P65 Gitelman syndrome: case report of a toddler following salbutamol inhaler. (June 2019)

• Record Type: Journal Article
• Authors: Sundram, Vasanthee; Daly, Edwina; Waldron, Mary
• Is Part Of: Archives of disease in childhood. Volume 104:(2019)Supplement 3
• Page Start: A182
• Page End: A182
• Publication Date: 2019-06
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/archdischild-2019-epa.420
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : Background: Gitelman syndrome (GS), is an inherited autosomal recessive renal disorder characterized by hypokalemic metabolic alkalosis with significant hypomagnesemia and low urinary calcium excretion. It is a rare disorder which usually manifests in early adulthood with muscle weakness, fatigue, muscle cramps, and less commonly by abdominal pain, nausea and vomiting. Case report: We report on a 2 year old boy who presented to the Emergency Department with a two weeks history of coughing. His parents had been administering regular Salbutamol inhaler to control his symptoms. He had a previous admission three months earlier and was discharged on inhaled Salbutamol to be used as required. His weight was 11.6 kgs (25–50th percentile), height was 87.5 cm (50th percentile) and BMI 15.2 Kg/m 2 He was miserable on examination with mild recession, bilateral expiratory wheeze with crackles in both bases. Initial laboratory investigations showed a normal full blood count, urea and electrolytes, a normal venous blood gas with a C - reactive protein of 45 mg/L. Chest x-ray reported patchy infective changes in the left lower lobe with diffuse perihilar inflammatory changes. The patient was commenced on intravenous Amoxicillin and 2.5 mgs, oral steroids and nebulised Salbutamol to be administered every four hours. On day 3 of admission, he was noted to be extremely lethargic and was barely responding to his mother's voice which was not in keeping with the improvement of his respiratory symptoms. Repeated blood gas analysis showed a significant metabolic alkalosis (pH 7.552) and hypokalemia (2.7 mmols/L) He was started on intravenous fluids with added KCl 20 mmols/500ml. Nebulised Salbutamol was changed to the inhaled form and Inhaled Fluticasone was added. ECG showed flattened T waves, possible U waves and a QTc of 460. Urinary creatinine, phosphate, sodium, calcium and Magnesium were requested. A Renal ultrasound and sweat test were arranged which were subsequently normal. The nephrology Team were consulted who confirmed the diagnosis of Gitelman syndrome and recommended regular Ibuprofen for three days. He made an uneventful recovery and his potassium and blood gas normalised after two days. Discussion: Gitelman Syndrome is often difficult to diagnose in Paediatrics because it usually presents in adolescence or early adulthood. Sudden cardiac arrest has been reported and it is therefore an extremely important condition to recognise particularly when prescribing potassium lowering agents like Salbutamol and Steroids.