A 5-year-old male child with complaints of failure to thrive (since 4 months of age) and developmental delay presented to the nephrology department with complaints of weakness in all four limbs for 5 days. On examination, he was hypotensive, dehydrated, and had reduced tone in all four limbs. Biochemistry revealed acute kidney injury (AKI), hyponatremia, hypocalcemia, and hypokalemia. Renal needle biopsy (in view of unexplained AKI) revealed ropy, granular pigment casts with marked tubular injury. Myoglobin stain was positive. The positive genetic analysis of the patient (CLCNKB gene) confirmed the clinical diagnosis of Bartter syndrome (BS). The child was managed with aggressive intravenous hydration with potassium and calcium supplementation, and AKI recovered.
© Journal of the Association of Physicians of India 2024.