Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review

Doneda, Divair; Netto, Cristina Brinckmann Oliveira; Moulin, Cileide Cunha; Schwartz, Ida Vanessa Döederlein

doi:10.1186/1743-7075-10-34

Cited by 22 publications

(15 citation statements)

References 28 publications

(54 reference statements)

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“…The clinical variability found in patients with GD is related to the type of mutation in the GBA gene and to the proteins, substrates and metabolism of each individual, as well as environmental factors; yet, many of these factors are not completely known. [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

Gaucher’s disease: report of 11 cases with review of literature

Essabar¹,

Meskini²,

Lamalmi³

et al. 2015

Pan Afr Med J

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Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it's one of the rare genetic diseases for which therapy is now available. The purpose of this work is to study the epidemiological features of the disease and to highlight the diagnostic difficulties. We performed an 11-year retrospective study of 11 patients with GD followed-up in the department of paediatric hepatology gastroenterology and nutrition of Rabat children's Hospital. We observed 11 patients with GD: 6 males and 5 females. Age at onset ranged from 3 months to 10 years with an average of 3.41 years. Mean age at diagnosis was 4 years (range 3months-14years). Parental consanguinity was noted in 85% cases. According to the clinical presentation, we classified our patients into: 9 cases of type 1 (81%) and two cases of type 2 (19%), none of the patients presented GD type 3. GD type 1: The age at diagnosis ranged from 2 years to 14 year with an average of 6 years. Main symptoms were: splenomegaly, hepatomegaly, pallor, haemorrhagic appearance (40%), bone pain (40%). The diagnosis was based on histology showing the Gaucher's cells in various tissues (100%). Enzymatic activity dosage confirmed the diagnosis of GD for 4 patients (44.5%). The treatment was always symptomatic (analgesics, transfusion). A splenectomy was performed in one case presenting with multiple splenic abscesses and high transfusion requirements. None of the patients received a specific treatment (substitutive enzymotherapy). The follow-up period ranged from 3 months to 6 years with an average follow-up of 4 years. We noticed stability in 4 cases, 2 worsening cases with bone and spleen complications. Three patients were lost to follow-up. GD type 2: we observed two cases of GD type 2 diagnosed at 3 and 18 months. The visceral symptoms were serious and the neurological features included seizures, hypertony, squint, physical developmental milestones delay. Both of them died. Gaucher's disease is not exceptional in Morocco. Type 1 is the most common type. We noted through this study some diagnostic difficulties as the diagnosis was delayed and the enzymatic dosage was performed in only 42% of the cases as well as therapeutic difficulty with no prescription of the specific treatment given the high cost of the enzyme.

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Section: Discussionmentioning

confidence: 99%

Gaucher’s disease: report of 11 cases with review of literature

Essabar¹,

Meskini²,

Lamalmi³

et al. 2015

Pan Afr Med J

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“…63 Growth deceleration occurs between 3 and 5 years of age and height increase diminishes in later childhood; however at the end of the growth period the difference between the final and the target height were not significant. 13 Therefore, numerous studies have investigated the impact of imiglucerase on growth retardation. 64 In 2008, Andersson et al determined the effects of long-term ERT with alglucerase or imiglucerase on linear growth.…”

Section: Clinical Trials and Data From The Icgg Gaucher Registrymentioning

confidence: 99%

Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy

Serratrice¹,

Carballo²,

Serratrice³

et al. 2016

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IntroductionGaucher disease is the first lysosomal disease to benefit from enzyme replacement therapy, thus serving as model for numerous other lysosomal diseases. Alglucerase was the first glucocerebrosidase purified from placental extracts, and this was then replaced by imiglucerase – a Chinese hamster ovary cell-derived glucocerebrosidase.AimThe aim was to review the evidence underlying the use of imiglucerase in Gaucher disease type 1Evidence reviewData from clinical trials and Gaucher Registries were analyzed.ConclusionImiglucerase has been prescribed and found to have an excellent efficacy and safety profile. We report herein the evidence-based data published for 26 years justifying the use of imiglucerase.

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“…However, in our series, patients experienced BMR increases of up to 70%, which suggests that pulmonary involvement may be a contributing factor to these abnormalities in energy metabolism rather than their sole cause. Studies have shown that patients with GD type I also exhibit a hypermetabolic state, the causes of which remain unclear (Barton et al 1989;Corssmit et al 1995;Doneda et al 2011Doneda et al , 2013. The two patients in our series with pulmonary involvement and a more severe phenotype also had comparatively marked hypermetabolism.…”

Section: Discussionmentioning

confidence: 55%

Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III

et al. 2013

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Gaucher disease type III (GD III) is a rare form of GD characterized by neurological involvement and severe systemic disease. The objective of this study was to assess the nutritional status and energy metabolism of patients with GD III. Methods: The basal metabolic rate (BMR, measured by indirect calorimetry) and anthropometric parameters (height, weight, body mass index (BMI), and arm circumference) of three patients with GD III (p.L444P/L444P genotype) were assessed at different time points. The clinical severity of GD was assessed by means of physical examination, laboratory tests, imaging findings, and the severity scores proposed by Zimran (SSI) and Davies (SSNI). Results: The measured BMR of patients 1 (age 14 years, not on enzyme replacement therapy (ERT), SSI score 33, SSNI score 14.5), 2 (age 17 years, on ERT, SSI score 33, SSNI score 16), and 3 (age 20 years, on ERT, SSI score 33, SSNI score 7.5) was, respectively, 47%, 72%, and 15% higher than that estimated by the Harris-Benedict equation. Patients with a more severe phenotype had more marked hypermetabolism. Patients 1 and 2 had BMI-for-age z scores of À1.09 and À1.39, respectively, and height-for-age z scores of À4.27 and À3.02, respectively; patient 3 had a BMI of 24.7 kg/m 2 . Conclusion: All three patients showed hypermetabolism; however, the two patients with the highest BMR had more severe GD and were malnourished. Additional studies are warranted to assess whether hypermetabolism may be a biomarker of disease severity in GD.Abbreviations BMR Basal metabolic rate ERT Enzyme replacement therapy GD Gaucher disease

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Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review

Cited by 22 publications

References 28 publications

Gaucher’s disease: report of 11 cases with review of literature

Gaucher’s disease: report of 11 cases with review of literature

Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy

Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III

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