PULMONARY MANIFESTATIONS OF GAUCHER-DISEASE - AN INCREASED RISK FOR L444P HOMOZYGOTES

Pulmonary disease is a complication of Gaucher disease (GD), a lysosom al disorder due to the deficiency of glucocerebrosidase. Lung involvem ent was investigated through chest radiography, high-resolution comput ed tomography of the chest, pulmonary function tests (PFT), and oxygen saturation (Sa(O2)) at 21% Fi(O2) in 13 Italian GD patients, six homo allelic for the L444P mutation (Group A), seven with various genotypes (Group B). Echocardiography and transcutaneous oxygen tension measure ment at room air and after breathing 100% oxygen were performed to exc lude pulmonary hypertension and/or intrapulmonary shunts. A score inde x (SI) including lung involvement evaluated the severity of GD. In thr ee Group A patients with respiratory symptoms and in an asymptomatic m ale interstitial involvement was demonstrated; one child died of aspir ation pneumonia. Group B patients had no signs of lung damage; PFT wer e normal in all cases but one. Sa(O2) was normal in both groups. Pulmo nary vascular disease was ruled out in three cases with respiratory sy mptoms. In Groups A and B the median SI were 22 and 13, respectively ( p < 0.01). L444P homozygotes appear at major risk for developing pulmo nary disease, even at earlier ages. A comprehensive evaluation of lung involvement is recommended primarily in these subjects.