2019
Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in gaucher disease
Goobie GC, Sirrs SM, Yee J, English JC, Bergeron C, Nador R, Swiston JR, Mistry PK, Paquin W, Levy RD. Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in gaucher disease. Respiratory Medicine Case Reports 2019, 28: 100893. PMID: 31334026, PMCID: PMC6624456, DOI: 10.1016/j.rmcr.2019.100893.Peer-Reviewed Original ResearchGaucher disease type 1Bilateral sequential lung transplantationPulmonary hypertensionLung transplantationGaucher cellsSuccessful bilateral sequential lung transplantationEnd-stage pulmonary hypertensionGroup 1 pulmonary hypertensionPre-transplant comorbiditiesPulmonary parenchymal diseasePulmonary vasodilator therapyPost-transplant courseSevere pulmonary hypertensionAcute renal failurePulmonary arterial hypertensionExtracorporeal membrane oxygenationInterstitial lung diseaseLong-term treatmentPrevious case reportsEnzyme replacement therapyDisease type 1Vasodilator therapyArterial hypertensionLung transplantPrior splenectomy
2011
Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long‐term outcomes of therapy
Lo SM, Liu J, Chen F, Pastores GM, Knowles J, Boxer M, Aleck K, Mistry PK. Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long‐term outcomes of therapy. Journal Of Inherited Metabolic Disease 2011, 34: 643-650. PMID: 21445609, PMCID: PMC3782382, DOI: 10.1007/s10545-011-9313-9.Peer-Reviewed Original ResearchConceptsPulmonary arterial hypertensionEnzyme replacement therapySeverity Score IndexHepatopulmonary syndromeLong-term outcomesGBA1 genotypeAdjuvant therapyPreponderance of femalesImiglucerase enzyme replacement therapyType 1 Gaucher diseaseDiagnosis of GD1Pulmonary vascular complicationsPulmonary vascular diseaseMedian age 12Spleen statusArterial hypertensionVascular complicationsPatient characteristicsConsecutive patientsInitial presentationMedian ageReplacement therapyClinical spectrumVascular diseasePatients