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目的探讨多巴反应性肌张力障碍(DRD)临床及GTP环化水解酶Ⅰ(GCHⅠ)基因突变特点。方法对14例DRD患儿的临床资料进行总结分析,并对其中6例进行了GCHⅠ基因全长外显子的突变检测。结果14例患儿平均发病年龄为(10±3)岁,女性起病较男性早,发病年龄(9±4)岁,男性发病年龄(12±1)岁。常见的首发症状为步态异常、下肢僵硬和震颤。伴晨轻暮重者9例(64％)。小剂量多巴制剂治疗3个月后痊愈13例(93％),显效1例(7％),长期随访未发现多巴制剂的不良反应。对6例患儿进行GCHⅠ基因突变检测,在3例患儿中发现了2种GCHⅠ基因突变。其中一家系2例患儿存在第6号外显子的Lys224Arg杂合错义突变,临床表型较轻,与国外研究报道一致。在1例散发病例中发现了国际上未曾报道过的位于第3号外显子的Gln161Pro突变,临床表型较重。结论DRD临床表现复杂多样,晨轻暮重是其特点之一。多巴制剂对其有快速、显著和持续的疗效。GCHⅠ基因突变类型与临床表型之间有一定关联,对GCHⅠ基因突变的检测有助于不典型病例的早期诊断。
Objective To investigate the clinical features of dopa-responsive dystonia (DRD) and the GCHⅠ gene mutation. Methods The clinical data of 14 children with DRD were analyzed and the mutations of the full-length exon of GCHⅠ gene were detected in 6 of them. Results The average age of onset in 14 cases was (10 ± 3) years old. The incidence of women was earlier than that of men, the age of onset was (9 ± 4) years, and the age of onset was (12 ± 1) years. Common initial symptoms of abnormal gait, lower extremity stiffness and tremor. With mild morning heavy in 9 cases (64%). Thirteen cases (93%) were cured after three months of treatment with low-dose dopa, and one case (7%) was cured. Long-term follow-up did not find any adverse effects of dopa preparation. Six cases of GCH Ⅰ gene mutations were detected in 3 cases of children found two GCH Ⅰ gene mutations. One of the two cases had Lys224Arg missense mutation in exon 6, with a mild clinical phenotype, which was consistent with the reports from other countries. In one case of sporadic cases, the Gln161Pro mutation located on exon 3 was not reported in the world. The clinical phenotype was heavy. Conclusions The clinical manifestations of DRD are complex and diverse, with one of the characteristics of morning glory and twilight. Toba preparations have a rapid, significant and sustained effect. GCH Ⅰ gene mutation type and clinical phenotype have a certain relationship between the detection of GCH Ⅰ gene mutations help to atypical cases of early diagnosis.