BMJ Case Rep. 2025 Apr 22;18(4):e265159. doi: 10.1136/bcr-2025-265159.
ABSTRACT
We report a rare case of an early adolescent girl with Bartter syndrome presenting with severe vitamin A deficiency, characterised by decreased visual acuity, xerophthalmia and corneal ulceration. The deficiency appears to have resulted from poor nutritional intake due to a restricted diet, unhealthy dietary choices compounded by gastrointestinal discomfort and the challenges posed by Bartter syndrome.The patient, diagnosed in her early infancy with Bartter syndrome, exhibited features typical of this inherited renal tubular disorder, including electrolyte imbalance, polyuria and failure to thrive. Her long-standing gastrointestinal discomfort, likely related to high-dose non-steroidal anti-inflammatory drugs (indomethacin) and oral potassium supplements, further compromised her nutritional intake.She was managed with high-dose vitamin A supplementation, resulting in partial visual recovery. This case underscores the importance of monitoring fat-soluble vitamin levels in Bartter syndrome patients, who are at risk for malabsorption and dietary deficiencies. We suggest that routine screening for Vitamin A deficiency in patients with Barter syndrome may be beneficial, though this recommendation is derived from our observation from this case rather than established evidence.
PMID:40262923 | DOI:10.1136/bcr-2025-265159