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

Am J Respir Crit Care Med. 1998 Mar;157(3 Pt 1):985-9. doi: 10.1164/ajrccm.157.3.9706057.


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.

MeSH terms

  • Adolescent
  • Adult
  • Blood Gas Monitoring, Transcutaneous
  • Cause of Death
  • Child
  • Child, Preschool
  • Echocardiography
  • Female
  • Gaucher Disease / complications*
  • Gaucher Disease / genetics
  • Genotype
  • Homozygote*
  • Humans
  • Hypertension, Pulmonary / prevention & control
  • Infant
  • Italy
  • Leucine / genetics*
  • Lung / blood supply
  • Lung Diseases / diagnosis
  • Lung Diseases / diagnostic imaging
  • Lung Diseases / etiology*
  • Lung Diseases, Interstitial / etiology
  • Male
  • Middle Aged
  • Oxygen / administration & dosage
  • Oxygen Consumption
  • Pneumonia, Aspiration / etiology
  • Point Mutation / genetics*
  • Proline / genetics*
  • Prospective Studies
  • Respiratory Function Tests
  • Risk Factors
  • Tomography, X-Ray Computed
  • Vascular Diseases / diagnosis


  • Proline
  • Leucine
  • Oxygen