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Phenotypic variability in Bartter syndrome type I.

A Bettinelli1, S Ciarmatori, L Cesareo

  • 1Clinica Pediatrica De Marchi, Milan, Italy. alberto.bettinelli@unimi.it

Pediatric Nephrology (Berlin, Germany)
|September 7, 2000
PubMed
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Bartter syndrome type I, caused by mutations in the Na-K-2Cl cotransporter gene (BSC), can present with varied symptoms. Molecular evaluation is crucial for diagnosing atypical cases lacking typical hypokalemia or metabolic alkalosis in early life.

Area of Science:

  • Nephrology
  • Genetics
  • Pediatrics

Background:

  • Bartter syndrome type I is a hereditary renal tubular disorder typically diagnosed antenatally or neonatally.
  • Classic symptoms include polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis.
  • Mutations in the Na-K-2Cl cotransporter gene (BSC) cause Bartter syndrome type I.

Observation:

  • Nine children with hypercalciuria and nephrocalcinosis were studied.
  • Five patients had new mutations in the BSC gene.
  • Three of these five cases lacked hypokalemia and metabolic alkalosis in early life, mimicking incomplete distal renal tubular acidosis.

Findings:

  • Three additional patients presented with hypokalemia and hypercalciuria, but atypical metabolic acidosis or hypernatremia/hyperchloremia.

Related Experiment Videos

  • Molecular evaluation identified BSC gene mutations, including a recurrent A555T missense mutation in two patients.
  • These findings highlight significant phenotypic variability in Bartter syndrome type I.

    • Implications:

    • Bartter syndrome type I can exhibit atypical presentations, including the absence of hypokalemia/metabolic alkalosis or presence of metabolic acidosis/hypernatremia in infancy.
    • Molecular genetic testing is essential for diagnosing complex and atypical cases.
    • Understanding this variability aids in earlier and more accurate diagnosis of this hereditary renal tubular disorder.