMJ Case Rep. 2015 Oct 22:2015:bcr2014208925. doi: 10.1136/bcr-2014-208925.

Authors

Mohsen Suliaman Al-Atawi¹, Sulaiman Abdullah Al-Queflie¹, Hamad Abdullah Al-Sadoon¹

Affiliation

¹ Department of Pediatric, King Abdulaziz Medical City, Riyadh, Central Region, Saudi Arabia.

Abstract

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.

2015 BMJ Publishing Group Ltd.

Publication types

Case Reports

MeSH terms

Child, Preschool
Cystic Fibrosis / diagnosis*
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Female
Homozygote
Humans
Mutation
Recurrence
Saudi Arabia
Water-Electrolyte Imbalance / etiology*

Substances

Cystic Fibrosis Transmembrane Conductance Regulator