RISK OF SERIOUS ILLNESS IN HETEROZYGOTES FOR ORNITHINE TRANSCARBAMYLASE DEFICIENCY
RISK OF SERIOUS ILLNESS IN HETEROZYGOTES FOR ORNITHINE TRANSCARBAMYLASE DEFICIENCY
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DOI：
10.1016/s0022-3476(86)80989-1
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发表时间：
1986-02-01
影响因子：
5.1
通讯作者：
TROJAK, J
中科院分区：
文献类型：
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作者：
BATSHAW, ML;MSALL, M;TROJAK, J
鸟氨酸转氨基甲酰基酶（OTC）缺乏症是一种与高氨血症相关的x连锁疾病。杂合子女性有不同的临床表现，从无症状的疾病到反复发作的高氨血症昏迷。我们研究了17个缺乏otc的种类，包含114名有杂合风险的女性。通过谱系分析、蛋白质不耐受史、蛋白质耐受性试验或DNA探针研究，其中61名妇女被指定为杂合子。61例杂合子中有11例（18%）经历过脑病发作；9名（82%）女孩在这些事件中死亡。我们的研究结果表明，OTC缺乏症的女性杂合子有明显的症状性高氨血症风险。我们建议，在缺乏otc的种类中，应该通过蛋白质耐受性测试和DNA探针研究来早期识别有风险的女性。蛋白质负荷后出现明显高氨血症的患者应考虑长期替代途径治疗，并在高氨血症发作期间接受积极治疗。
Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder associated with hyperammonemia. Heterozygous females have variable clinical expression, ranging from asymptomatic illness to recurrent episodes of hyperammonemic coma. We studied 17 OTC-deficient kindreds containing 114 women at risk for heterozygosity. Sixty-one of these women were designated heterozygotes by pedigree analysis, history of protein intolerance, protein tolerance tests, or DNA probe studies. Eleven (18%) of the 61 heterozygotes had experienced encephalopathic episodes; nine (82%) girls died during these episodes. Our findings indicate that there is a significant risk of symptomatic hyperammonemia in females heterozygous for OTC deficiency. We suggest that, within OTC-deficient kindreds, females at risk should be identified early, by means of protein tolerance tests and DNA probe studies. Those who develop significant hyperammonemia after a protein load should be considered for long-term alternate pathway therapy and should receive aggressive therapy during hyperammonemia episodes.