A Rare Disorder with Common Clinical Presentation: Neonatal Bartter Syndrome.
Bartter syndrome is an autosomal recessive renal tubulopathy that presents with hypokalemic, hypochloremic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninemia and hyperaldosteronemia but normotension. A full term male neonate was referred at 20-day of age with features of sepsis and respiratory distress. He was evaluated and managed as case of septicemia with all supportive paraphernalia including mechanical ventilation. Investigations revealed electrolytes imbalance and metabolic alkalosis suggestive of Neonatal Bartter Syndrome (NBS). Raised aldosterone and renin levels confirmed the diagnosis. Electrolyte imbalance was corrected with fluids and indomethacin, treated successfully, discharged and parents counseled. He was thriving well at 9 months of age. Another 2 months old male baby presented with recurrent episodes of lethargy with dehydration and failure to gain weight. Investigations confirmed the diagnosis of NBS. He was also successfully treated with same medication. We report these 2 cases because of the rarity of NBS, presentation of which may mimic common illnesses like sepsis and gastroenteritis.
Department of Paediatrics, Combined Military Hospital, Kharian.
Shabbir
S
Hussain
Department of Paediatrics, Combined Military Hospital, Kharian.
Saba Haider
SH
Tarar
Department of Neurosciences, King Faisal Specialist Hospital and RC, Saudi Arabia.
Muhammad
M
Al-Muhaizae
D000450:Aldosterone / Q000097:blood; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D001477:Bartter Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy; D015415:Biomarkers / Q000097:blood; D006801:Humans; D007213:Indomethacin / Q000627:therapeutic use; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis; D008297:Male; D011189:Potassium Chloride / Q000627:therapeutic use; D035583:Rare Diseases / Q000150:complications; D012083:Renin / Q000097:blood; D017673:Sodium Chloride, Dietary / Q000627:therapeutic use; D016896:Treatment Outcome; D014883:Water-Electrolyte Imbalance / Q000209:etiology* / Q000628:therapy
D000894:Anti-Inflammatory Agents, Non-Steroidal; D015415:Biomarkers; D017673:Sodium Chloride, Dietary; D000450:Aldosterone; D011189:Potassium Chloride; D012083:Renin; D007213:Indomethacin