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Primary biliary cholangitis presenting with Fanconi syndrome: An important phenotype

Lookup NU author(s): Dr Jess Dyson, Professor David Jones, Professor John SayerORCiD

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Abstract

© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. A woman in her 50s was referred to nephrology clinic due to progressive chronic kidney disease. She exhibited features of proximal renal tubulopathy, namely Fanconi syndrome, including normoglycaemic glycosuria, normal anion gap metabolic acidosis, and intermittent hypouricaemia and hypophosphataemia. Kidney biopsy showed tubulointerstitial inflammation and focal chronic damage. In addition, antimitochondrial antibodies were present and she had abnormal liver blood tests. A unifying diagnosis of primary biliary cholangitis with an associated renal tubulopathy and interstitial nephritis was made. She was commenced on sodium bicarbonate, ursodeoxycholic acid and oral prednisolone, leading to an improvement in liver biochemistry. Kidney function was stabilised, but a sustained improvement was not seen. This case acts as a reminder of the rare association of tubulointerstitial nephritis and Fanconi syndrome with primary biliary cholangitis, which may be an under-recognised phenotype.

Publication metadata

Author(s): Er C, Dyson J, Jones D, Sayer J

Publication type: Article

Publication status: Published

Journal: BMJ Case Reports

Year: 2022

Volume: 15

Issue: 8

Online publication date: 16/08/2022

Acceptance date: 29/07/2022

ISSN (electronic): 1757-790X

Publisher: BMJ Publishing Group

URL: https://doi.org/10.1136/bcr-2021-248461

DOI: 10.1136/bcr-2021-248461

PubMed id: 35973749

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