Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantation.
A patient with severe mucopolysaccharidosis type I (Hurler syndrome) underwent bone marrow transplantation twice (at the ages of 2 and 2.5 years), both times with his HLA-identical heterozygous brother as the donor. Between the ages of 10 and 14 years, despite 92% donor engraftment and 50% normal α-L-iduronidase activity, he developed progressive respiratory failure with severe pulmonary arterial hypertension, upper airway obstruction, and interstitial lung disease. Noninvasive ventilation and weekly laronidase therapy were initiated. Within 24 months, his mean pulmonary artery pressure was within the upper limit of normal and interstitial lung disease and airway obstruction improved markedly. He went from using a wheelchair to having full ambulation, he no longer required daytime ventilation, and his quality-of-life scores (Child Health Assessment Questionnaire) significantly improved.
Valayannopoulos
Vassili
V
Reference Center for Inherited Metabolic Disorders, Necker-Enfants Malades Hospital, 149 Rue de Sèvres, 75015 Paris, France. vassili.valaya@nck.aphp.fr
de Blic
Jacques
J
Mahlaoui
Nizar
N
Stos
Bertrand
B
Jaubert
Francis
F
Bonnet
Damien
D
Fischer
Alain
A
de Lonlay
Pascale
P
D000293:Adolescent; D016026:Bone Marrow Transplantation; D002648:Child; D002675:Child, Preschool; D003131:Combined Modality Therapy; D045422:Continuous Positive Airway Pressure; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D005838:Genotype; D006650:Histocompatibility Testing; D006801:Humans; D006976:Hypertension, Pulmonary / Q000188:drug therapy* / Q000473:pathology; D007068:Iduronidase / Q000627:therapeutic use*; D007223:Infant; D007262:Infusions, Intravenous; D017563:Lung Diseases, Interstitial / Q000188:drug therapy* / Q000473:pathology; D008297:Male; D008059:Mucopolysaccharidosis I / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology / Q000523:psychology; D010102:Oxygen Inhalation Therapy; D010641:Phenotype; D011650:Pulmonary Alveoli / Q000187:drug effects / Q000473:pathology; D011788:Quality of Life / Q000523:psychology; D011994:Recombinant Proteins / Q000627:therapeutic use*; D012131:Respiratory Insufficiency / Q000188:drug therapy* / Q000473:pathology; D020181:Sleep Apnea, Obstructive / Q000188:drug therapy* / Q000473:pathology
D011994:Recombinant Proteins; D007068:Iduronidase