Sawada K, Mizoguchi K, Hishida A, Kaneko E, Koide Y, Nishimura K, Kimura M
First Department of Medicine, Hamamatsu University School of Medicine, Japan.
Clin Nephrol. 1996 May;45(5):289-94.
A point mutation in exon 6 of the alpha-galactosidase A gene (alpha-GAL A) was found in a Japanese hemizygous male without typical manifestations of Fabry disease other than renal involvement. This 45-year-old man developed moderate proteinuria and was diagnosed with Fabry disease on the basis of renal histologic findings and prominent decreases in alpha-GAL A activity in his plasma, urine, leukocytes, and skin fibroblasts. Determination of the cDNA sequence of his alpha-GAL A gene revealed substitution of a G to A in codon 301, resulting in a glutamine rather than an arginine residue. Our case is unique in that this patient only demonstrated renal manifestations while all other reported patients with atypical Fabry disease, including a case with the identical point mutation, present with a cardiomyopathy. Direct DNA sequencing of exon 6 and measurement of alpha-GAL A activity among the patient's family confirmed that the mutation was transmitted from his mother.
在一名日本半合子男性中发现了α-半乳糖苷酶A基因（α-GAL A）第6外显子的一个点突变，该男性除肾脏受累外无典型的法布里病表现。这名45岁的男性出现中度蛋白尿，根据肾脏组织学检查结果以及其血浆、尿液、白细胞和皮肤成纤维细胞中α-GAL A活性显著降低，被诊断为法布里病。对其α-GAL A基因的cDNA序列测定显示，密码子301处的G被A取代，导致产生一个谷氨酰胺残基而非精氨酸残基。我们的病例很独特，因为该患者仅表现出肾脏症状，而所有其他报道的非典型法布里病患者，包括一例具有相同点突变的病例，均表现为心肌病。对该患者家族成员的第6外显子进行直接DNA测序以及测量α-GAL A活性，证实该突变是由其母亲遗传而来。
