The Clinical and Demographic Characteristics of Nonneuronopathic Gaucher Disease in 887 Children at Diagnosis

Kaplan, Paige; Andersson, Hans; Kacena, Katherine; Yee, John

doi:10.1001/archpedi.160.6.603

Cited by 169 publications

(158 citation statements)

References 18 publications

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“…The skeletal manifestations of GD progress slowly and become apparent in the teenage years (11). Medullary involvement in the femur and vertebra was common in all of our patients.…”

Section: Discussionmentioning

confidence: 69%

Pediatric Gaucher experience in South Marmara region of Turkey

Erdemir¹,

Özkan²,

Özgür³

et al. 2011

Turk J Gastroenterol

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“…The skeletal manifestations of GD progress slowly and become apparent in the teenage years (11). Medullary involvement in the femur and vertebra was common in all of our patients.…”

Section: Discussionmentioning

confidence: 69%

Pediatric Gaucher experience in South Marmara region of Turkey

Erdemir¹,

Özkan²,

Özgür³

et al. 2011

Turk J Gastroenterol

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“…39,48,[59][60][61][62][63][64] In addition to theoretically better long-term safety (recombinant vs tissue extracted), the efficacy of imiglucerase has been comparable to that of alglucerase. Ancillary long-term observations have also been underscored: individual heterogeneity in magnitude of response, plateauing of response of all parameters to ERT (all doses) after 2-5 years, and greater resistance of bones and lungs to ERT.…”

Section: Ert: Imiglucerasementioning

confidence: 99%

How I treat Gaucher disease

Zimran

2011

Blood

145

135

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This review presents a cohesive approach to treating patients with Gaucher disease. The spectrum of the clinical presentation of the disease is broad, yet heretofore there was only one diseasespecific treatment. In the past 2 years, a global shortage of this product has resulted in reassessment of the "one enzyme-one disease-one therapy" mantra. It has also showcased the multiple levels that engage the patient, the treating physician, and the third-party insurer in providing adequate treatment to all symptomatic patients. The key points summarizing the way I manage my patients include accurate enzymatic diagnosis with mutation analysis (for some prognostication and better carrier detection in the family), a detailed follow-up every 6-12 months (with an option to see consultants and attention to comorbidities), and initiation of enzyme replacement therapy according to symptoms or deterioration in clinically significant features or both. I do not treat patients with very mild disease, but I consider presymptomatic therapy for patients at risk, including young women with poor obstetric history. I prefer the minimal-effective dose rather than the maximally tolerated dose, and when the difference between high-dose and lower-dose regimens is (merely statistically significant but) clinically meaningless, minimizing the burden on society by advocating less-expensive treatments is ethically justified. (Blood. 2011;118(6): 1463-1471) IntroductionThe purpose of this review is to present a cohesive approach to treating patients with Gaucher disease (GD). As can be appreciated, the spectrum of the clinical presentation of the disease is broad, yet heretofore there was only one disease-specific treatment. In the past 2 years, a global shortage of this product has resulted in reassessment of the "one enzyme-one disease-one therapy" mantra. It has also showcased the multiple levels that engage the patient, the treating physician, and the third-party insurer, in providing adequate treatment for all symptomatic patients with GD. As a treating physician dedicated to GD even before the era of enzyme replacement therapy (ERT), my mandate and inspiration has always been to provide the best therapy with the least malfeasance. Description of GDGD is one of the most common glycolipid storage disorders, caused by an inherited deficiency of the lysosomal enzyme ␤-glucocerebrosidase, leading to accumulation of the substrate glucocerebroside in the cells of the macrophage-monocyte system. 1 Accordingly, key disease features are related to splenomegaly with hypersplenism, hepatomegaly, and bone involvement. Although a single-gene disorder, phenotypic expression is extremely variable, ranging from totally asymptomatic (only detectable by DNA analysis or enzyme deficiency) to a lethal newborn form with hydrops fetalis and ichthyosis. Many manifestations, some notuncommon and others very rare, cannot be explained by storage per se; examples include immunologic abnormalities, increased prevalence of certain malignancies with relative paucity of ...

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“…Most of the patients with GD1 are symptomatic in childhood (Charrow et al 2004) and often present with hepatosplenomegaly, haematological manifestations (anaemia and thrombocytopenia) or bone disease. Early onset correlates well with severe disease progression (Kaplan et al 2006). GD2 typically presents within 2 years of age with a rapidly progressive course resulting in death by 2-4 years of age.…”

Section: Introductionmentioning

confidence: 99%