Mysterious diagnosis in a child with failure to thrive
Abstract
Introduction Mutations of several genes encoding the transporters involved in salt reabsorption in the thick ascending limb cause different types of Bartter syndrome (BS), with variable phenotypic expression and severity. Type I and II are the most severe presenting with polyhydramnios, prematurity and characteristically hypokalemia, metabolic alkalosis, polyuria and hypercalciuria. Case We report the case of a 9 month old girl referred because of fever, vomiting, dehydration and electrolyte abnormalities despite fluid administration. Medical history revealed unexplained maternal polyhydramnios, prematurity (34weeks) and dysmaturity (birth weight 1,75kg). She was admitted in a neonatal unit and after a smooth course, was discharged after 36 days (weight 2,2kg). At 4months she presented with feeding difficulties and failure to thrive with no biochemical abnormalities or polyuria were . At admission, laboratory examination revealed plasma potassium (K) level <3.0 mmol/L, combined with inappropriately high excretion (44%), metabolic alkalosis and hypernatremia (154 mmol/l). Despite IV fluids the biochemical abnormalities persisted but polyuria became prominent Blood pressure (BP) was 115/64mmHg with normal vital parameters. She had pronounced frontal bossing, small hands and a wide nose bridge. Neurological examination was normal. Additional findings of hyperreninemia hyperaldosteronism, hypercalciuria and nephrocalcinosis were suggestive of a tubulopathy, namely BS. However…
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