title: Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes?
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.
authors.affiliation: Department of Pediatrics, Federico II University, Naples, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Santamaria
authors.forename: G
authors.initials: G
authors.lastname: Parenti
authors.forename: G
authors.initials: G
authors.lastname: Guidi
authors.forename: M
authors.initials: M
authors.lastname: Filocamo
authors.forename: P
authors.initials: P
authors.lastname: Strisciuglio
authors.forename: G
authors.initials: G
authors.lastname: Grillo
authors.forename: V
authors.initials: V
authors.lastname: Farina
authors.forename: P
authors.initials: P
authors.lastname: Sarnelli
authors.forename: M G
authors.initials: MG
authors.lastname: Rizzolo
authors.forename: A
authors.initials: A
authors.lastname: Rotondo
authors.forename: G
authors.initials: G
authors.lastname: Andria
mesh_terms: D000293:Adolescent; D000328:Adult; D001785:Blood Gas Monitoring, Transcutaneous; D002423:Cause of Death; D002648:Child; D002675:Child, Preschool; D004452:Echocardiography; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000235:genetics; D005838:Genotype; D006720:Homozygote; D006801:Humans; D006976:Hypertension, Pulmonary / Q000517:prevention & control; D007223:Infant; D007558:Italy; D007930:Leucine / Q000235:genetics*; D008168:Lung / Q000098:blood supply; D008171:Lung Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000209:etiology*; D017563:Lung Diseases, Interstitial / Q000209:etiology; D008297:Male; D008875:Middle Aged; D010100:Oxygen / Q000008:administration & dosage; D010101:Oxygen Consumption; D011015:Pneumonia, Aspiration / Q000209:etiology; D017354:Point Mutation / Q000235:genetics*; D011392:Proline / Q000235:genetics*; D011446:Prospective Studies; D012129:Respiratory Function Tests; D012307:Risk Factors; D014057:Tomography, X-Ray Computed; D014652:Vascular Diseases / Q000175:diagnosis
chemical_list: D011392:Proline; D007930:Leucine; D010100:Oxygen