Abstract | BACKGROUND: 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.
|
Authors | Qin Wang, Jia Ni, Xiong Zhang, Yi Li, Dongying Xuan, Jincai Zhang |
Journal | Clinica chimica acta; international journal of clinical chemistry
(Clin Chim Acta)
Vol. 433
Pg. 93-5
(Jun 10 2014)
ISSN: 1873-3492 [Electronic] Netherlands |
PMID | 24522161
(Publication Type: Case Reports, Journal Article)
|
Copyright | Copyright © 2014 Elsevier B.V. All rights reserved. |
Topics |
- Acatalasia
(complications, diagnosis, diagnostic imaging, therapy)
- Adult
- Child
- Follow-Up Studies
- Humans
- Male
- Periodontitis
(complications)
- Radiography
|