help button home button
AJRCCM
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by SANTAMARIA, F.
Right arrow Articles by ANDRIA, G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by SANTAMARIA, F.
Right arrow Articles by ANDRIA, G.

Am. J. Respir. Crit. Care Med., Volume 157, Number 3, March 1998, 985-989

Pulmonary Manifestations of Gaucher Disease
An Increased Risk for L444P Homozygotes?

FRANCESCA SANTAMARIA, GIANCARLO PARENTI, GUIDO GUIDI, MIRELLA FILOCAMO, PIETRO STRISCIUGLIO, GIACOMO GRILLO, VINCENZO FARINA, PAOLA SARNELLI, MARIA GRAZIA RIZZOLO, ANTONIO ROTONDO, and GENEROSO ANDRIA

Departments of Pediatrics and Radiology, Federico II University, Naples; Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Giannina Gaslini Institute, Genoa; Department of Pediatrics, University of Reggio Calabria, Catanzaro, and Institute of Radiology, University of Bari, Italy

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% FIO2 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.




This article has been cited by other articles:


Home page
 J. Med. Genet.Home page
O Goker-Alpan, K S Hruska, E Orvisky, P S Kishnani, B K Stubblefield, R Schiffmann, and E Sidransky
Divergent phenotypes in Gaucher disease implicate the role of modifiers
J. Med. Genet., June 1, 2005; 42(6): e37 - e37.
[Abstract] [Full Text] [PDF]

Home page
 Postgrad. Med. J.Home page
A G Rockall, D Rickards, and P J Shaw
Imaging of the pulmonary manifestations of systemic disease
Postgrad. Med. J., October 1, 2001; 77(912): 621 - 638.
[Full Text] [PDF]

Home page
 QJMHome page
O. Goitein, D. Elstein, A. Abrahamov, I. Hadas-Halpern, E. Melzer, E. Kerem, and A. Zimran
Lung involvement and enzyme replacement therapy in Gaucher's disease
QJM, August 1, 2001; 94(8): 407 - 415.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Proc. Am. Thorac. Soc. Am. J. Respir. Cell Mol. Biol.
Copyright © 1998 American Thoracic Society