Bartter syndrome in a female infant: A rare case report from Syria

Hamdah Hanifa1,2, Jamal Ataya3, Malak Abu-Naja4

  • 1Faculty of Medicine, University of Kalamoon, Al-Nabk, Syria.

PubMed

Insights

Antenatal Bartter syndrome, a rare renal tubular disorder, presents diagnostic challenges. Early monitoring of dehydration and electrolyte imbalances is crucial for managing this condition and preventing complications.

Area of Science:

  • Pediatric Nephrology
  • Genetics and Rare Diseases

Background:

  • Antenatal Bartter syndrome is a rare genetic disorder affecting renal tubular function.
  • It impairs sodium and chloride reabsorption, leading to polyuria, vomiting, dehydration, and failure to thrive.

Observation:

  • A 3-month-old infant presented with severe hypotension, facial flattening, cough, and seizures.
  • The infant exhibited typical Bartter syndrome features, excluding prematurity and hypercalciuria.

Findings:

  • The case highlights diagnostic challenges in rare conditions like Antenatal Bartter syndrome due to low prevalence.
  • Specific clinical presentations may vary, lacking some typical features such as hypercalciuria.

Implications:

  • Regular follow-ups and monitoring for dehydration and electrolyte imbalances are vital in managing Bartter syndrome.
  • Early intervention and close patient monitoring can significantly improve outcomes and prevent severe complications.