Open AccessBartter Syndrome in Children; A Cause of Severe Hypokalemic Metabolic Alkalosis: Clinical Case Report and Literature Review
Author(s) -
A. Radi,
M. Akhrif,
M. Kmari,
A. Ourrai,
Ali Hassani,
R. Abilkassem,
A. Agadr
Publication year - 2020
Publication title -
asian journal of pediatric research
Language(s) - English
Resource type - Journals
ISSN - 2582-2950
DOI - 10.9734/ajpr/2020/v4i430153
Subject(s) - bartter syndrome , metabolic alkalosis , hypokalemia , polyuria , medicine , hyponatremia , hypercalciuria , hypernatremia , endocrinology , bartter's syndrome , polydipsia , loop of henle , hyperaldosteronism , alkalosis , metabolic disorder , aldosterone , gastroenterology , nephron , urinary system , kidney , sodium , chemistry , organic chemistry , acidosis , diabetes mellitus
Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of Henle. It characterized by urinary loss of sodium, potassium, and chloride; hypokalemic metabolic alkalosis; normal blood pressure, high plasma levels of renin and aldosterone. There is phenotypical and genetic variability of Bartter syndrome since were identified five genes responsible for five different forms of Bartter syndrome. The objective of this work is to report a clinical case to study the pathophysiological, clinical, biological and therapeutic features of this syndrome.
Materials and Methods: We reported a case of 04-month-old male infant admitted for acute dehydration secondary to polyuro-polydipsia syndrome and vomiting. In clinical presentation the patient had a dysmorphic syndrome with triangular face, protruding ears and flattened nasal root. Laboratory tests revealed hypokalemia, hyponatremia, metabolic alkalosis and hypercalciuria. Treatment with indomethacin was started at 1 mg/kg per day with favorable outcome.