Vellas Dylan, Gramont Baptiste, Grange Rémi, Cathébras Pascal
Department of Internal Medicine, University Hospital, Saint-Etienne, France.
Department of Radiology, University Hospital, Saint-Etienne, France.
Eur J Case Rep Intern Med. 2021 Sep 8;8(9):002802. doi: 10.12890/2021_002802. eCollection 2021.
Type 1 Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucocerebrosidase, leading to accumulation of its substrate (glucosylceramide) in macrophages of the reticuloendothelial system, which are then referred to as Gaucher cells. The most frequent symptoms are asthenia, spleen and liver enlargement, bone abnormalities and cytopenia due to bone marrow infiltration. Lung involvement in GD is a rare finding, and it is unclear whether it may regress under enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). Here we report a case of type 1 GD recently diagnosed in an elderly patient complicated by infiltrative lung disease, which responded to ERT.
Type 1 Gaucher disease (GD) is the most common type of GD diagnosed in adulthood, and is characterized by great clinical heterogeneity.Pulmonary involvement is rare, mostly characterized by infiltrative lung disease and pulmonary hypertension, and typically unresponsive to enzyme replacement therapy (ERT).Type 1 GD should be included in the differential diagnosis of infiltrative lung disease of unclear origin in patients with cytopenia and/or splenomegaly.Infiltrative lung disease due to type 1 GD may respond to ERT even in elderly patients.
1型戈谢病（GD）是一种罕见的常染色体隐性溶酶体贮积病，由β-葡萄糖脑苷脂酶活性缺乏引起，导致其底物（葡糖脑苷脂）在网状内皮系统的巨噬细胞中蓄积，这些巨噬细胞随后被称为戈谢细胞。最常见的症状是乏力、脾肿大和肝肿大、骨骼异常以及因骨髓浸润导致的血细胞减少。GD累及肺部较为罕见，目前尚不清楚在酶替代疗法（ERT）或底物减少疗法（SRT）下肺部病变是否会消退。在此，我们报告一例近期诊断出的1型GD老年患者，其合并浸润性肺疾病，对ERT有反应。
1型戈谢病（GD）是成年期诊断出的最常见的GD类型，具有高度的临床异质性。肺部受累罕见，主要表现为浸润性肺疾病和肺动脉高压，通常对酶替代疗法（ERT）无反应。1型GD应纳入血细胞减少和/或脾肿大患者不明原因浸润性肺疾病的鉴别诊断中。即使是老年患者，1型GD所致的浸润性肺疾病也可能对ERT有反应。
