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Primary biliary cholangitis presenting with Fanconi syndrome: an important phenotype
Chaoxui Er1, Jessica Dyson2, David Jones2
1Renal Medicine, Freeman Hospital, Newcastle-upon-Tyne, UK cer@nhs.net.
BMJ Case Reports
|August 16, 2022
Summary
This case highlights a rare kidney condition, Fanconi syndrome, linked to primary biliary cholangitis. Early recognition of this tubulointerstitial nephritis phenotype is crucial for patient management.
Area of Science:
- Nephrology
- Hepatology
- Immunology
Background:
- Primary biliary cholangitis (PBC) is a chronic liver disease.
- Renal tubulopathies, such as Fanconi syndrome, can manifest with diverse symptoms.
- The association between PBC and renal involvement is uncommon.
Observation:
- A woman in her 50s presented with progressive chronic kidney disease.
- She displayed symptoms of Fanconi syndrome, including glycosuria and metabolic acidosis.
- Kidney biopsy revealed tubulointerstitial inflammation, and antimitochondrial antibodies were detected.
Findings:
- A unifying diagnosis of primary biliary cholangitis with associated renal tubulopathy and interstitial nephritis was established.
- Treatment with sodium bicarbonate, ursodeoxycholic acid, and prednisolone improved liver function.
- Kidney function stabilized but did not show sustained improvement.
Implications:
- This case underscores a rare phenotype of PBC involving tubulointerstitial nephritis and Fanconi syndrome.
- Increased awareness may improve diagnosis and management of this under-recognized condition.
- Further research into the mechanisms linking PBC and renal disease is warranted.
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