PULMONARY MANIFESTATIONS IN LYSINURIC PROTEIN INTOLERANCE

Study objectives: To evaluate the pulmonary manifestations and the cou rse of acute respiratory insufficiency associated with lysinuric prote in intolerance (LPI). Design: Retrospective review of clinical data an d chest radiographs (total 225) obtained during the lifetime followup of 31 LPI patients. About half of the 25 patients without respiratory symptoms underwent high-resolution computed tomography (HRCT) of the l ungs, radionuclide perfusion imaging, whole body plethysmography, and diffusing capacity measurements. Patients: Thirty-one Finnish patients with LPI. Results: During the follow-up period, four children with LP I died in respiratory insufficiency, 1 adult had an episode of respira tory insufficiency, and another bad chronic symptoms, whereas 25 patie nts remained symptom-free. The radiologic findings in acute progressiv e respiratory insufficiency were uniform: at first, reticulonodular in terstitial densities and, later on, progressive airspace disease. At a utopsy, three patients showed pulmonary alveolar proteinosis and one h ad pulmonary hemorrhage and cholesterol granulomas. One adult had reve rsible respiratory insufficiency with signs of bronchiolitis obliteran s, another adult had recurrent episodes of chest pain, dyspnea, and hy poxia. Of the symptom-free patients, one third (8 of 25) had signs sug gestive of pulmonary fibrosis evidenced on chest radiographs and two t hirds (8 of 14) had signs evidenced by HRCT films. Most symptom-free p atients showed mild abnormalities either in perfusion imaging (9 of 12 ) or in function tests (8 of 12). Conclusion: In childhood, patients w ith LPI are highly predisposed to develop pulmonary hemorrhages and al veolar proteinosis. Interstitial lung densities may precede the acute phase. Most adult LPI patients show radiologic signs of interstitial l ung disease but only a few show clinical impairment.