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Case Reports: Unusual association of diseases/symptoms
Primary biliary cholangitis presenting with Fanconi syndrome: an important phenotype
  1. Chaoxui Er1,
  2. Jessica Dyson2,
  3. David Jones2 and
  4. John Sayer1
  1. 1Renal Medicine, Freeman Hospital, Newcastle-upon-Tyne, UK
  2. 2Hepatology, Freeman Hospital, Newcastle-upon-Tyne, UK
  1. Correspondence to Dr Chaoxui Er; cer{at}nhs.net

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.

  • liver disease
  • renal medicine
  • fluid electrolyte and acid-base disturbances
  • proteinurea
  • diabetes

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

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    Footnotes

    • Contributors CE and JS conceived the study, collated data and wrote the first draft. JD and DJ revised and edited the draft. All authors approved the final manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests JS has received support from Northern Counties Kidney Research Fund and Kidney Research UK for the present manuscript, and speaker honoraria from Sanofi and Takeda. JD has received speaker honararia from Dr Falk Pharma and Intercept, and support for attending meeting from Intercept.

    • Provenance and peer review Not commissioned; externally peer reviewed.