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This version published online on November 1, 2005
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2005-1538
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Submitted on July 12, 2005
Accepted on October 26, 2005

APECED syndrome with renal failure: impact of post transplant immunosuppression on disease activity

Tim Ulinski*, Laurence Perrin, Michael Morris, Muriel Houang, Sylvie Cabrol, Christine Grapin, Nathalie Chabbert-Buffet, Albert Bensman, Georges Deschênes, and Irina Giurgea

T. Ulinski, L. Perrin, A. Bensman, G. Deschênes, Department of Pediatric Nephrology; Hôpital Trousseau; 26, avenue du Dr. Arnold-Netter; 75571 Paris Cedex 12, France, E-mail: tim.ulinski@trs.aphp.fr, Tel: +33 1 44 73 67 63, Fax: +33 1 44 73 66 63; M. Morris, Division of Medical Genetics, Centre Medical Universitaire, 1 rue Michel Servet, 1121 Genève, Switzerland; M. Houang, S. Cabrol, Department of Pediatric Endocrinology, Hôpital Trousseau; Paris, France; C. Grapin, Department of Pediatric Surgery, Hôpital Trousseau; Paris, France; N. Chabbert-Buffet, Department of Endocrinology and Diabetes, Hôpital Tenon, Paris, France; I. Giurgea, Department of Genetics, Hôpital Henri Mondor, 94010 Créteil, France

* To whom correspondence should be addressed. E-mail: tim.ulinski{at}trs.aphp.fr.

Context. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the gene AIRE (autoimmune regulator). APECED affects mainly endocrine organs resulting in hypoparathyroidism, adrenocortical failure, diabetes mellitus, hypogonadism, and hypothyroidism. Non-endocrine organ manifestations are autoimmune hepatitis, vitiligo, pernicious anemia, exocrine pancreatic insufficiency, and alopecia. APECED's first manifestation generally is mucocutaneous candidiasis presumably related to T-cell dysfunction.

Patient. A five-year-old Iranian girl presented first with pernicious anemia, exocrine pancreatic insufficiency and nail candidiasis. She had renal dysfunction due to chronic interstitial nephritis (CIN) which progressed to end-stage renal failure (ESRF). She was transplanted one year later. Common causes of CIN were excluded. APECED was suspected first as she developed progressively hypoparathyroidism, adrenocortical failure, glucose intolerance and hypothyroidism.

Results. Genetic analysis revealed a large homozygous deletion (g.424 2157del1734), spanning exon 2 to 4, in the AIRE gene. The predicted protein, if it is produced, has only 44 amino acids (exon 1) in common with the wild-type protein.

Immunosuppression after the first renal transplant included prednisone, azathioprine, and cyclosporine A. Multiple acute rejection episodes occurred. Chronic rejection resulted in graft lost and she was retransplanted two years later. Surprisingly, all APECED related symptoms including candidiasis and autoantibody levels decreased presumably due to the reinforced immunosuppression (tacrolimus, mycophenolate mofetil, prednisone).

Conclusion. This is the first report of an APECED patient with CIN resulting in ESRF. Clinical and biological improvement was observed under post transplant multi-drug immunosuppression including tacrolimus and mycophenolate mofetil.
Key words: APECED syndrome • AIRE gene mutation • renal failure • immunosuppression




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