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
2002
Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy
Mistry PK, Sirrs S, Chan A, Pritzker MR, Duffy TP, Grace ME, Meeker DP, Goldman ME. Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy. Molecular Genetics And Metabolism 2002, 77: 91-98. PMID: 12359135, DOI: 10.1016/s1096-7192(02)00122-1.Peer-Reviewed Original ResearchConceptsType 1 Gaucher's diseaseSevere pulmonary hypertensionLife-threatening pulmonary hypertensionRight ventricular systolic pressurePulmonary hypertensionGaucher diseaseAsymptomatic pulmonary hypertensionCharacteristics of patientsHigh-risk patientsVentricular systolic pressureEnzyme gene polymorphismACE I alleleAdditional genetic factorsLung transplantationUntreated patientsTransplant candidatesConsecutive patientsSystolic pressureTertiary referralDoppler echocardiographyReplacement therapyClinical spectrumPoor complianceGD patientsGBA mutationsFailure of resting echocardiography and cardiac catheterization to identify pulmonary hypertension in two patients with type I Gaucher disease
Sirrs S, Irving J, McCauley G, Gin K, Munt B, Pastores G, Mistry P. Failure of resting echocardiography and cardiac catheterization to identify pulmonary hypertension in two patients with type I Gaucher disease. Journal Of Inherited Metabolic Disease 2002, 25: 131-132. PMID: 12118528, DOI: 10.1023/a:1015680827730.Peer-Reviewed Original ResearchConceptsDiagnosis of PHPulmonary hypertensionCardiac catheterizationEvidence of PHNormal pulmonary artery pressureOpen lung biopsyPulmonary artery pressureArtery pressureDobutamine echocardiographyLung biopsyEchocardiographic assessmentReplacement therapyPatient managementPatientsEchocardiographyGaucher diseaseGaucher patientsDiseaseHypertensionCatheterizationType IDiagnosisComplicationsBiopsyTherapy