法布里病83例临床病理特点分析

Fabry disease: baseline clinical and pathological characteristics in a cohort of 83 Chinese cases

目的了解法布里病（Fabry病）的临床病理特点。方法回顾性分析上海交通大学医学院附属瑞金医院2002年至2013年6月诊断收集的来自62个Fabry病家系83例Fabry病患者的临床、实验室及肾脏病理资料。结果83例患者中，男59例，女24例；平均年龄（33．1±12．9）岁，其中男（30．1±10．7）岁，女（40．6±14．9）岁。出现首发症状年龄为（18．1±14．5）岁，男性（16．1±13．6岁）早于女性（23．1±15．7岁），出现症状至诊断间隔时间分别为1～50年不等，平均（14．8±10．4）年。肢端疼痛为最常见的首发症状，其次为少汗、肾脏损害，经典型均以肢端疼痛和少汗为首发症状，迟发型首发症状多样。最常见临床症状为眼科病变，达79．5％，此后依次为肾脏损害74．7％、肢端疼痛67．5％、心脏损害56．3％、少汗51．8％、脑血管异常44．1％、听力下降40．6％，皮肤血管角质瘤36．1％、高血压34．9％、消化道症状22．9％。男性、经典型的临床表现分别较女性、迟发型重。40％的肾组织标本可见IgA沉积，易与原发性IgA肾病混淆。结论Fabry病发病早，临床表现多样，累及全身多个器官，不同性别临床表现存在很大差异，仍存在漏误诊现象。肾脏病理检查具有重要的诊断意义，需保证电镜组织，以减少漏误诊。

Objective To investigate the clinical and pathological features of Fabry disease in Chinese patients. Methods Baseline data from a cohort of 83 Fabry patients who belong to 62 families were retrospectively analyzed in terms of demog- raphy, clinical manifestations and renal pathological findings. Results The 83 patients included 59 males and 24 females. The mean age was （33.1 ± 12. 9） years old with male （30. 1 ± 10. 7） years and female （40. 6± 14. 9） years. The mean age at onset was 18. 1 ± 14. 5. Males experienced an earlier age at onset than females （[ 16. 1 ± 13.6 ] years vs [ 23. 1± 15.71 years）. Time between symptom onset and diagnosis ranged from 1 to 50 years. The most common symptom at onset was acro- paresthesias, followed by hypohidrosis and renal abnormalities. The symptoms at onset in all patients of the classical type were acroparesthesias and hypohidrosis,while various in the late-onset patients. The most frequent symptoms in our group were ophthalmological abnormalities （ 79.5 % ） , followed by renal abnormalities （ 74. 7 % ） , acroparesthesias （ 67.5 % ） , cardiac abnormalities （56. 3% ） , hypohidrosis （51.8%）, cerebrovascular abnormalities （44. 1% ）, hearing loss （40. 6% ）, angiokeratomas （ 36. 1% ） , hypertension （ 34. 9% ）, and gastrointestinal symptoms （ 22.9% ）. The severity of clinical mani- festations was higher in males and the classic cases than that in females and the late-onset cases. Electron microscopy plays a very important role in pathological diagnosis of these patients. Misdiagnosis and missed diagnosis may occur without elec- tron microscopy. Forty percent of renal samples showed IgA deposition, being confounded easily with primary IgA nephropa- thy. Conclusion Onset of Fabry disease is early. Many organs are involved and patients present with different clinical man-ifestations. There are great differences in clinical features between male and female patients. Misdiagnosis and missed diag- nosis still exist, and renal pathological examination is of great importance in diagnosis. Electron microscopy is essential to re- duce the misdiagnosis and missed diagnosis.