Am. J. Respir. Crit. Care Med., Vol 153, No. 2, Feb 1996, 731-735.
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods
F Santamaria, G Parenti, G Guidi, A Rotondo, G Grillo, MR Larocca, L Celentano, P Strisciuglio, G Sebastio and G Andria
Department of Pediatrics, Federico II University, Naples, Italy.
Pulmonary disease of unknown etiology is a potentially fatal complication
in patients with lysinuric protein intolerance (LPI), an autosomal
recessive disorder caused by the defective transport of cationic amino
acids. Lung involvement was investigated in nine Italian LPI patients
through pulmonary function tests and lung imaging studies consisting of
conventional chest radiography, high-resolution computed tomography (HRCT),
and perfusion and ventilation scintigraphy. One 10- yr-old patient died of
severe respiratory insufficiency from alveolar proteinosis. All of the
remaining patients were asymptomatic at the time of the study, although
HRCT scans revealed signs of lung involvement defined by the presence of
acinar nodules, inter- and/or intralobular thickening of the interstitial
septa, and subpleural cysts in five of the patients. Radioisotope studies
showed an uneven distribution of perfusion and ventilation, and confirmed
the presence of segmental and/or diffuse pulmonary functional defects. No
abnormalities of pulmonary function were evident, and answers to a
questionnaire excluded primary coexisting lung disease. In patients with
LPI, including those without clinical and functional impairment, HRCT and
radioisotopic studies appear to be the most sensitive methods for the early
diagnosis of lung disease and correct assessment of its progression.
