Renal apolipoprotein A-I amyloidosis

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Renal Apolipoprotein A-I Amyloidosis: A Rare and Usually Ignored Cause of Hereditary Tubulointerstitial Nephritis (J Am Soc Nephrol. 2005 Oct 12 ). Authors are Gregorini G, Izzi C, Obici L et al., from the Division of Nephrology, Ospedali Civili, Brescia, Italy; IRCCS San Matteo, Pavia, Italy; and Department Pathology, Otto von Guericke University of Magdeburg, Germany. 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. The clinical phenotype was mainly characterized by a variable combination of kidney and liver disturbance. Histology confirmed tubulointerstitial nephritis. 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. To access the full abstract of the article, click here.