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Renal Apolipoprotein A-I Amyloidosis: A Rare and Usually Ignored Cause of Hereditary Tubulointerstitial Nephritis

Gina Gregorini^*, Claudia Izzi^*, Laura Obici, Regina Tardanico, Christoph Röcken, Battista Fabio Viola^*, Mariano Capistrano^*, Simona Donadei, Luciano Biasi^||, Tiziano Scalvini^¶, Giampaolo Merlini and Francesco Scolari^*

^* Division of Nephrology, Pathology Department, ^|| Division of Infectious Diseases, and ^¶ Department of Internal Medicine, Spedali Civili, Brescia, Italy; Amyloid Center, Biotechnology Research Laboratories, IRCCS San Matteo, Pavia, Italy; and Department Pathology, Otto von Guericke University of Magdeburg, Magdeburg, Germany

Address correspondence to: Dr. Francesco Scolari, Cattedra e Divisione di Nefrologia, Università e Spedali Civili, Piazza le Spedali Civili 1, Brescia 25125, Italy. Phone: +39-030-3995628; Fax: +39-030-3995012; E-mail: fscolar{at}tin.it

Received for publication April 11, 2005. Accepted for publication August 22, 2005.

Apolipoprotein A-I amyloidosis is a rare, late-onset, autosomal dominant condition characterized by systemic deposition of amyloid in tissues, the major clinical problems being related to renal, hepatic, and cardiac involvement. Described is the clinical and histologic picture of renal involvement as a result of apolipoprotein A-I amyloidosis in five families of Italian ancestry. In all of the affected family members, the disease was caused by the Leu75Pro heterozygous mutation in exon 4 of apolipoprotein A-I gene, as demonstrated by direct sequencing and RFLP analysis. Immunohistochemistry confirmed that amyloid deposits were specifically stained with an anti-apolipoprotein A-I antibody. The clinical phenotype was mainly characterized by a variable combination of kidney and liver disturbance. The occurrence of renal involvement seemed to be almost universal, although its severity varied greatly ranging from subclinical organ damage to overt, slowly progressive renal dysfunction. The renal presentation was consistent with a tubulointerstitial disease, as suggested by the findings of defective urine-concentrating capacity, moderate polyuria, negative urinalysis, and mild tubular proteinuria. Histology confirmed tubulointerstitial nephritis. Surprising, amyloid was restricted to nonglomerular regions and limited to the renal medulla. This location of apolipoprotein A-I amyloid differs sharply from other systemic amyloidoses that are mainly characterized by glomerular and vascular deposits. The tubulointerstitial nephritis as a result of hereditary apolipoprotein A-I amyloidosis is a rare disease and a challenging diagnosis to recognize. Patients who present with familial tubulointerstitial nephritis associated with liver disease require a high index of suspicion for apolipoprotein A-I amyloidosis.

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Copyright © 2008 by the American Society of Nephrology. Online ISSN: 1533-3450 Print ISSN: 1046-6673