Pulmonary Manifestations in Lysinuric Protein Intolerance

doi:10.1378/chest.104.4.1176

Chest

Volume 104, Issue 4, October 1993, Pages 1176-1182

https://doi.org/10.1378/chest.104.4.1176 Get rights and content

Study objectives

To evaluate the pulmonary manifestations and the course of acute respiratory insufficiency associated with lysinuric protein intolerance (LPI).

Design

Retrospective review of clinical data and 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 lungs, 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 LPI died in respiratory insufficiency, 1 adult had an episode of respiratory insufficiency, and another had chronic symptoms, whereas 25 patients remained symptom-free. The radiologic findings in acute progressive respiratory insufficiency were uniform: at first, reticulonodular interstitial densities and, later on, progressive airspace disease. At autopsy, three patients showed pulmonary alveolar proteinosis and one had pulmonary hemorrhage and cholesterol granulomas. One adult had reversible respiratory insufficiency with signs of bronchiolitis obliterans, another adult had recurrent episodes of chest pain, dyspnea, and hypoxia. Of the symptom-free patients, one third (8 of 25) had signs suggestive of pulmonary fibrosis evidenced on chest radiographs and two thirds (8 of 14) had signs evidenced by HRCT films. Most symptom-free patients showed mild abnormalities either in perfusion imaging (9 of 12) or in function tests (8 of 12).

Conclusion

In childhood, patients with LPI are highly predisposed to develop pulmonary hemorrhages and alveolar proteinosis. Interstitial lung densities may precede the acute phase. Most adult LPI patients show radiologic signs of interstitial lung disease but only a few show clinical impairment.

Section snippets

Patients

We analyzed clinical data accumulated on 31 of the 38 known Finnish LPI patients (12 men and 19 women; age range, 3.7 to 48.9 years; mean age, 26.9 years [Table 1]). The mean follow-up time was 17.5 years (range, 3.7 to 26.5 years). The patients were divided into groups according to the existence of respiratory symptoms: patients with fatal respiratory insufficiency (study group A), patients with serious respiratory complications (study group B), and patients without respiratory symptoms (study

Patients With Fatal Respiratory Insufficiency (Study Group A)

During the follow-up, four patients developed fatal respiratory insufficiency; all of them were children aged less than 15 years. The autopsy specimens of one patient showed massive pulmonary hemorrhage and cholesterol granulomas; the three other patients showed evidence of pulmonary hemorrhage and alveolar proteinosis.

In addition to LPI, two patients had a second systemic disease (SLE and hypothyroidism). Patients with fatal respiratory insufficiency did not differ from the patients without

Discussion

In the current study, the early radiologic findings of acute respiratory insufficiency associated with LPI included interstitial reticulonodular densities and progressive airspace disease. These nonspecific abnormalities are easily misinterpreted as signs of cardiac insufficiency and infection. The possibility of alveolar proteinosis and alveolar hemorrhage should be considered at an early stage.

Alveolar proteinosis is a disease of unknown origin characterized by the accumulation of large

Acknowledgments

The authors thank Professor E. Tala, Department of Respiratory Diseases, University of Turku, Turku, Finland, for review of the manuscript; the staff of the Department of Respiratory Diseases, University of Turku for performing bronchoalveolar lavage; E Taskinen, Transplantation Laboratory, University of Helsinki, Helsinki, Finland, for cell analysis of the bronchoalveolar lavage fluid; and Drs. M. Kallajoki and T. Ekfors, Department of Pathology, University of Turku, for histologic analysis of

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Chest

Clinical Investigations: MiscellaneousPulmonary Manifestations in Lysinuric Protein Intolerance

Study objectives

Design

Patients

Results

Conclusion

Section snippets

Patients

Patients With Fatal Respiratory Insufficiency (Study Group A)

Discussion

Acknowledgments

Lancet

Am J Med

Mayo Clin Proc

Biochem Pharmacol

Chest

Am J Med

Chest

J Pediatr

Am J Med

I Perheentupa J Rapola J. Lysinuric protein intolerance: undefined interstitial pneumonia, a lethal or life-threatening complication

Lysinuric protein intolerance and other cationic aminoacidurias

Coexisting endogenous lipoid pneumonia, cholesterol granulomas, and pulmonary alveolar proteinosis in a pediatric population: a clinical, radiographic, and pathologic correlation

Pediatr Path

Body plethysmographic studies in non-smoking, healthy adults

Scand J Clin Lab Invest Suppl

Clinical Investigations: Miscellaneous
Pulmonary Manifestations in Lysinuric Protein Intolerance