成骨不全症治疗新药研究进展

成骨不全症是以骨骼脆性增加、反复骨折为主要临床表现的遗传性骨病,属于诊断及治疗均面临挑战的罕见病,目前尚缺乏有效的针对病因的治疗策略.近年来研究显示双膦酸盐,甲状旁腺素氨基端片段,针对核因子KB受体活化因子配体、骨硬化素和转化生长因子-B等的单克隆抗体药物,有望增加骨密度、改善骨骼微结构且降低骨折风险.本文综述成骨不全症的治疗新药研究进展.     

成骨不全症2例报告

目的报道2例有亲属关系的成骨不全症病例。方法对我院收治的2例成骨不全症患者的病史、临床表现、实验室检查等资料进行回顾总结。结果 2例患者为父子关系,分别为成人及儿童患者。均有多次骨折病史,体格正常,蓝色巩膜,齿列、听力正常。实验室检查未见明显异常。结论成骨不全症不同类型临床表现差异较大,加强对本病的了解,必要时行皮肤活检或基因检测确诊。     

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。     

肥胖型成骨不全症患儿围手术期临床分析及护理体会

成骨不全症患儿容易发生骨折,轻度暴力即可造成严重的骨折,且多见于负重下肢,并常畸形愈合,是一种罕见的遗传性疾病。对于成骨不全症患儿易发、常发、多发的骨折现多采用金属骨针内固定手术治疗,围手术期护理的特殊性较一般骨折相比显得尤为突出,尤其肥胖患儿,更加重了护理的困难程度。2014年4月,我院成功治疗1例肥胖型成骨不全症病理性骨折患儿,现将围手术期护理体会总结如下:     

迟发型成骨不全症一例分析

成骨不全症是一种以骨质脆弱为主要临床表现的少见疾病，又称为脆骨一蓝巩膜一耳聋综合征。骨膜和间充质发育不全及遗传性脆骨为其三联征，有明显的家族遗传性。目前，国际医学界对此病尚缺乏比较成熟的治疗方法。本文报道1例比较典型的迟发型成骨不全症病例，对其临床表现、诊断及治疗进行探讨。     

成骨不全家系分析并文献复习

成骨不全症是以骨脆弱和骨畸形为临床特征的常染色体显性或隐性遗传缺陷的结缔组织病,临床罕见,根据主要临床表现和影像学结果来确诊。现发现成骨不全症家系一例,面对基因学和细胞学正在不断深入的研究,笔者以此家系为基础,对其发病机制、诊断、治疗及康复等问题予以阐述并文献复习。     

成骨不全症5例临床分析

为加强对成骨不全症诊断及治疗的认识，对5例成骨不全症病人的临床资料及放射学图像进行分析、总结，提出骨脆性增加，多发性、易发性骨折，蓝巩膜及耳聋为该症临床特征；全身骨骼普遍性骨密度减低是本症放射学上突出表现；骨折治疗以采用手法复位外固定并加强保护的保守治疗为佳。     

先天性成骨不全症与致密性成骨不全症(附3例报告)

成骨不全症系指中胚层先天性发育障碍而致之骨发育异常,属常染色体遗传性疾病,至今尚无有效治疗方法。因此,提高对遗传性疾病的警惕性和改进早期诊断方法,极为重要。本文报道先天性成骨不全症(Osteogenesis imperfecta)2例及致密性成骨不全症(Pycondysostosis)1例,并介绍产前诊断方法,望能引起重视,以适应优生工作。     

成骨不全症临床及X线诊断

目的:探讨成骨不全症的临床及X线特征。方法:回顾性分析6例成骨不全症患者的临床及X线表现。结果:6例均有不同程度的多发性骨折,5例患者有蓝巩膜,3例患者听力减退,2例患者牙质形成不全,1例患者前囟增大,2例患者出现鸡胸或肋串珠,4例发育迟缓,身材矮小,四肢呈蛙肢,2例患者静息心率增加、多汗。X线表现为骨质疏松、骨质菲薄、囟门闭合延迟、多处骨折。脊柱椎体楔形改变,骨质密度减低。结论:成骨不全症可根据典型临床表现及X线征象诊断。     

成骨不全症的X线诊断(附2例报告)

目的:结合文献复习成骨不全症的X线诊断。方法:回顾性分析2例确诊成骨不全症患儿的临床和X线表现。结果:本组成骨不全症患儿骨骼普遍性骨质疏松,长骨见不同时期骨折,骨干弯曲变形,其中1例肋骨后部变形,前端膨大,脊柱椎体双凹变形或压缩变扁,骨盆畸形。结论:X线诊断成骨不全症有一定的特征,为临床提供重要诊断依据。结合临床及X线特点,可以和多种骨质疏松性骨病鉴别。     

遗传性成骨不全家系分析

目的探讨遗传性成骨不全（osteogenesis imperfecta,oI）一家系特征。方法2011年6月对河南安阳0I家系进行问卷调查、专科检查,搜集临床资料,绘制家系图谱,分析临床特点和遗传方式。结果该家系4代40人,患者10例,现存活患者7例,其中男5例,女2例。存活7例均存在骨折病史、骨骼畸形、蓝色巩膜、牙齿发育异常,3例听力受损,3例出现骨折愈合不良。结论该家系临床诊断符合SillenceI型成骨不全,遗传方式为常染色体显性遗传。     

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。     

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.     

A type IV osteogenesis imperfecta family and pregnancy: a case report and literature review

Osteogenesis imperfecta is a group of inherited connective-tissue disorders in which synthesis or structure of type I collagen is defective and causes osseous fragility. Type IV osteogenesis imperfecta is dominant inheritance. Here, we report a case of type IV osteogenesis imperfecta family and their female member’s pregnancy. Abnormal sonographic findings (marked bowing and shortening of long bones) and family history made the diagnosis of fetus with osteogenesis imperfecta. The parents decided to give up rescuing the infant and a caesarean section at 27 weeks of gestation was implemented. In conclusion, it is possible to make a prenatal diagnosis of osteogenesis imperfecta by ultrasound. For the pregnant women with osteogenesis imperfecta, management decision should be made on an individual basis.

     

成骨不全遗传学研究进展

成骨不全是一种遗传性全身结缔组织疾病,以编码Ⅰ型胶原蛋白的基因(COL1A1和COL1A2)突变为主要致病机制,导致Ⅰ型胶原合成障碍,骨脆性增加。本文就成骨不全的临床分型、分子遗传学及治疗进展做一综述。     

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.     

Second-trimester diagnosis of osteogenesis imperfecta associated with schizencephaly by sonography

Osteogenesis imperfecta is a congenital connective tissue disorder characterized with multiple bone fractures, short limbs, membranous calvarium with wormian bones, and sometimes blue sclerae. Osteogenesis imperfecta is rarely accompanied by other major malformations. Although associations with microcephaly, congenital heart defects or anencephaly have been reported previously, association with schizencephaly was not found on literature review. We report a case of osteogenesis imperfecta associated with schizencephaly diagnosed at 21 weeks of gestation using 2-dimensional ultrasound. The present case shows that prenatal ultrasonographic examination is a very important tool to detect such intrauterine abnormalities in which, management of pregnancy would be changed significantly compared to normal pregnancies.     

Osteoporosis in childhood.

Osteoporosis is defined as ''too little normal bone'', the disorder being rarer in children than adults. The varied forms in childhood can be classified as those secondary to some other disease and primary forms of the disorder which include the genetically determined osteogenesis imperfecta types and idiopathic forms of osteoporosis. A plea is made for greater clinical application in attempting to discriminate differing forms of these primary disorders. Osteogenesis imperfecta it is argued is a heterogeneous condition with the evidence favouring both dominantly and recessively transmitted forms in different kindreds. Another possible osteogenesis imperfecta variant is characterized by dwarfing, scoliosis and peculiar cystic lesions of the proximal humeri. Idiopathic juvenile osteoporosis is a term reserved for the acute osteoporosis beginning in the immediate prepubertal years and may differ in its cause from idiopathic osteoporosis beginning rather earlier in childhood. It is emphasized that immobilization osteoporosis is of very great importance and may become superimposed upon other osseous dysplasias. A complete understanding of these conditions will be helped by elucidation of the basic underlying defects in collagen and other constituents of bone matrix.     

Osteogenesis imperfecta in a child presenting with neurological features

A case of osteogenesis imperfecta presenting with a rare neurological complication (spastic paraplegia) is presented. The aetiology of the neurological lesion is discussed.