HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

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

AbstractBACKGROUND:
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.
AuthorsQin Wang, Jia Ni, Xiong Zhang, Yi Li, Dongying Xuan, Jincai Zhang
JournalClinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 433 Pg. 93-5 (Jun 10 2014) ISSN: 1873-3492 [Electronic] Netherlands
PMID24522161 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2014 Elsevier B.V. All rights reserved.
Topics
  • Acatalasia (complications, diagnosis, diagnostic imaging, therapy)
  • Adult
  • Child
  • Follow-Up Studies
  • Humans
  • Male
  • Periodontitis (complications)
  • Radiography

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: