Department of Conservative Dentistry - Periodontology, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Department of Conservative Dentistry - Oral Pathology, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Spec Care Dentist. 2021 Jan;41(1):103-110. doi: 10.1111/scd.12540. Epub 2020 Nov 12.
Acid sphingomyelinase deficiency (ASMD) is a rare group of autosomal recessive disorders. This report provides the first detailed description of the periodontal condition and treatment response in a patient with chronic visceral ASMD.
A 49-year-old white woman with ASMD showed elevated visible plaque index (VPI), gingival bleeding index (GBI), and bleeding on probing (BOP) at 100% of sites. Periodontal pocket depths (PPD) were mostly shallow to moderate (at 96% of sites), whereas the loss of clinical attachment (CAL) was moderate to severe (54% and 46% of sites, respectively, at 4-6 mm and ≥7 mm categories). Periapical radiographs revealed the presence of furcation involvement and intra-bony defects. The periodontal diagnosis was periodontitis stage IV, generalized, grade C. Ninety days after the end of the supra and subgingival control (e.g., cause-related therapy), marked reduction was observed for all periodontal indicators: VPI (-83%), GBI (-79%), BOP (-85%), elimination of sites PPD ≥7 mm, 27% increase in sites PPD 1-3 mm (from 64% to 91%), and gain of clinical attachment (gain of 11% CAL 1-3 mm and 25% CAL 4-6 mm; and a reduction of 36% CAL ≥7 mm).
Despite the severity of the initial periodontal condition, the patient with chronic visceral ASMD responded well to the non-surgical periodontal treatment.
酸性鞘磷脂酶缺乏症（ASMD）是一组罕见的常染色体隐性遗传病。本报告首次详细描述了一名慢性内脏 ASMD 患者的牙周状况和治疗反应。
一名 49 岁的白人女性患有 ASMD，其可见菌斑指数（VPI）、牙龈出血指数（GBI）和探诊出血（BOP）在 100%的位点均升高。牙周袋深度（PPD）多为浅至中度（96%的位点），而临床附着丧失（CAL）为中至重度（4-6mm 和≥7mm 两个类别中分别有 54%和 46%的位点）。根尖片显示存在分叉病变和骨内缺损。牙周病诊断为牙周炎 IV 期，广泛型，C 级。在龈上和龈下控制（例如，病因相关治疗）结束后 90 天，所有牙周指标均有显著改善：VPI（-83%）、GBI（-79%）、BOP（-85%）、消除了 PPD≥7mm 的位点，PPD 1-3mm 的位点增加了 27%（从 64%增加到 91%），临床附着增加（1-3mm 增加了 11%的 CAL，4-6mm 增加了 25%的 CAL；7mm 以上的 CAL 减少了 36%）。
尽管初始牙周状况严重，但患有慢性内脏 ASMD 的患者对非手术牙周治疗反应良好。
