Abstract
Lysinuric protein intolerance (LPI) is an autosomal recessive metabolic disease caused by defective transport of cationic amino acids on the basolateral :membrane of epithelial cells and the plasma membrane of parenchymal cells. The transport defect is expressed in the intestinal enterocyte, kidney tubules, hepatocytes and skin fibroblasts (Perheentupa and Visakorpi 1965; Rajantie et al 1980a,b,c, 1981; Smith et al 1987; Simell 1995). Urinary excretion of lysine, arginine and ornithine is increased while intestinal absorption is decreased. Patients with LPI have a marked tendency to develop acute progressive respiratory insufficiency as well as haematological and renal complications (Rajantie et al 1981). The acute respiratory insufficiency is more common in children and has been associated with pulmonary haemorrhage and/or alveolar proteinosis (DiRocco et al 1993; Parto et al 1993; Kerem et al 1993). An immunological basis for these life-threatening complications has been suggested in one patient (Nagata et al 1987), but generally the immunological responses in LPI are not defined. In this case study, we present evidence that immune complex disease may be more common than previously thought in patients with LPI.
Published Version
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