Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease in
a 46-Year-Old Man with a Rare GBA Mutation: A Case Report

Erdal, İzzet; Yıldız, Yılmaz; Önal, Gizem; Aktepe, Oktay Halit; Düzgün, Selin Ardalı; Saglam, Arzu; Dökmeci, Serap; Sivri, Hatice Serap

doi:10.2174/1871530322666220420134935

Cited by 3 publications

(2 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Genetic analysis can be used to confirm the diagnosis of GD, to help analyze the relationship between clinical phenotype and genotype, to evaluate the prognosis of the disease, and to aid in genetic counseling and prenatal diagnosis. Early diagnosis of GD can be achieved by combining clinical manifestations, laboratory testing, and genetic analyses ( 12 , 13 ).…”

Section: Discussionmentioning

confidence: 99%

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene

et al. 2023

View full text Add to dashboard Cite

Gaucher disease (GD, ORPHA355) is a rare autosomal recessive genetic disease caused by mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase (GCase). Here, we report a patient with GD who carried the heterozygous c.1240G > C (p.Val414Leu) mutation and the heterozygous pathogenic c.1342G > C (p.Asp448His) mutation in GBA1. Bioinformatics analysis suggested that the two mutations are pathogenic. Functional studies showed that GBA1 mRNA and GCase protein levels of mutant types were significantly less than the wild-type. In the cell lysates, the two mutations of GBA1 c.1240G > C and c.1342G > C caused a decreased GCase concentration, while the two mutations did not change the distribution in the cell. The pathogenicity of the compound heterozygous mutations was verified. Early diagnosis and treatment can improve the quality of life and prevent unnecessary procedures in patients with GD.

show abstract

Section: Discussionmentioning

confidence: 99%

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene

et al. 2023

View full text Add to dashboard Cite

show abstract

“…Literature search results are summarized and presented in Table I [11][12][13][14][15][16][17][18][19][20]. Besides single cases that were reported, only 4 articles included more patients that were monitored and only 3 articles reported more than one Gaucheroma.…”

Section: Systematic Reviewmentioning

confidence: 99%

Hepatic, Splenic, and Bone Marrow Gaucheromas: A Case Series and Systematic Literature Review

Chiș

Ismaiel

Chis

2023

JGLD

View full text Add to dashboard Cite

Background and Aims: Gaucher disease (GD) is one of the most common lysosomal storage diseases. It is characterized by the accumulation of glucocerebroside lipids in the macrophages, with liver, spleen and bone marrow frequently affected. The affected organs can develop tumor-like lesions (Gaucheromas), which are difficult to diagnose. We present the Gaucheromas and their ultrasonographic characteristics. Methods: We selected Gaucheromas and their ultrasonographic characteristics found in the last 5 years during the periodical evaluation of 74 adult GD patients in Romania. All the patients had magnetic resonance imaging examination for comparison. A systematic review of all the Gaucheroma-related articles was performed to compare our results with the literature. Results: Gaucheromas were found in 7 adult patients: 4 in the spleen, 2 in the liver and one affecting the bone. No malignancy ultrasound characteristics were found and neither on MRI exams. In the literature, 10 articles reported Gaucheromas, most of them in the liver and spleen in type 1 GD patients. All our patients were also type 1 GD, and the ultrasound aspect did not change during the 5 years follow-up. Conclusions: Gaucheromas can be found in any patient with GD. Malignancies have to be considered unless proven otherwise. Imaging characterization (ultrasound and MRI) are useful as histopathologic examination is difficult to obtain in all cases.

show abstract

Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan

Narita,

Koto,

Noto

et al. 2024

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background Patients with Gaucher disease (GD), a rare lysosomal storage disorder, have reduced health-related quality of life (HRQOL). A patient-reported outcome measure (PROM) for HRQOL developed for type 1 GD (GD1) is not appropriate for patients with neuronopathic GD (nGD) types 2 (GD2) and 3 (GD3). In this study, we developed a new PROM for use in all GD types. We previously reported the qualitative analysis of interviews with Japanese patients with nGD, which was used to create nGD-specific PROM items. Here we evaluated the full PROM combining the type 1 questionnaire with the new nGD-specific items. Methods Patients with confirmed GD were recruited (Association of Gaucher Disease Patients in Japan or leading doctors) for pre-testing (May 2021) or the main survey (October–December 2021). The PROM had three parts: Parts 1 and 2 were translated into Japanese from the pre-existing GD1 PROM, whereas Part 3 was newly developed. Patients (or their caregivers, where necessary) completed the PROM questionnaire on paper and returned it by mail. Mean scores were determined overall and by GD type. Inter-item correlations, content consistency (Cronbach’s alpha), and test–retest reliability (Cohen’s kappa; main survey only, taken 2 weeks apart) were calculated. Results Sixteen patients (three with GD1; six with GD2; seven with GD3) and 33 patients (nine with GD1; 13 with GD2; 11 with GD3) participated in the pre-test and main survey, respectively. All GD2 patients and one-third (6/18) of GD3 patients required caregivers to complete the questionnaire. Mean scores indicated that the burden was highest in GD2 and lowest in GD1. In the main survey, internal consistency was high (Cronbach’s alpha = 0.898 overall, 0.916 for Part 3), and test–retest reliability was high for Part 3 (kappa > 0.60 for 13/16 items) but low for Part 1 (kappa < 0.60 for 12/15 items). Conclusions We have developed a flexible and reliable PROM that can be tailored for use in all types of GD and propose using Parts 1 and 2 for GD1, Parts 2 and 3 for GD2, and Parts 1, 2, and 3 for GD3.

show abstract

Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease in a 46-Year-Old Man with a Rare GBA Mutation: A Case Report

Cited by 3 publications

References 21 publications

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene

Hepatic, Splenic, and Bone Marrow Gaucheromas: A Case Series and Systematic Literature Review

Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan

Contact Info

Product

Resources

About