Bartter Syndrome With Episode Of Status Epilepticus : What Should We Do And Expect In The Future?

Mufidah, Ayu Dwi and Cahyono, Agus (2023) Bartter Syndrome With Episode Of Status Epilepticus : What Should We Do And Expect In The Future? In: Pendidikan kedokteran berkelanjutan IKA XV, 3-4 Juni 2023, Malang, Indonesia.

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Abstract

Introduction: Bartter Syndrome (BS) is a rare and inherited disease resulting in defects in renal tubular handling of sodium, potassium and chloride caused by different genetic mutations with the molecular defects of chloride reabsorption originating at different sites of the nephron in each condition which is lead to magnesium and calcium abnormality. 1,3 It can be accompanied by seizure as early manifestation.2 The presence of epilepsy in BS case is rare but can appear as clinical manifestations. 4 Case Presentation: A 15-year-old girl, with a history of status epilepticus BS, was referred for further treatment because of frequent recurrent seizures. She has never had an EEG before. So it will be planned later to establish the diagnosis of epilepsy. The patient arrived at the ER with GCS 224 (post diazepam recent minutes ago) and normal physical examination. No family history of epilepsy. History of recurrent hypokalemy and often complain of weakness, polyuri, and stiff body. She was taking regularly valproic acid and potassium chloride for recent months. On first day of treatment, electrolyte serum examination Na=131 mEq/L, K=3,8 mEq/L, Ca=7,8mg/dL. On BGA examination, we got metabolic alkalosis, pH=7,57, pCO2=27,4mmHg, HCO3=25,3mmol/L, BE=4,2mEq/L. Phenytoin serum 17,93mcg/mL. She got treatment phenytoin, valproic acid, and potassium chloride. Conclusion: Patients with BS, the electrolyte should be monitored carefully since it might precipitate seizure. However the presence of epilepsy can not be simply overlooked and should be proven with EEG.

Item Type:	Conference or Workshop Item (Poster)
Uncontrolled Keywords:	bartter syndrome, hypokalemia, metabolic alkalosis, seizure
Subjects:	R Medicine > RJ Pediatrics > RJ101 Child Health. Child health services
Divisions:	Faculty of Medical > Medical Study Program
Depositing User:	AGUS CAHYONO
Date Deposited:	08 Aug 2023 06:04
Last Modified:	08 Aug 2023 06:04
URI:	http://repository.ubaya.ac.id/id/eprint/44678

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