Chaabouni M, Aoulou H, Tebib N, Hachicha M, Ben Becher S, Monastiri K, Yacoub M, Sfar T, Elloumi M, Chakroun N, Miled M, Ben Dridi M F
Service de pédiatrie, hôpital Hedi-Chaker, Sfax, Tunisie.
Rev Med Interne. 2004 Feb;25(2):104-10. doi: 10.1016/s0248-8663(03)00267-4.
Gaucher's disease is one of the rare lysosomial disease that could receive substitutive enzymatic treatment which may improve considerably the prognosis of certain forms. The purpose of this work is to study the epidemiology of the disease in Tunisia, to highlight the diagnostic and therapeutic difficulties and also to precise our subsequent needs for substitutive medication.
We have conducted a retrospective survey of the hospital wards that were susceptible to take care of patients having Gaucher's disease. These wards are the paediatric, neonatology, internal medicine, haematology, neurology and cardiology wards.
In this study we have observed 27 cases of Gaucher's disease over a period of 18 years (1983-2001). The age at onset ranges from birth to 73 years of age, with an average age of 14.5 years. According to the age at onset and the clinical presentation, we classify our patients into: 20 cases of type 1 (74%), three cases of type 2 (12%), and three cases of type 3 (12%), and one case of unspecified type.Gaucher's disease type 1: The age at onset ranged from 10 months to 73 years with an average of 19 years. The main clinical signs that we have observed were splenomegaly, hepatomegaly, pallor, haemorrhagic appearance and also osteoporosis and bone pain observed in 40% of the cases. The diagnosis was based on histology showing the Gaucher's cells in various tissues while the diagnosis obtained by the dosage of glucocerebrosidase took place only in 50% of the cases. The treatment has always been symptomatic (analgesics, transfusion). A splenectomy was performed in 47% of the cases and none of the patients received a specific treatment. The follow-up period ranged from 1 month to 18 years with an average follow-up of 4 years. Among the 12 patients having a follow-up of at least 1 year, we have noticed an improvement after splenectomy in three cases, a stability in three cases and two worsening cases dealing mainly with bone problems. One patient aged 73 died from respiratory problem and three were lost to follow-up. Gaucher's disease type 2: We have observed three cases of Gaucher's disease type 2 diagnosed at 1 day, 45 days and 3 months of age. The visceral manifestations were serious and the neurological features included seizures, hypertony, ocular-nerve palsies and psychometric decline. The three patients died. Gaucher's disease type 3: Three patients were probably suffering from Gaucher's disease type 3 with visceral manifestations observed at the ages of 9 months, 1 year and 3 years, and also neurological signs observed at respective ages of 2.5 and 3 years. Two patients died and the remaining one was lost to follow-up.
Gaucher's disease is not exceptional in Tunisia. Type 1 is by far the most common one. We have noticed some insufficiency in the diagnosis as the glucocerebrosidase enzymatic dosage was performed only in 50% of the cases as well as therapeutic insufficiency with no prescription of the specific treatment.
戈谢病是一种罕见的溶酶体病，可接受替代酶治疗，这可能会显著改善某些类型的预后。本研究的目的是研究突尼斯该病的流行病学，突出诊断和治疗困难，并明确我们后续对替代药物的需求。
我们对可能收治戈谢病患者的医院病房进行了回顾性调查。这些病房包括儿科、新生儿科、内科、血液科、神经科和心脏科病房。
在本研究中，我们在18年（1983 - 2001年）期间观察到27例戈谢病病例。发病年龄从出生到73岁不等，平均年龄为14.5岁。根据发病年龄和临床表现，我们将患者分为：1型20例（74%），2型3例（12%），3型3例（12%），以及1例未明确类型。戈谢病1型：发病年龄从10个月到73岁不等，平均为19岁。我们观察到的主要临床体征为脾肿大、肝肿大、面色苍白、出血表现，40%的病例还出现骨质疏松和骨痛。诊断基于组织学显示各组织中的戈谢细胞，而通过葡萄糖脑苷脂酶定量获得的诊断仅在50%的病例中进行。治疗一直是对症治疗（镇痛药、输血）。47%的病例进行了脾切除术，没有患者接受特异性治疗。随访期从1个月到18年不等，平均随访4年。在12例至少随访1年的患者中，我们注意到脾切除术后3例病情改善，3例病情稳定，2例病情恶化，主要是骨问题。1例73岁患者死于呼吸问题，3例失访。戈谢病2型：我们观察到3例戈谢病2型病例，分别在1天、45天和3个月龄时确诊。内脏表现严重，神经学特征包括癫痫发作、肌张力亢进、动眼神经麻痹和心理测量下降。这3例患者均死亡。戈谢病3型：3例患者可能患有戈谢病3型，分别在9个月、1岁和3岁时出现内脏表现，在2.5岁和3岁时分别出现神经学体征。2例患者死亡，其余1例失访。
戈谢病在突尼斯并不罕见。1型是迄今为止最常见的类型。我们注意到诊断方面存在一些不足，因为仅在50%的病例中进行了葡萄糖脑苷脂酶酶定量，治疗方面也存在不足，没有开具特异性治疗药物。
