Congenital Nephrogenic Diabetes Insipidus Secondary to Antenatal Type IVa Bartter Syndrome

Majd Oweidat1, Mohammed Alra'e1, Ahmad J Abdallah1

  • 1College of Medicine, Hebron University, Hebron, West Bank, Palestine.

PubMed

Insights

This study reports a rare case of Bartter syndrome type IVa in an infant, complicated by secondary congenital nephrogenic diabetes insipidus. Early recognition of this complication is crucial for timely intervention and improved patient outcomes.

Area of Science:

  • Nephrology
  • Genetics
  • Pediatrics

Background:

  • Bartter syndrome (BS) is a rare inherited salt-wasting tubulopathy affecting the thick ascending limb of the loop of Henle.
  • Type IVa BS is characterized by severe salt wasting, sensorineural hearing loss, and impaired urinary concentration.

Observation:

  • A 6-month-old female infant presented with antenatal type IVa BS due to a homozygous BSND variant.
  • The infant exhibited failure to thrive, recurrent dehydration, severe electrolyte imbalances, and profound polyuria, suggestive of secondary congenital nephrogenic diabetes insipidus (NDI).

Findings:

  • Diagnostic evaluation, including genetic testing and a water deprivation test with vasopressin challenge, confirmed renal NDI.
  • The patient's condition was managed with electrolyte correction, Indomethacin, and supportive care.

Implications:

  • This case underscores the importance of identifying secondary congenital NDI in type IVa BS patients presenting with pronounced polyuria and hypernatremia.
  • Early diagnosis and intervention for this complication can lead to optimized clinical outcomes in affected infants.

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