Liver involvement in patients with Gaucher disease types I and III.,Molecular Genetics and Metabolism Reports

当前位置： X-MOL 学术 › Mol. Genet. Metab. Rep. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Liver involvement in patients with Gaucher disease types I and III.
Molecular Genetics and Metabolism Reports ( IF 1.9 ) Pub Date : 2020-01-07 , DOI: 10.1016/j.ymgmr.2019.100564
Rodrigo Tzovenos Starosta _{1,

2} , Filippo Pinto E Vairo _{3,

4} , Alícia Dorneles Dornelles ₅ , Suélen Porto Basgalupp ₆ , Marina Siebert _{7,

8} , Maria Lúcia Alves Pedroso _{9,

10} , Carlos Thadeu Schmidt Cerski _{2,

8,

11} , Mário Reis Álvares-da-Silva _{2,

8,

12} , Ida Vanessa Doederlein Schwartz _{1,

5,

6,

13}

Affiliation

Graduate Programme in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
School of Medicine, UFRGS, Porto Alegre, Brazil.
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Graduate Programme in Medical Sciences, UFRGS, Porto Alegre, RS, Brazil.
BRAIN Laboratory, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.
Unit of Laboratorial Research, Experimental Research Centre, HCPA, Porto Alegre, RS, Brazil.
Graduate Programme in Gastroenterology and Hepatology, UFRGS, Porto Alegre, Brazil.
Graduate Programme in Internal Medicine, Universidade Federal do Paraná (UFPR), Curitiba, Paraná, Brazil.
Gastroenterology Service, Complexo Hospital de Clínicas de Curitiba, UFPR, Curitiba, Paraná, Brazil.
Surgical Pathology Service, HCPA, Porto Alegre, RS, Brazil.
Gastroenterology Service, HCPA, Porto Alegre, RS, Brazil.
Clinical Research Center, HCPA, Porto Alegre, RS, Brazil.

Background & aims

Gaucher disease (GD) is a multisystemic disease. Liver involvement in GD is not well characterised and ranges from hepatomegaly to cirrhosis and hepatocellular carcinoma. We aim to describe, and assess the effect of treatment, on the hepatic phenotype of a cohort of patients with GD types I and II.

Methods

Retrospective study based on the review of the medical files of the Gaucher Reference Centre of the Hospital de Clínicas de Porto Alegre, Brazil. Data from all GD types I and III patients seen at the centre since 2003 were analysed. Variables were compared as pre- (“baseline”) and post-treatment (“follow-up”).

Results

Forty-two patients (types I: 39, III: 3; female: 22; median age: 35 y; enzyme replacement therapy: 37; substrate reduction therapy: 2; non-treated: 3; median time on treatment-MTT: 124 months) were included. Liver enzyme abnormalities, hepatomegaly, and steatosis at baseline were seen in 19/28 (68%), 28/42 (67%), and 3/38 patients (8%), respectively; at follow-up, 21/38 (55%), 15/38 (39%) and 15/38 (39%). MRI iron quantification showed overload in 7/8 patients (treated: 7; MTT: 55 months), being severe in 2/7 (treated: 2/2; MTT: 44.5 months). Eight patients had liver biopsy (treated: 6; MTT: 58 months), with fibrosis in 3 (treated: 1; time on treatment: 108 months) and steatohepatitis in 2 (treated: 2; time on treatment: 69 and 185 months). One patient developed hepatocellular carcinoma.

Conclusions

GD is a heterogeneous disease that causes different patterns of liver damage even during treatment. Although treatment improves the hepatocellular damage, it is associated with an increased rate of steatosis. This study highlights the importance of a follow-up of liver integrity in these patients.

中文翻译：

戈谢病 I 型和 III 型患者的肝脏受累。

背景与目标

戈谢病（GD）是一种多系统疾病。GD 中的肝脏受累特征不明确，范围从肝肿大到肝硬化和肝细胞癌。我们旨在描述和评估治疗对 I 型和 II 型 GD 患者肝脏表型的影响。

方法

基于对巴西阿雷格里港临床医院 Gaucher 参考中心医疗档案的回顾性研究。分析了自 2003 年以来在该中心就诊的所有 GD I 型和 III 型患者的数据。变量在治疗前（“基线”）和治疗后（“随访”）进行比较。

结果

42 名患者（I 型：39，III：3；女性：22；中位年龄：35 岁；酶替代疗法：37；底物减少疗法：2；未治疗：3；中位治疗时间-MTT：124个月）被包括在内。基线时肝酶异常、肝肿大和脂肪变性分别见于 19/28 (68%)、28/42 (67%) 和 3/38 (8%) 的患者；随访时，21/38 (55%)、15/38 (39%) 和 15/38 (39%)。MRI 铁定量显示 7/8 患者（治疗：7；MTT：55 个月）超负荷，2/7 患者严重（治疗：2/2；MTT：44.5 个月）。8 名患者进行了肝活检（治疗：6；MTT：58 个月），3 例肝纤维化（治疗：1；治疗时间：108 个月）和 2 例脂肪性肝炎（治疗：2；治疗时间：69 和 185 个月） . 一名患者发展为肝细胞癌。