Abstract
RESUMO A doença de Gaucher (DG) é a doença de depósito lisossômico mais prevalente, que se caracteriza pelo acúmulo de glicosilceramida e glucosilesfingosina em todos os tecidos do corpo. Com o advento da terapia de reposição de enzimas, o prognóstico dos pacientes com DG melhorou acentuadamente. Ainda assim, as manifestações esqueléticas associadas à DG respondem lentamente à terapia de reposição de enzimas e são as que contribuem de forma mais significativa para a morbidade do paciente. Esta revisão das manifestações ósseas da DG apresenta as mais recentes teorias sobre a sua fisiopatologia e uma revisão sistemática de estudos com pacientes latino-americanos que relataram a frequência das manifestações ósseas e os efeitos da terapia de reposição de enzimas sobre seu tratamento. Concluímos, destacando a importância da identificação precoce e do manejo adequado das doses apropriadas da terapia de reposição de enzimas para reduzir a morbidade causada pela DG.
Highlights
Gaucher disease (GD) is an autosomal recessive disorder that affects around one in 850 individuals of Ashkenazi Jewish ancestry, and one in 40,000 individuals in non-Jewish populations
The objectives of this review are four-fold: to (1) offer a brief overview of the pathophysiology of Gaucher-related bone disease; (2) to review the current diagnostic and imaging practices for clinical orthopedics; (3) to report the frequency of bone manifestations and present any studies that evaluate the effects of enzyme replacement therapy (ERT) on their progression, based on published studies in GD is type 1 (GD1) Latin American cohorts; and (4) to present the current frequency of bone manifestations reported in a Latin American cohort of the International Collaborative Gaucher Group (ICGG) Gaucher Registry
We found a total of 9 published articles reporting prevalence of bone manifestations in Latin American GD1 patients at baseline.[28,29,30,31,32,33,34,35,36]
Summary
Gaucher disease (GD) is an autosomal recessive disorder that affects around one in 850 individuals of Ashkenazi Jewish ancestry, and one in 40,000 individuals in non-Jewish populations. GD is caused by a rare inherited deficiency of the acid β-glucosidase enzyme, resulting in a continuum of phenotypes ranging from asymptomatic to severe childhood-onset.[1,2] Broadly speaking, GD is classified into 3 different subtypes based on age of onset, clinical symptoms, and the presence and rate of progression of neurological symptoms. The most common form of GD is type 1 (GD1)[3] representing 95% of patients with the disease. In type I, primary neurological disease is absent, differentiating it from types 2 and 3, which have varying degrees of central nervous system (CNS) involvement. Classical signs of GD1 disease generally include hepatosplenomegaly, thrombocytopenia, anemia and skeletal disease.[3]
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