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Type 3 antenatal Bartter syndrome presenting with mild polyuria.

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|April 8, 2021
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Summary

Antenatal/neonatal Bartter syndrome (ABS) typically causes severe symptoms. This study highlights a premature infant with type 3 ABS exhibiting mild polyuria, suggesting a less severe presentation and unique characteristics in this subtype.

Keywords:
congenital disordersfluid electrolyte and acid-base disturbancesneonatal and paediatric intensive carerenal medicine

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Area of Science:

  • Nephrology
  • Pediatrics
  • Genetics

Background:

  • Bartter syndrome (BS) is an inherited renal tubular disorder characterized by polyuria, metabolic alkalosis, and hypokalemia.
  • Antenatal/neonatal Bartter syndrome (ABS) often presents with polyhydramnios and early-onset BS features.
  • Type 3 ABS, associated with CLCNKB mutations, is less commonly reported, particularly regarding its milder manifestations.

Purpose of the Study:

  • To describe a case of premature infant with type 3 ABS presenting with mild polyuria.
  • To discuss the potential pathogenesis of mild polyuria in type 3 ABS.
  • To investigate the clinical and genetic characteristics of this specific ABS subtype.

Main Methods:

  • Case report of a premature infant born at 31 weeks' gestation with suspected ABS.
  • Prenatal diagnosis due to polyhydramnios.
  • Postnatal biochemical analysis revealing hyponatremia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism.
  • Genetic testing confirming CLCNKB compound heterozygous mutations.
  • Monitoring of urine output and electrolyte levels during hospitalization.

Main Results:

  • The infant presented with mild, temporary polyuria, with mean urine output within the normal range during hospitalization.
  • Biochemical findings were consistent with ABS, including electrolyte imbalances and hormonal abnormalities.
  • Genetic analysis identified compound heterozygous mutations in the CLCNKB gene, confirming type 3 ABS.
  • The observed mild polyuria suggests a potentially less severe phenotype compared to other ABS types.

Conclusions:

  • Type 3 antenatal/neonatal Bartter syndrome can present with milder polyuria than previously recognized.
  • Lower urine sodium loss might be a distinguishing feature of type 3 ABS.
  • This case expands the understanding of the phenotypic variability within ABS, particularly for type 3.