{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T23:42:17Z","timestamp":1791502937954,"version":"4.3.4"},"reference-count":11,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,7,12]]},"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:p>Cystinosis is a multisystem disorder with varied presentations secondary to deposition of cystine crystals in different organ systems. Children with cystinosis typically present with renal tubular acidosis and failure to thrive. We report a 3-year-old girl, born to a third-degree consanguineous couple, who presented with failure to thrive and polyuria. Laboratory investigations showed metabolic alkalosis suggestive of a Bartter-like syndrome and acquired hypothyroidism. Although metabolic alkalosis is a rare manifestation of cystinosis, the presence of renal tubular dysfunction and hypothyroidism prompted consideration of a probable diagnosis of cystinosis in the index child. Slit-lamp examination revealed cystine crystals in the cornea and genetic analysis showed a mutation in exon 9 of the CTNS (cystinosin, lysosomal cystine transporter) gene on chromosome 17. We highlight the importance of considering cystinosis as a differential diagnosis for Bartter syndrome and hypothyroidism.<\/jats:p>","DOI":"10.1136\/bcr-2021-242954","type":"journal-article","created":{"date-parts":[[2021,7,26]],"date-time":"2021-07-26T12:41:40Z","timestamp":1627303300000},"page":"e242954","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Bartter syndrome and hypothyroidism masquerading cystinosis in a 3-year-old girl: rare manifestation of a rare disease"],"prefix":"10.1136","volume":"14","author":[{"given":"Gargi","family":"Das","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8117-0658","authenticated-orcid":false,"given":"Pamali Mahasweta","family":"Nanda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anupriya","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0039-2142","authenticated-orcid":false,"given":"Rakesh","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2021,7,26]]},"reference":[{"key":"2025082802300709000_14.7.e242954.1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00318.2010"},{"key":"2025082802300709000_14.7.e242954.2","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1179\/2295333714Y.0000000113","article-title":"Cystinosis: a new perspective","volume":"71","author":"Veys","year":"2016","journal-title":"Acta Clin Belg"},{"key":"2025082802300709000_14.7.e242954.3","unstructured":"Nesterova G , Gahl WA . Cystinosis. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle, 1993. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1400\/"},{"key":"2025082802300709000_14.7.e242954.4","doi-asserted-by":"crossref","first-page":"S5","DOI":"10.1016\/j.jpeds.2016.12.049","article-title":"Endocrine complications of cystinosis","volume":"183S","author":"Levtchenko","year":"2017","journal-title":"J Pediatr"},{"key":"2025082802300709000_14.7.e242954.5","doi-asserted-by":"crossref","first-page":"2349","DOI":"10.1210\/en.2014-1672","article-title":"A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress\/unfolded protein response and impaired lysosomal processing","volume":"156","author":"Gaide Chevronnay","year":"2015","journal-title":"Endocrinology"},{"key":"2025082802300709000_14.7.e242954.6","doi-asserted-by":"publisher","DOI":"10.1177\/000992288502400806"},{"key":"2025082802300709000_14.7.e242954.7","doi-asserted-by":"crossref","first-page":"101","DOI":"10.4274\/jcrpe.v3i2.21","article-title":"Cystinosis presenting with findings of Bartter syndrome","volume":"3","author":"\u00d6zkan","year":"2011","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"2025082802300709000_14.7.e242954.8","doi-asserted-by":"crossref","first-page":"277","DOI":"10.3109\/08860221003592804","article-title":"Rare presentation of cystinosis mimicking Bartter's syndrome: reports of two patients and review of the literature","volume":"32","author":"Caltik","year":"2010","journal-title":"Ren Fail"},{"key":"2025082802300709000_14.7.e242954.9","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0426-y"},{"key":"2025082802300709000_14.7.e242954.10","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1007\/s00467-014-3018-x","article-title":"Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy","volume":"30","author":"Nesterova","year":"2015","journal-title":"Pediatr Nephrol"},{"key":"2025082802300709000_14.7.e242954.11","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1016\/j.kint.2016.01.033","article-title":"Controversies and research agenda in nephropathic cystinosis: conclusions from a \"Kidney Disease: Improving Global Outcomes\" (KDIGO) Controversies Conference","volume":"89","author":"Langman","year":"2016","journal-title":"Kidney Int"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-242954","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:30:17Z","timestamp":1756373417000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-242954"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":11,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2021,7,26]]},"published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1136\/bcr-2021-242954"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-242954","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7]]}}}