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% FI(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. SaO2 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.

Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes? / Santamaria, Francesca; Parenti, Giancarlo; Guidi, G; Filocamo, M; Strisciuglio, Pietro; Grillo, G; Farina, Vincenzo; Sarnelli, P; Rizzolo, Mg; Rotondo, A; Andria, Generoso. - In: AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE. - ISSN 1073-449X. - STAMPA. - 157:(1998), pp. 985-989.

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

SANTAMARIA, FRANCESCA;PARENTI, GIANCARLO;STRISCIUGLIO, PIETRO;FARINA, VINCENZO;ANDRIA, GENEROSO
1998

Abstract

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% FI(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. SaO2 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.
1998
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes? / Santamaria, Francesca; Parenti, Giancarlo; Guidi, G; Filocamo, M; Strisciuglio, Pietro; Grillo, G; Farina, Vincenzo; Sarnelli, P; Rizzolo, Mg; Rotondo, A; Andria, Generoso. - In: AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE. - ISSN 1073-449X. - STAMPA. - 157:(1998), pp. 985-989.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/344232
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