Pulmonary involvement in siblings with Gaucher disease type III

Abstract

Introduction. Pulmonary involvement has been described in all types of Gaucher disease (GD) but it is considered as relatively rare manifestation. There are reports suggesting that homozygosity for L444P mutation in GBA gene is associated with a substantial risk for developing primary pulmonary disease in GD. Case report. We reported sisters with pulmonary involvement in GD type III. Respiratory failure with fatal outcome at 3 years and 4 months of age occurred in K.K. due to pulmonary complications of GD. At the time enzyme replacement therapy (ERT) was not available in Serbia. J.K., homozygous for L444P mutation, developed asymptomatic pulmonary involvement at the age of 6 after 2.5 years of ERT. Pulmonary disease in J.K. was verified by high resolution computerized tomography, cytology of bronchoalveolar lavage fluid and histopathology of transbronchial lung biopsy. Conclusion. Primary lung disease in children homoallelic for L444P mutation in GBA gene emerges as a significant clinical manifestation of GD with unclear response to ERT.Uvod. Plucne manifestacije opisane su kod sva tri tipa Goseove bolesti, ali se smatraju relativno retkom komplikacijom ove nasledne bolesti. Pojedine studije ukazuju da homozigotnost za mutaciju L444P u genu GBA predstavlja faktor rizika od razvijanja primarnog plucnog zahvatanja u sklopu Goseove bolesti. Prikaz slucaja. Prikazali smo sestre sa plucnim komplikacijama Goseove bolesti. Respiratorna insuficijencija i smrtni ishod u uzrastu od tri godine i cetiri meseca kod devojcice K.K. objasnjeni su plucnim komplikacijama Goseove bolesti. U to vreme enzimska supstituciona terapija nije bila dostupna u Srbiji. Njena sestra J.K, L444P homozigot, razvila je asimptomatske plucne manifestacije u uzrastu od sest godina, nakon dve i po godine enzimske supstitucione terapije. Plucna bolest potvrdjena je visokorezolutivnom kompjuterizovanom tomografijom (KT) pluca, citoloskim pregledom bronhoalveolarnog lavata i histopatoloskim pregledom uzorka dobijenog transbronhijalnom biopsijom pluca. Zakljucak. Primarna plucna bolest kod dece homozigotne za L444P mutaciju u genu GBA istice se kao znacajna klinicka manifestacija Goseove bolesti sa nedovoljno jasnim odgovorom na enzimsku terapiju.