Pulmonary manifestations of Gaucher disease an increased risk for L444P homozygotes?

F. Santamaria, G. Parenti, G. Guidi, M. Filocamo, P. Strisciuglio, G. Grillo, V. Farina, P. Sarnelli, M. G. Rizzolo, A. Rotondo, G. Andria

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Pulmonary disease is a complication of Gaucher disease (GD), a lysosomal disorder due to the deficiency of glucocerebrosidase. Lung involvement was investigated through chest radiography, high-resolution computed tomography of the chest, pulmonary function tests (PFT), and oxygen saturation (Sao2) at 21% Fl(o2) in 13 Italian GD patients, six homoallelic for the L444P mutation (Group A), seven with various genotypes (Group B). Echocardiography and transcutaneous oxygen tension measurement at room air and after breathing 100% oxygen were performed to exclude pulmonary hypertension and/or intrapulmonary shunts. A score index (SI) including lung involvement evaluated the severity of GD. In three Group A patients with respiratory symptoms and in an asymptomatic male interstitial involvement was demonstrated; one child died of aspiration pneumonia. Group B patients had no signs of lung damage; PFT were normal in all cases but one. Sa(o2) was normal in both groups. Pulmonary vascular disease was ruled out in three cases with respiratory symptoms. In Groups A and B the median SI were 22 and 13, respectively (p <0.01). L444P homozygotes appear at major risk for developing pulmonary disease, even at earlier ages. A comprehensive evaluation of lung involvement is recommended primarily in these subjects.

Original languageEnglish
Pages (from-to)985-989
Number of pages5
JournalAmerican Journal of Respiratory and Critical Care Medicine
Issue number3 I
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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