Division of Pediatrics, Endocrine Unit, Department of Obstetrics, Gynecology and Pediatrics, University-Hospital, Via Roma 67, 56126, Pisa, Italy.
Division of Dentistry and Oral Surgery, Department of Surgical Specialties, University-Hospital, Pisa, Italy.
J Bone Miner Metab. 2021 Mar;39(2):212-223. doi: 10.1007/s00774-020-01136-8. Epub 2020 Aug 8.
Rickets, growth failure, and recurrent periapical abscesses with fistulae are main signs in patients with X-linked hypophosphatemic rickets (XLH). Prevalence of abscesses, pulp chamber features, biochemical findings, disease severity, and PHEX gene mutation were examined.
Pulp chambers size, shape, and morphology were assessed by orthopantomography in XLH patients (n = 24, age 5.8 ± 1.6 years) and in sex and age-matched healthy controls (n = 23, age 6.2 ± 1.4 years). XLH patients received conventional treatment (3.5 ± 1.9 years). Pulp chamber features were assessed in teeth of primary dentition and in the permanent left mandibular first molar and compared with those of controls. Rickets severity score was assessed at wrist, knee, and ankle.
The mean pulp chamber area/tooth area ratio, mean pulp chamber height/pulp chamber width ratio, and prominence of pulp horns into the tooth crown in primary and secondary molars were significantly higher in patients than in controls and in patients suffered abscesses than in patients without abscesses. Sixteen patients (67%) had a history of abscesses; incisors were affected more than canines and molars. Severity of rickets and mean serum parathyroid hormone (PTH) levels were significantly higher, and mean serum 1,25-dihydroxyvitamin D [1,25(OH)D] levels significantly lower in patients suffered abscesses than in patients without abscesses. PHEX gene mutations were not correlated with dental phenotype and disease severity.
Enlarged pulp chambers with altered shape and morphology affected the majority of XLH patients predisposing to recurrent periapical abscesses with fistulae. Dental phenotype was associated with severity of rickets, high serum PTH, and low serum 1,25(OH)D levels.
佝偻病、生长发育迟缓以及复发性根尖脓肿伴瘘管是 X 连锁低磷性佝偻病（XLH）患者的主要表现。本研究旨在检查脓肿的发生率、牙髓室特征、生化指标、疾病严重程度和 PHEX 基因突变情况。
通过全景片评估 24 例（年龄 5.8±1.6 岁）XLH 患者和 23 例（年龄 6.2±1.4 岁）性别和年龄匹配的健康对照者的牙髓腔大小、形状和形态。XLH 患者接受了常规治疗（3.5±1.9 年）。评估了恒牙列中第一磨牙的牙髓腔特征，并与对照组进行了比较。采用手腕、膝盖和脚踝的佝偻病严重程度评分进行评估。
与对照组相比，患者的平均牙髓腔面积/牙面积比、平均牙髓腔高度/牙髓腔宽度比以及牙髓角向牙冠突出的程度在乳磨牙和恒磨牙中均显著更高；在患有脓肿的患者中，这些值均显著高于未患有脓肿的患者。16 例（67%）患者有脓肿病史；切牙比尖牙和磨牙更容易受影响。患有脓肿的患者的佝偻病严重程度和平均血清甲状旁腺激素（PTH）水平显著较高，而平均血清 1,25-二羟维生素 D [1,25(OH)D]水平显著较低。PHEX 基因突变与牙齿表型和疾病严重程度无关。
大多数 XLH 患者的牙髓腔增大，形状和形态发生改变，易发生复发性根尖脓肿伴瘘管。牙齿表型与佝偻病的严重程度、高血清 PTH 和低血清 1,25(OH)D 水平相关。
