A patient with type 2 Gaucher's disease with respiratory disease

Shebani, Eyman; Johannesson, Marie; Strömberg, Bo; Roomans, Godfried M.

doi:10.1067/mpd.2003.50

Cited by 4 publications

(3 citation statements)

References 7 publications

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“…GlcCer lysosomal storage in other cell types has not been described with the exception of rudimentary findings in neurons in GD type II (see above). Discrete lysosomal membranous inclusions (differing from GlcCer tubules) in the respiratory epithelium were described recently in GD II (Shebani et al 2003) and these observations have been personally confirmed (unpublished data). There was a single observation on the excess of ceroid in spleen sinus endothelium and in smooth-muscle cells generally (Yamadori et al 1990).…”

Section: Intralysosomal Retention Of Uncleaved Glucosylceramidementioning

confidence: 50%

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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Section: Intralysosomal Retention Of Uncleaved Glucosylceramidementioning

confidence: 50%

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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“…Type‐II Gaucher disease also called the acute neuronopathic type, is almost always present by 6 months of age or earlier. It has been divided into two subtypes: a perinatal form in which the newborn has icthyosis, and an infantile form, in which the infant is apparently normal at birth and develops hepatosplenomegaly and progressive neurological symptoms within 6 months (3). Pulmonary involvement is not uncommon in the infantile form but is considered distinctly rare in the adult type (1, 4, 5).…”

Section: Discussionmentioning

confidence: 99%

Bilateral lung transplant in Gauchers type‐1 disease

Rao

Parakininkas

Hintermeyer

et al. 2005

Pediatric Transplantation

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“…Some reports have included gastroesophageal reflux disease (GERD) as one of the medical complications associated with GD . GERD refers to persistent reflux due to pathological factors that result in significant symptoms.…”

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confidence: 99%

Surgery for gastroesophageal reflux disease with Gaucher disease type 2

Kubo

Shimono

Tanaka

et al. 2016

Pediatrics International

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Gaucher disease, the most common lysosomal storage disease, is sometimes complicated with gastroesophageal reflux disease (GERD). The present patient was a 136-day-old Japanese boy with Gaucher disease type 2. Enzyme replacement therapy and chemical chaperone therapy were successful for the skin disorders, joint contractures, hepatosplenomegaly and thrombocytopenia, but he also had GERD. Accordingly, a Nissen fundoplication with gastrostomy was performed. There was no vulnerability of organs, easy bleeding or difficulty of maintaining the visual field because of hepatosplenomegaly during operation. In the perioperative period, there was no prolonged wound healing or infection. GERD was improved. In the near future, the number of long-term survivors of Gaucher disease will increase due to improvements in medical therapy. Therefore, it is expected that the number of patients requiring fundoplication will also increase. In patients with successful medical therapy, surgical fundoplication can be safely and effectively performed.

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A patient with type 2 Gaucher's disease with respiratory disease

Cited by 4 publications

References 7 publications

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

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

Bilateral lung transplant in Gauchers type‐1 disease

Surgery for gastroesophageal reflux disease with Gaucher disease type 2

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