title: Neonatal Bartter Syndrome in association with congenital adrenal hyperplasia in a neonate - a rare combination.
abstract: Neonatal Bartter syndrome (NBS) is an autosomal recessive renal tubulopathy characterized by hypokalaemic, hypochloraemic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninaemia and hyperaldosteronaemia but normotension. Congenital adrenal hyperplasia (CAH), another autosomal recessive condition, may present in the neonatal period with vomiting, hypovolaemia, failure to gain weight or ambiguous genitalia. We report a case of NBS and CAH combination in a neonate. A male neonate born at term was admitted with history of recurrent vomiting and dehydration episodes. Investigations revealed electrolytes imbalance, metabolic alkalosis, raised aldosterone and renin levels suggestive of NBS. He was treated successfully and discharged. He was re-admitted with the same symptoms. Further evaluation confirmed the presence of CAH as well. We report this case because of the rarity of this combination (NBS plus CAH) and to the best of our knowledge this is the first such case report from Pakistan.
authors.affiliation: Combined Military Hospital, Peshawar, Pakistan.
authors.forename: Shabbir
authors.initials: S
authors.lastname: Hussain
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000175:diagnosis; D001477:Bartter Syndrome / Q000150:complications* / Q000175:diagnosis; D003681:Dehydration / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010154:Pakistan; D014839:Vomiting / Q000209:etiology
keywords: Neonate, Bartter syndrome, congenital adrenal hyperplasia, Combination, Pakistan.