Primary Splenomegaly With a Report of Three Cases Occurring in One Family

Brill, N. E.

doi:10.1097/00000441-190104000-00001

Cited by 22 publications

(6 citation statements)

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“…However, the familial occurrence of Gaucher disease was recognized as early as 1901 (4) and the fact that it was a metabolic abnormality was discovered in 1907 (5). The pathologic hallmark of the disease was the presence of macrophages engorged with lipid.…”

Section: Historymentioning

confidence: 99%

Gaucher disease as a paradigm of current issues regarding single gene mutations of humans.

Beutler

1993

Proc. Natl. Acad. Sci. U.S.A.

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Gaucher disease is a glycolytic storage disease caused by a deficiency in activity of the catabolic enzyme glucocerebrosidase. Over 35 different mutations have been documented, including missense and nonsense point mutations, splicing mutations, deletions and insertions, a fusion gene, and examples of gene conversion. Gaucher disease is most common in the Ashkenazi Jewish population, in which just five of the mutations in this population account for 98% of the disease-producing alleles. Each of these mutations is found in the context of a single haplotype, a finding consistent with a single origin of each mutation. Although it is clear that these mutations provide a selective advantage in the Jewish population and thus constitute a balanced polymorphism, the nature of the advantage is unknown. Gaucher disease can be treated symptomatically, by administration of the missing enzyme, by allogeneic bone marrow transplantation, and potentially by gene transfer into hematopoietic stem cells. Increasing understanding of this disease has, as in other genetic disorders, created a host of social and ethical dilemmas regarding matters such as the cost of treatment for rare diseases and the advantages and disadvantages of population-targeted genetic screening.

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Section: Historymentioning

confidence: 99%

Gaucher disease as a paradigm of current issues regarding single gene mutations of humans.

Beutler

1993

Proc. Natl. Acad. Sci. U.S.A.

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“…The eponym, "Gaucher disease" was applied to this condition and the term Gaucher cell became commonly used to describe the characteristic engorged ceils in their organs. In 1901, Brill suggested that Gaucher disease was familial [11], and later he recognized extension of the process beyond the spleen with involvement of the liver, lymph nodes and bone [12]. It was soon realized that Gaucher disease varied greatly in its age of onset, clinical manifestations and severity.…”

Section: Discussionmentioning

confidence: 99%

Radiographic findings in type 3 b Gaucher disease

et al. 1996

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The purpose of this paper is to describe the radiographic findings in type 3 b Gaucher disease, a chronic neuronopathic form of the illness with severe systemic manifestations. Between 1980 and 1985 17 consecutive patients were evaluated with radiography of the chest, long bones and spine, CT of the head and chest, abdominal sonography, and MRI of the head, abdomen and spine. Clinical manifestations were severe, and led to death from hepatic, pulmonary or cardiac failure in nine patients. Type 3 b Gaucher disease shares the same spectrum of radiographic findings observed in type 1 disease, but the systemic manifestations are more severe. Pulmonary infiltrates, thoracic lymph node enlargement, vertebral compression fractures and osteonecrosis of the long bones occur much more frequently in patients with type 3 b disease.

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“…Истинная основа болезни, названной его именем, оставалась неизвестной еще более 80 лет. Почти 20 лет спустя американский патолог Натан Брилл установил наследственный характер БГ, описав несколько случаев заболевания в одной семье [2]. Благодаря исследованиям Брилла был установлен системный характер БГ (описано «поражение» печени, селезенки и костного мозга) и проведена первая прижизненная диагностика заболевания по семейному скринингу.…”

Section: первые шагиunclassified

Gaucher disease: achievements and prospects

Ponomarev¹,

Lukina²

2021

Terapevticheskii arkhiv

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Gaucher disease (GD) is the most common lysosomal storage disorder, resulting from a deficiency in the activity of a lysosomal enzyme glucocerebrosidase, which is involved in the catabolism of sphingolipids. The phenomenal progress in understanding the pathogenesis and development of specific therapy of this disease over the past 60 years dramatically changed the clinical phenotype of GD, turning a severe progressive disorder into an asymptomatic metabolic defect. The evolution of the understanding of GD associated with fundamental discoveries in the field of cell biology, biochemistry and genetics may be of interest to a wide audience as a model of the effective work of the scientific community in the treatment of rare metabolic pathology.

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Primary Splenomegaly With a Report of Three Cases Occurring in One Family

Cited by 22 publications

References 0 publications

Gaucher disease as a paradigm of current issues regarding single gene mutations of humans.

Gaucher disease as a paradigm of current issues regarding single gene mutations of humans.

Radiographic findings in type 3 b Gaucher disease

Gaucher disease: achievements and prospects

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