Wang Qin, Ni Jia, Zhang Xiong, Li Yi, Xuan Dongying, Zhang Jincai
Department of Periodontology, Guangdong Provincial Stomatological Hospital, Southern Medical University, S366 Jiangnan Boulevard, Guangzhou 510280, China; Department of Microbiology, School of Public Health & Tropical Medicine, Southern Medical University, Tonghe, Guangzhou 510515, China.
Department of Periodontology, Guangdong Provincial Stomatological Hospital, Southern Medical University, S366 Jiangnan Boulevard, Guangzhou 510280, China.
Clin Chim Acta. 2014 Jun 10;433:93-5. doi: 10.1016/j.cca.2014.01.046. Epub 2014 Feb 9.
Acatalasemia is a rare genetic catalase deficiency that is inherited as an autosomal recessive trait. Although usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present (Takahara's disease). In this report, we presented the diagnosis and 15-y periodontal treatments of an acatalasemia patient with Takahara's disease in China.
To confirm the diagnosis of acatalasemia, intron 4 of the catalase gene was amplified and sequenced. Erythrocyte catalase activity was measured by ultraviolet spectrophotometer. Besides, periodontal treatments and 15y follow-up were performed.
Direct sequencing showed a clear splicing mutation of guanine to adenine substitution at the fifth position of intron 4 in the patient. Erythrocyte catalase activity of the patient (5.2MU/l, 4.6%) was 10% lower than the normal range (113.3±16.5MU/l). After 15-y treatments, the periodontal pocket depth ≥4mm and clinical attachment loss reduced to 30% and 3.7±1.2mm.
Based on these findings, a diagnosis of acatalasemia was established. And the periodontal therapies have achieved a stable periodontal status.
无过氧化氢酶血症是一种罕见的遗传性过氧化氢酶缺乏症，呈常染色体隐性遗传。虽然通常无症状，但可能会出现口腔溃疡和坏疽综合征（原田病）。在本报告中，我们介绍了中国一名患有原田病的无过氧化氢酶血症患者的诊断及15年的牙周治疗情况。
为确诊无过氧化氢酶血症，对过氧化氢酶基因的第4内含子进行扩增和测序。用紫外分光光度计测量红细胞过氧化氢酶活性。此外，进行了牙周治疗及15年随访。
直接测序显示该患者第4内含子第5位存在明显的鸟嘌呤到腺嘌呤的剪接突变。患者的红细胞过氧化氢酶活性（5.2MU/l，4.6%）比正常范围（113.3±16.5MU/l）低10%。经过15年治疗后，牙周袋深度≥4mm及临床附着丧失分别降至30%和3.7±1.2mm。
基于这些发现，确诊为无过氧化氢酶血症。并且牙周治疗取得了稳定的牙周状态。
