PULMONARY-FUNCTION ABNORMALITIES IN TYPE-I GAUCHER DISEASE

The purpose of this study was to determine the prevalence of pulmonary function and radiographic abnormalities among patients with type I Ga ucher's disease, and to analyse the relationship between the pulmonary involvement and genotype and clinical severity score. All patients at tending the Gaucher clinic at the Shaare Zedek Medical Center, Jerusal em, Israel, during the years 1992-1993 were prospectively evaluated. E ach patient had pulmonary function tests, chest radiography, clinical assessment in terms of degree of organ involvement, and genotype analy sis. Of the 95 patients included in the study (mean+/-SD age 29+/-15 y rs), 68% had some pulmonary function abnormalities, most commonly a re duced FRC and transfer coefficient for carbon monoxide (KCO), found in 45% and in 42% of the patients respectively. Total lung capacity (TLC ) was reduced in 228 of the patients and forced expiratory flows in ap proximately one third of the patients. Signs of air-trapping (elevated residual volume (RV) or RV/TLC) were seen in 18% of the patients. Mal es had a higher incidence of reduced expiratory Bow than females, (for ced expiratory volume in one second (FEV1) was reduced in 36% of males vs 5% of females). Chest radiographic abnormalities were found in 17% of the patients, although only 4% had severe changes. Patients with a bnormal pulmonary function had a significantly higher severity score i ndex than those with normal pulmonary function tests. There was no ass ociation between abnormal pulmonary function and genotype or age. In c onclusion, abnormal pulmonary function is common among type I Gaucher patients. Pulmonary function tests show airways obstruction, with redu ced expiratory flows, reduction in lung volumes and alveolar-capillary diffusion abnormality. The rate of progression and the clinical signi ficance need to be determined.