CARDIOCYTE STORAGE AND HYPERTROPHY AS A SOLE MANIFESTATION OF FABRYS-DISEASE - REPORT ON A CASE SIMULATING HYPERTROPHIC NONOBSTRUCTIVE CARDIOMYOPATHY
CARDIOCYTE STORAGE AND HYPERTROPHY AS A SOLE MANIFESTATION OF FABRYS-DISEASE - REPORT ON A CASE SIMULATING HYPERTROPHIC NONOBSTRUCTIVE CARDIOMYOPATHY
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DOI：
10.1007/bf01606034
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发表时间：
1990-10-01
期刊：
影响因子：
--
通讯作者：
DORAZILOVA, V
中科院分区：
文献类型：
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作者：
ELLEDER, M;BRADOVA, V;DORAZILOVA, V
法布里病被诊断为一个成年患者的脂质储存诱导的非梗阻性肥厚型心肌病。稳定型心绞痛在死亡前15年开始，随后是缓慢进行性心力衰竭和反复肺血栓栓塞，在63年死亡。尸检发现巨大的心脏肥大（1100 g），心脏储存的神经酰胺三己糖苷（CTH）的强度相同，在经典的情况下，广泛性法布里病（11毫克脂质/克湿重）限制在心肌细胞。其他组织（肝脏、肾脏、脑、胰腺、肺动脉、冠状动脉）无储存。使用质子磁共振分析甲醛固定的组织，存储的CTH被确定为globotriaosylceramide。对照细胞培养物可将其酶促降解，但突变型参考法布里细胞未将其裂解。患者四个女儿的外周血白细胞中α-半乳糖苷酶活性均在杂合子范围内。在这种单一症状的新变种法布里病的诊断困难强调。
Fabry's disease was diagnosed in an adult patient as a lipid storage-induced non-obstructive hypertrophic cardiomyopathy. Stable angina pectoris started 15 years before death, was followed by slowly progressive heart failure and repeated pulmonary thromboembolism with death at 63 years. Autopsy disclosed enormous cardiomegaly (1100 g), cardiac storage of ceramide trihexoside (CTH) of the same intensity as in classical cases of generalized Fabry's disease (11 mg lipid/g wet weight) restricted to cardiocytes. Other tissues (liver, kidney, brain, pancreas, pulmonary artery, coronary arteries) were free of storage. Using proton magnetic resonance analysis on formaldehyde-fixed tissue the stored CTH was identified as globotriaosylceramide. It was enzymatically degradable by control cell cultures but left uncleaved by mutant reference Fabry cells. Alpha — galactosidase activities in peripheral leucocytes of all four of the patient's daughters were in the heterozygous range. The diagnostic difficulties in this monosymptomatic novel variant of Fabry's disease are stressed.