Primary biliary cholangitis presenting with Fanconi syndrome: an important phenotype.
BMJ Case Rep
; 15(8)2022 Aug 16.
Article
in En
| MEDLINE
| ID: mdl-35973749
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Fanconi Syndrome
/
Liver Cirrhosis, Biliary
/
Nephritis, Interstitial
Type of study:
Diagnostic_studies
/
Etiology_studies
Limits:
Female
/
Humans
Language:
En
Journal:
BMJ Case Rep
Year:
2022
Document type:
Article
Affiliation country:
Reino Unido