{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T09:10:22Z","timestamp":1756285822995,"version":"3.44.0"},"reference-count":14,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,4,7]]},"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:p>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.<\/jats:p>\n               <jats:p>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.<\/jats:p>\n               <jats:p>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.<\/jats:p>","DOI":"10.1136\/bcr-2025-265159","type":"journal-article","created":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T15:20:20Z","timestamp":1745335220000},"page":"e265159","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Rare co-occurrence of severe vitamin A deficiency in an early adolescent girl with Bartter syndrome"],"prefix":"10.1136","volume":"18","author":[{"given":"Muhammad Sikandar","family":"Tahir","sequence":"first","affiliation":[{"name":"Paediatrics, University Hospital Waterford, Waterford, County Waterford, Ireland"},{"name":"Paediatrics, HSE, Waterford, Waterford, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Imran","family":"Riazat","sequence":"additional","affiliation":[{"name":"Paediatrics, University Hospital Waterford, Waterford, County Waterford, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dean","family":"Huggard","sequence":"additional","affiliation":[{"name":"Paediatrics, University Hospital Waterford, Waterford, County Waterford, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehdi","family":"Abbas","sequence":"additional","affiliation":[{"name":"Paediatrics, University Hospital Waterford, Waterford, County Waterford, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,4,22]]},"reference":[{"key":"2025082701340349000_18.4.e265159.1","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1097\/MOP.0000000000001110","article-title":"Recognizing vitamin A deficiency: special considerations in low-prevalence areas","volume":"34","author":"Song","year":"2022","journal-title":"Curr Opin Pediatr"},{"key":"2025082701340349000_18.4.e265159.2","doi-asserted-by":"crossref","unstructured":"Sommer A . Vitamin a deficiency. In: eLS. John Wiley & Sons, Ltd, 2001. Available: https:\/\/doi.org\/10.1038\/npg.els.0002106","DOI":"10.1038\/npg.els.0002106"},{"key":"2025082701340349000_18.4.e265159.3","unstructured":"World Health Organization . Global prevalence of vitamin a deficiency in populations at risk 1995\u20132005. who global database on vitamin a deficiency. Geneva World Health Organization; 2009."},{"key":"2025082701340349000_18.4.e265159.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.nut.2004.01.014"},{"key":"2025082701340349000_18.4.e265159.5","doi-asserted-by":"crossref","first-page":"6466","DOI":"10.1017\/S1368980021003347","article-title":"Vitamin A deficiency: experience from a tertiary referral UK hospital; not just a low- and middle-income country issue","volume":"24","author":"Marley","year":"2021","journal-title":"Public Health Nutr"},{"key":"2025082701340349000_18.4.e265159.6","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(62)90214-0"},{"key":"2025082701340349000_18.4.e265159.7","unstructured":"Bokhari SRA , Zulfiqar H , Mansur A . Bartter syndrome. Treasure Island (FL): StatPearls Publishing, 2023. Available: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK442019\/"},{"key":"2025082701340349000_18.4.e265159.8","doi-asserted-by":"crossref","first-page":"291","DOI":"10.2147\/IJNRD.S155397","article-title":"Bartter syndrome: causes, diagnosis, and treatment","volume":"11","author":"Cunha","year":"2018","journal-title":"Int J Nephrol Renovasc Dis"},{"key":"2025082701340349000_18.4.e265159.9","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1007\/s00467-004-1527-8","article-title":"Bartter syndrome: benefits and side effects of long-term treatment","volume":"19","author":"Vaisbich","year":"2004","journal-title":"Pediatr Nephrol"},{"key":"2025082701340349000_18.4.e265159.10","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)91843-0"},{"key":"2025082701340349000_18.4.e265159.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2020.10.035"},{"key":"2025082701340349000_18.4.e265159.12","doi-asserted-by":"crossref","DOI":"10.57187\/smw.2023.40097","article-title":"Vitamin A deficiency retinopathy related to medical interventions in a Swiss cohort: a case series","volume":"153","author":"Gunzinger","year":"2023","journal-title":"Swiss Med Wkly"},{"key":"2025082701340349000_18.4.e265159.13","article-title":"A Multifaceted Presentation of Xerophthalmia in Autistic Patients","volume":"15","author":"Azmi","year":"2023","journal-title":"Cureus"},{"key":"2025082701340349000_18.4.e265159.14","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.oret.2023.08.021","article-title":"Characteristics of Vitamin A Deficiency Retinopathy at a Tertiary Referral Center in the United States","volume":"8","author":"Levine","year":"2024","journal-title":"Ophthalmol Retina"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-265159","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T08:34:14Z","timestamp":1756283654000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-265159"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2025,4,22]]},"published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1136\/bcr-2025-265159"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-265159","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,4]]}}}