Bartter syndrome (BS) is a well-recognised inherited tubular dysfunction that causes polyuria, metabolic alkalosis and hypokalaemia. Among BS cases, antenatal/neonatal BS (ABS) usually shows distinct polyhydramnios prenatally and presents features of BS in the early neonatal period. We encountered a premature infant with type 3 ABS presenting with mild polyuria and discuss the pathogenesis of mild polyuria in type 3 ABS. A male infant was born at 31 weeks’ gestation. His mother received amniocentesis because of polyhydramnios. Hyponatraemia and hypokalaemia appeared within 3 days after birth. Metabolic alkalosis, hyperreninaemia and hyperaldosteronism were also identified. Temporary polyuria developed at 1 month after birth; however, the mean urine output during hospitalisation was within the normal range. CLCNKB compound heterozygous mutations were confirmed. Polyuria of type 3 ABS may be less severe than in other types of ABS. Lower urine sodium loss may be a characteristic feature of type 3 ABS.
- congenital disorders
- neonatal and paediatric intensive care
- renal medicine
- fluid electrolyte and acid-base disturbances
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Contributors YO cared for the patient, drafted the initial manuscript and reviewed and revised the manuscript. YK, HS and SY critically reviewed the manuscript for important intellectual content. All authors have read and approved the final manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
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