Primary Biliary Cholangitis Presenting with Fanconi Syndrome: an Important Phenotype

Overview

Journal BMJ Case Rep

Specialty General Medicine

Date 2022 Aug 16

PMID 35973749

Authors

Chaoxui Er

Jessica Dyson

David Jones

John Sayer

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Rare renal proximal tubular dysfunctions in primary biliary cholangitis.

Shi X, Guo T, Wen Y, Ye W, Ye W, Zheng K Ren Fail. 2024; 46(1):2302409.

PMID: 38275162 PMC: 10823888. DOI: 10.1080/0886022X.2024.2302409.

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