Dentinogenesis imperfecta associated with osteogenesis imperfecta: report of two cases

Osteogenesis imperfecta (OI) is a heritable systemic disorder of the connective tissue. Dentinogenesis imperfecta (DI), which is sometimes an accompanying symptom of OI, belongs to a group of genetically conditioned dentin dysplasias and is characterized clinically by an opalescent amber appearance of the dentin. Although the teeth of DI cases wear more easily and excessively compared to normal teeth, they do not appear to be more susceptible to dental caries than normal teeth. Two cases of DI associated with OI are presented in this paper, with 1 case suffering from nursing bottle caries. The purposes of this paper are to present the dental and skeletal characteristics of moderately and mildly involved DI associated with OI, and to discuss the possible methods of dental treatment. Patients with OI and opalescent teeth should be evaluated as soon as the deciduous teeth erupt; immediate dental involvement and oral hygiene instruction can be of help in reducing the necessity of extensive dental care.     

成骨不全症诊断与治疗的研究进展

成骨不全症(OI)是一种由于骨基质合成障碍和内稳态紊乱所致的骨骼脆性增加、反复骨折和进行性骨畸形为特征的遗传性结缔组织疾病,根据临床症状分为SillenceⅠ~Ⅴ型。OI发病与Ⅰ型胶原编码基因及其代谢相关基因突变有关,其遗传方式包括常染色体显性遗传、常染色体隐性遗传和X染色体连锁遗传。OI所致的心肺并发症是OI死亡的常见原因,OI的治疗需多学科的合作。文章对OI的诊断与治疗进展进行综述。     

成骨不全的影像学表现

本文主要总结了成骨不全的一些影像学表现。包括X线、CT、MRI和超声检查。其中超声检查主要用于产前诊断。成骨不全的影像学特征主要有颅底凹陷征,增生性骨痂,骨折,骨量减少,Wormian骨,骨膜反应,干骺端硬化,骨形态改变,四肢关节改变以及脊柱侧凸等。根据其影像学特征及临床特点,能够对成骨不全作出早期诊断。     

Strangulated diaphragmatic hernia in a patient with osteogenesis imperfecta

Hernias are common in patients with osteogenesis imperfecta, but to our knowledge there have been no reports of diaphragmatic hernias in such patients. We describe a patient with osteogenesis imperfecta in whom a diaphragmatic hernia contained a strangulated segment of the splenic flexure of the colon. Resection of the necrotic tissue and transverse colostomy resulted in an uneventful recovery.     

Benefit of infusions with ibandronate treatment in children with osteogenesis imperfecta

Background  Osteogenesis imperfecta (OI) is a rare bone disease and its effective treatment is relatively deficient. We tried to assess the effects of new bisphosphonate, ibandronate on children with OI.

Methods  In this open-label, prospective, controlled study, 30 children with OI were enrolled. They received either infusions of ibandronate (2 mg) in every three months or oral calcitriol 0.25 μg daily for 24 months. All patients took 500 mg calcium plus 200 U vitamin D daily together. The endpoints were the change of annual new fracture rate (observed by case history and X ray films of spine), bone mineral density (BMD, measured by dual energy X-ray absortiometry), serum concentration of carboxy-telopeptide cross-links of type I collagen (CTX, bone resorption marker) and alkaline phosphatase (ALP, bone formation marker) during the follow-up.

Results  After the cyclic infusions of ibandronate, the annual new fracture rate was significantly decreased from 1.9 to 0.13 time, obviously lower than that of calcitriol group, which decreased from 1.8 to 1.0 time after the treatment (P <0.001). The significant increase of BMD at the lumbar spine, femoral neck, trochanter, total hip was found in the group of ibandronate by 59.0%, 42.0%, 47.5% and 36.6% in time dependent manner (compared with the baseline, P <0.001). The increase of BMD in ibandronate group was greater than that of calcitriol group (P <0.001). The concentrations of ALP and CTX were obviously decreased in ibandronate group, and the reduction of CTX was more significant than that of ALP (P <0.001). The tolerance of the children to ibandronate was quite well. Mild fever and muscle pain were found in 9 cases within 1–3 days after the first infusion of ibandronate, which could relieve after 1–2 days without special management.

Conclusions  The benefits of cyclic infusions of ibandronate to children with OI are significant because ibandronate could significantly reduce annual bone fracture rate, increase lumbar and hip BMD, preserve vertebral morphometry of patients through inhibition of bone resorption.

     

家族性成骨不全症2例报告

目的总结帕米膦酸钠在成骨不全症中的应用经验。方法对2007年我院收治的2例成骨不全症的治疗进行回顾分析。结果两例对帕米膦酸钠有较好耐受性。治疗随访期间未再发骨折。结论帕米膦酸钠对成骨不全症有较好疗效，但需更多病例观察。     

The co-existence of primary hyperparathyroidism and osteogenesis imperfecta

A 47-year-old patient suffering from osteogenesis imperfecta was found to have mild hypercalcemia. The latter proved to be due to a parathyroid adenoma. The clinical and laboratory features of this association are summarized, and the implications of serum calcium abnormalities in osteogenesis imperfecta are discussed.     

一例成骨不全患者的遗传系谱

整理者附记 北京医科大学人民医院前院长钟惠澜教授早年曾对一例成骨不全(osteogenesis imperfecta)成年患者进行过极为详细的遗传系谱调查,并在1950年2月4日就此病例组织一次全院性病例讨论.并嘱我(当时是负责该患者的住院医师)将原表照抄一份以备日后成文.但以后由于种种原因直至1987年钟师逝世前未再提及此事.今年初整理当年学习笔记时,发现此份记录.由于在本病成年患者的遗传学调查中,多数家系资料较少,故作一简单报告以纪念钟师对本病的贡献.     

骨肽治疗成骨不全症临床观察

目的观察骨肽治疗成骨不全症的临床疗效。方法选择成骨不全症患者40例分成两组，骨肽为治疗组20例，其他方法20例，治疗1、2疗程后，将两组进性对比分析。结果两组比较治疗组总有效率达95％以上。对照组总有效率60％，两组差异有显著性（P〈0．01）。结论骨肽治疗成骨不全症是一种有效的药物。治疗方法简便，效果好，安全，适合各层次的医疗单位。     

成骨不全1例及文献复习

成骨不全症(Osteogenesis imperfecta,OI),又称脆骨病或脆骨-蓝巩膜-耳聋综合征,是一种罕见的由骨基质合成障碍和内稳态紊乱所致的先天性骨骼发育障碍性疾病,患病率仅为1/20000～1/15000.此病有明显的家族史和遗传性,以常染色体显性遗传为主,部分病例为常染色体隐性遗传和X染色体连锁遗传,也...     

The quality of genetic counselling in osteogenesis imperfecta.

A survey is reported of the genetic advice given to 272 families with osteogenesis imperfecta. An appreciable number of families were not given advice by anyone even though they had asked for it, and only one quarter of the families had been referred to a clinical genetic specialist. Overall approximately one third of the information recollected as having been received was incorrect but genetic specialists were clearly more successful than other doctors.     

基于混合研究的成骨不全症患儿生存质量分析

目的 调查西南地区成骨不全症儿童的生存质量现状,分析影响因素,为拟定家庭疾病管理方案提供参考。方法 采用混合研究调查成骨不全症患儿的生存质量。质性研究采用现象学研究,对20名来自某三甲儿童医院的成骨不全症照顾者进行半结构式访谈,运用Colaizzi 7步分析法对访谈资料进行整理分析。量性研究采用儿童生存质量普适性量表评估西南地区34名成骨不全症患儿的生存质量,并将同龄健康儿童作为对照组;采用单因素及多元线性回归分析确定影响因素。结果 ①生存质量主题,担心骨折,疼痛耐受性高,辅助行走器械缺乏,同伴交往减少,学校氛围良好。②成骨不全症患儿生存质量低于健康人群,总分（t=-6.732,P<0.001）、生理功能（P=0.000）和社交维度（P=0.000）差异有统计学意义;多元线性回归显示独立行走能力（t=3.490,P=0.001）和固定玩伴（t=3.164,P=0.003）进入回归方程（P<0.05）,共解释生存质量得分变异的40.9%。结论 提升成骨不全症儿童的生存质量需建立家庭疾病管理能力。医务人员需从知识普及、就医指导、未来规划、规避潜在问题等方面建立其慢病管理能力。