Kidney involvement in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in a Finnish cohort.
BACKGROUND
Autoimmune tubulo-interstitial nephritis (TIN) is a rare complication of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Previous data on TIN and other renal or urologic manifestations of APECED are sparse.


METHODS
We performed a retrospective study on the urinary and renal tract diseases in a cohort of 30 Finnish patients with APECED (mean age 40 years), with special emphasis on the clinical presentation and the immunologic characteristics of TIN. Clinical and laboratory findings, specific anticytokine and kidney-specific antibodies were analysed.


RESULTS
Five of the 30 (17%) patients had moderate-to-severe renal failure, including 3 (10%) with TIN, leading to either transplantation, haemodialysis or immunosuppressive treatment. No other cause other than APECED was found for the TIN. All three patients with TIN had circulating antibodies against the distal part of the nephron, as did 30% of all cohort cases. Two had nephrocalcinosis, and two had renal tubular acidosis type 1. Immunosuppressive therapy with mycophenolate mofetil or rituximab in one pediatric case did not revert the TIN, however.


CONCLUSIONS
Renal failure should raise concern for TIN in APECED. It discloses some specific features: no uveitis, no glycosuria and inconstant urinalysis anomalies. Regular renal monitoring for any APECED patient should be performed. Circulating antibodies against the distal part of the nephron are frequent and present in all TIN patients, but their pathologic significance is not yet known. Future studies will be needed to understand the triggers leading to overt clinical disease in these patients.
Department of Dermatology, Allergology and Venereology, Institute of Clinical Medicine, University of Helsinki, Skin and Allergy Hospital, Helsinki University Central Hospital, Helsinki, Finland.
Nicolas
N
Kluger
Department of Pediatrics, Hospital District of South West Finland Turku, Turku, Finland.
Janne
J
Kataja
TYKS-SAPA-liikelaitos, Hospital District of South West Finland, Turku, Finland.
Heikki
H
Aho
Department of Dermatology, Allergology and Venereology, Institute of Clinical Medicine, University of Helsinki, Skin and Allergy Hospital, Helsinki University Central Hospital, Helsinki, Finland.
Ann-Mari
AM
Rönn
HUCH, Clinical Research Institute HUCH Ltd, Helsinki, Finland.
Kai
K
Krohn
Department of Dermatology, Allergology and Venereology, Institute of Clinical Medicine, University of Helsinki, Skin and Allergy Hospital, Helsinki University Central Hospital, Helsinki, Finland.
Annamari
A
Ranki
D000293:Adolescent; D000328:Adult; D058846:Antibodies, Monoclonal, Murine-Derived / Q000627:therapeutic use; D002648:Child; D003404:Creatinine / Q000097:blood; D005260:Female; D005387:Finland; D019084:Fluorescent Antibody Technique, Indirect; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D009173:Mycophenolic Acid / Q000031:analogs & derivatives / Q000627:therapeutic use; D009395:Nephritis, Interstitial / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications* / Q000503:physiopathology*; D012189:Retrospective Studies; D000069283:Rituximab; D055815:Young Adult
D058846:Antibodies, Monoclonal, Murine-Derived; D007155:Immunologic Factors; D007166:Immunosuppressive Agents; D000069283:Rituximab; D003404:Creatinine; D009173:Mycophenolic Acid
autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy; chronic renal failure; transplantation; tubular renal acidosis; tubulo-interstitial nephritis