Long-term follow-up evaluation of an acatalasemia boy with severe periodontitis.

BACKGROUND: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. METHODS: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. RESULTS: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. CONCLUSIONS:Based on these findings, a diagnosis of acatalasemia was established. And the periodontal therapies have achieved a stable periodontal status.