Department of Pediatrics, Division of Metabolism and Nutrition, Çukurova University Medical Faculty, Adana, Turkey.
Ministry of Health, Mersin City Hospital, Mersin, Turkey.
Metab Brain Dis. 2018 Aug;33(4):1223-1227. doi: 10.1007/s11011-018-0236-0. Epub 2018 Apr 14.
Gaucher disease is the most common lysosomal storage disorder due to glucosylceramidase enzyme deficiency. There are three subtypes of the disease. Neurological involvement accompanies visceral and haematological findings only in type II and type III Gaucher patients. Type II is the acute progressive neuronopathic form which is the most severe and rare subtype. Clinical findings are recognized prenatally or in the first months of life and followed by death within the first two years of age. Among our 81 Gaucher patients, we identified 4 (4,9%) type II patients in our metabolic centre. This rate is significantly higher than the rate reported in the literature (<1%). Three of the patients had novel mutations, one of them was a collodion baby and the other one was mistyped as type III due to its atypical presentation at the beginning and he was treated with ERT for 8 months. In this report, we present our type II Gaucher patients with three novel mutations and one perinatal lethal form with generalized ichthyosis which is a very rare disorder. Additionally, we would like to highlight the phenotypic heterogeneity not only between the subtypes, also even in the same type.
戈谢病是最常见的溶酶体贮积症，由于葡萄糖脑苷脂酶缺乏。该病有三种亚型。只有 II 型和 III 型戈谢病患者才会出现神经病变伴随内脏和血液学表现。II 型是急性进行性神经病变形式，是最严重和罕见的亚型。临床发现可在产前或生命的头几个月识别出来，并在两岁内死亡。在我们的 81 名戈谢病患者中，我们在代谢中心发现了 4 名（4.9%）II 型患者。这一比例明显高于文献报道的比率（<1%）。其中 3 名患者有新的突变，其中一名是胶样婴儿，另一名由于其最初表现不典型而被误诊为 III 型，他接受了 ERT 治疗 8 个月。在本报告中，我们介绍了我们的 3 名具有新突变的 II 型戈谢病患者和 1 名具有全身性鱼鳞病的围产期致死型，这是一种非常罕见的疾病。此外，我们还想强调表型异质性不仅存在于不同亚型之间，甚至在同一亚型中也存在。
