Relationships between Serum Markers of Monocyte/Macrophage Activation in Type 1 Gaucher's Disease

Casal, J.; Lacerda, Lúcia; Pérez, Luis Francisco; Pinto, Rui; Sá-Miranda, Clara; Tutor, J. Carlos

doi:10.1515/cclm.2002.010

Cited by 28 publications

(19 citation statements)

References 27 publications

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“…No statistically significant difference was found between serum chitotriosidase levels from smear-negative and culture-negative cases (accepted as sequel pulmonary tuberculosis for the purposes of this study) and those from healthy controls. It is known that serum chitotriosidase levels are generally under 18 nM/hour/mL in healthy people 8. Duplication during chitotriosidase gene activation is seen in approximately 5% of the general population, which makes it impossible to measure serum levels of the enzyme in patients with tuberculosis 9,10…”

Section: Discussionmentioning

confidence: 99%

Efficacy of serum chitotriosidase activity in early treatment of patients with active tuberculosis and a negative sputum smear

Tasci¹,

Tapan²,

Özkaya³

et al. 2012

TCRM

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BackgroundThe results of sputum culture for Mycobacterium tuberculosis must be awaited in most cases, which delays the start of treatment in patients with sputum smear-negative pulmonary tuberculosis. We investigated whether plasma chitotriosidase activity is a strong marker for early diagnosis of tuberculosis in patients for whom a bacillus smear is negative and tuberculosis culture is positive.MethodsClinical, radiological, and laboratory features were evaluated in 75 patients, 17 of whom were diagnosed as having active tuberculosis by negative acid-fast bacillus smear and positive culture, 38 as having sequel tuberculosis which was radiologically and microbiologically negative, and 20 who served as healthy controls. Serum chitotriosidase activity levels were measured in both cases and controls.ResultsThe mean age of the cases with active pulmonary tuberculosis, cases with sequel lesions, and controls was 23 ± 2.4 years, 22 ± 1.7 years, and 24 ± 2.1 years, respectively. Serum chitotriosidase levels were 68.05 ± 72.61 nmol/hour/mL in smear-negative, culture-positive pulmonary tuberculosis cases (Group A) and 29.73 ± 20.55 nmol/hour/mL in smear-negative, culture-negative sequel pulmonary tuberculosis cases (Group B). Serum chitotriosidase levels from patients in Group A were significantly higher than in Group B and Group C. There was no statistically significant difference in serum chitotriosidase levels between cases with sequel pulmonary tuberculosis (Group B, smear-negative, culture-negative) and healthy controls (Group C).ConclusionIn patients with active tuberculosis and a negative sputum smear for acid-fast bacillus, plasma chitotriosidase activity seems to be a strong marker for diagnosis of active disease which can be used while awaiting culture results.

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Section: Discussionmentioning

confidence: 99%

Efficacy of serum chitotriosidase activity in early treatment of patients with active tuberculosis and a negative sputum smear

Tasci¹,

Tapan²,

Özkaya³

et al. 2012

TCRM

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“…It should be mentioned that the serum markers for GD (Cox 2005;Deegan et al 2005) are considered to be produced and secreted by GCs (Hollak et al 1994), with the exception of the hex B marker, which has been suggested to come from hepatocytes (Casal et al 2002) altered by GlcCerase deficiency. It is worth noting that a massive systemic inflammation syndrome was induced in adult mice carrying the GD L444P mutation, which at the same time showed only minimal storage of GlcCer.…”

Section: Glucosylceramide Transfermentioning

confidence: 99%

Glucosylceramide transfer from lysosomes—the missing link in molecular pathology of glucosylceramidase deficiency: A hypothesis based on existing data

Elleder

2006

J of Inher Metab Disea

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SummaryGaucher disease (GD), deficiency of acid glucosylceramidase (GlcCer‐ase) is characterized by deficient degradation of beta‐glucosylceramide (GlcCer). It is well known that, in GD, the lysosomal accumulation of uncleaved GlcCer is limited to macrophages, which are gradually converted to storage cells with well known cytology—Gaucher cells (GCs). On the basis of previous studies of the disorder and of a comparison with other lysosomal enzymopathies affecting degradation of the GlcCer‐based glycosphingolipid series, it is hypothesized that in other cell types (i.e. non‐macrophage cells) the uncleaved GlcCer, in GlcCer‐ase deficiency, is transferred to other cell compartments, where it may be processed and even accumulated to various degrees. The consequence of the abnormal extralysosomal load may differ according to the cell type and compartment targeted and may be influenced by genetically determined factors, by a number of acquired conditions, including the current metabolic situation. The sequelae of the uncleaved GlcCer extralysosomal transfer may range from probably innocent or positive stimulatory, to the much more serious, in which it interferes with a variety of cell functions, and in extreme cases, can lead to cell death. This alternative processing of uncleaved GlcCer may help to explain tissue alterations seen in GD that have, so far, resisted explanation based simply on the presence of GCs. Paralysosomal alternative processing may thus go a long way towards filling a long‐standing gap in the understanding of the molecular pathology of the disorder. The impact of this alternative process will most likely be inversely proportional to the level of residual GlcCer‐ase activity. Lysosomal sequestration of GlcCer in these cells is either absent or in those exceptional cases where it does occur, it is exceptional and rudimentary. It is suggested that paralysosomal alternative processing of uncleaved GlcCer is the main target for enzyme replacement therapy. The mechanism responsible for GlcCer transfer remains to be elucidated. It may also help in explaining the so far unclear origin of glucosylsphingosine (GlcSph) and define the mutual relation between these two processes.

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“…Active synthesis of ACE in Gaucher cells may be responsible for the elevated enzyme levels in the serum and spleen of patients with Gaucher disease, while high levels of lysozyme may reflect an increased body mass of reticuloendothelial cells. In 16 patients with Gaucher disease not receiving enzyme therapy, increases in serum levels in decreasing order were observed for chitotriosidase, neopterin, ACE, adenosine deaminase and beta-hexosaminidase [10]. However, chitotriosidase and TRAP seem to be the only markers that do not overlap between patients and controls [30].…”

Section: Biochemical Markersmentioning

confidence: 99%

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring

Baldellou

Andria

Campbell

et al. 2004

European Journal of Pediatrics

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Relationships between Serum Markers of Monocyte/Macrophage Activation in Type 1 Gaucher's Disease

Cited by 28 publications

References 27 publications

Efficacy of serum chitotriosidase activity in early treatment of patients with active tuberculosis and a negative sputum smear

Efficacy of serum chitotriosidase activity in early treatment of patients with active tuberculosis and a negative sputum smear

Glucosylceramide transfer from lysosomes—the missing link in molecular pathology of glucosylceramidase deficiency: A hypothesis based on existing data

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring

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