恶性婴儿型石骨症1例并文献复习

目的 通过分析本院收治的1例婴儿型石骨症,结合文献探讨该病的临床特点、X线表现、诊断、治疗。 方法 对我院确诊的1例婴儿型儿石骨症的临床资料进行分析及文献复习。 结果 本病临床特点主要为全身性骨质硬化,进行性贫血,肝脾肿大,骨髓穿刺难以成功,骨胳X线具有确诊意义;造血干细胞移植是惟一的根治性手段,要尽早进行。 结论婴儿型石骨症非常罕见,根据临床和X线骨密度普遍增高可以确定诊断。造血干细胞移植是惟一根治性办法。     

石骨症的临床及X线表现——着重分析7个家族22例

目的探讨家族性石骨症的遗传、临床及X线表现特点.方法对59例石骨症患者临床资料作回顾性总结分析.结果在家族性病例中以恶性型(幼儿型)居多,多在Ⅰ、Ⅱ代发病,偶见连续三代发病者.散发型中则以良性型(成人型)为主.X线表现以骨质硬化,髓腔闭塞为基本特征,椎体"夹心征"及髂骨"同心圆征"为其特征性表现.结论临床工作中要注重对石骨症患者进行家系调查,尤其对有遗传倾向者,有必要在胎儿期进行检测.     

石骨症的X线与临床分析（附19例报告）

目的 探讨石骨症的临床及X线特点。方法 以19例石骨症病人的临床资料和X线图像进行综合分析。结果 ①就诊原因：本组有15例因外伤或其他闰疾患摄片发现,4例受邀检查。②家族关系：19例中有7例来自3个家族,其他12例各来自不同的家族。③X线表现：主要表现骨骼广泛性密度增高硬化,骨小梁增粗。不同部位的特点各异。④并发症：骨折（10例）;髋内翻（2例）;股骨头缺血性坏死（1例）。结论 本病临床症状缺乏特征性,诊断主要依靠X线检查,椎体的“夹心蛋糕”征象,髂骨翼的“年轮状”及长管骨的“粉笔状”征象为影像学的特点。     

石骨症的临床X线诊断

目的：探讨石骨症临床及Ｘ线表现,提高对本病的认识。方法：总结７例（男４例,女３例）石骨症患者,其中１例属恶性型,６例属良性型,结合有关文献对其临床及Ｘ线表现进行分析及总结。结果：石骨症的Ｘ线改变基本表现为全身骨质密度普遍性增高,较肯特征性Ｘ线征象有：（１）夹心推征;（２）髂骨翼同心圆环状征;（３）骨中骨征;（４） 干骺端杵状膨大及伴浓谈交替横纹影等。结论：本病的Ｘ线表现具有特征性。Ｘ线检查有确诊价     

贲门失弛缓症32例临床分析

目的：探讨贲门失弛缓症的临床特征，诊断治疗方法。方法：回顾我院1992年～2001年共收治贲门失弛缓症32例，从性别、年龄、病程、主要临床表现及并发症，X线、内镜、食管压力测定及治疗多方面来分析其特点。结果：此病男女发病无明显差别，以20～40岁多见，本组20例占62．5％，临床的间歇性吞咽困难29例(90．6％)，无酸性呕吐27例(84．2％)，食管返流18例(56．2％)，胸骨后疼痛及不适18例(56．2％)为主要表现，X线钡餐检查是诊断本病的主要手段，本组诊断率为94．3％，明显高于内镜的诊断率78％，食道测压有助诊治。治疗先用药物、扩张无效，狭窄严重可采用Heller氏手术或改良Heller氏手术。结论：贲门失弛缓症发病率占食管疾病的4～7％，临床表现有其特点，依靠X线钡餐检查即可确诊，故医生应提高对本病的认识。     

胃淋巴瘤61例诊断分析

目的 探讨胃淋巴瘤患者的胃镜、X线钡餐检查表现，以提高对该病的诊断率。方法 回顾分析经手术病理证实的61例淋巴瘤患者的胃镜、X线和治疗资料。结果 X线误诊率为80％，胃镜误诊率为59％。结论 熟练掌握胃淋巴瘤胃镜、X线表现，同时结合临床表现能提高本病的诊断率。     

石骨症1例

石骨症较少见，我院遇1例，报告如下。病例男，72岁。以发烧、腹疼就诊．平时健康，四肢轻酸疼，无其他不适。查体肝大明显，到实下5cm．临床实验室检查未见异常。X线检查：全身骨胳广泛致密硬化，肋骨、锁骨致密（图1）。骨盆、长短管状骨皮质增厚致密，”腔变窄（图2、3）。X线诊断；石骨症。本病分成人型和幼儿型。成人型临床表现轻，往往因其他疾病进行X线检查发现：幼儿型多伴严重贫血，继发感染死亡。病因不情，有家族遗传性，有人认为与甲状腺降钙素活性增高有关，X线表现有特征性，但需与氟、铅、磷中毒鉴别。石骨症1例@李金财$吉…     

石骨症3例报告并文献复习

目的:探讨石骨症的临床表现以及诊断治疗。方法:对3例病例临床资料进行回顾,并结合文献进行总结分析。结果:石骨症是一种常染色体遗传疾病,临床分为恶性型和良性型两种,发病机理为破骨细胞功能缺陷,主要特点为全身性的骨质硬化,可表现为进行性贫血肝脾肿大,容易出现骨折。例1:男,69岁,经溶栓降压治疗,同时抗感染,护心护肝治疗,患者症状消失,病情稳定后出院。例2:男14岁,以对症支持治疗为主,症状缓解后出院。例3:女,11个月,确诊后亲人放弃治疗出院。结论:本病发病率低,属于罕见病,恶性型预后不良,治疗以对症治疗为主。     

家庭性石骨症——附8个家族24例报告

目的：研究家族性石骨症的特点,材料与方法：收集８个家族共２４例石骨症。分析家族发病情况及临床Ｘ线诊断。结果：２４例中,男１２例,女１２例,平均年龄２１岁。６例有临床症状,８个家族发病情况分别为父－子、父－女患病各２例,母－子、母－女患病各１例,姐妹患病３例,兄弟患病１例。结论：本文２４例石骨症均为良性型。本病遗传特点,父、母发病、遗传上无明显性别差异,其子女发病机率相仿,为减少漏诊,对石骨症患者,     

家族性石骨症──附8个家族24例报告

目的：研究家族性石骨症的特点。材料与方法：收集 ８个家族共 ２４例石骨症,分析家族发病情况及临床 Ｘ线诊断。结果：２４例中,男１２例,女１２例,平均年龄２１岁。６例有临床症状。８个家族发病情况分别为父－子、父－女患病各２例,母－子、母－女患病各１例,姐妹患病３例,兄弟患病１例。结论：本文２４例石骨症均为良性型。本病遗传特点：父、母发病,遗传上无明显性别差异,其子女发病机率相仿。为减少漏诊,对石骨症患者,有必要进行详细的家系调查。     

Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis

Carbonic anhydrase II (CA II) deficiency in man is an autosomal recessive disorder manifest by osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include growth failure and mental retardation. Complications of the osteopetrosis include frequent bone fractures, cranial nerve compression symptoms, and dental malocclusion. The anemia and leukopenia seen in the recessive, lethal infantile form of osteopetrosis are not seen in CA II deficient patients. The renal tubular acidosis usually includes both proximal and distal components. Symptoms of metabolic acidosis respond to therapy, but no specific treatment is available for the osteopetrosis or cerebral calcification. We review here the role of carbonic anhydrases in bone resorption and renal acidification, and discuss clinical features and laboratory findings which distinguish CA II deficiency from other disorders producing osteopetrosis, renal tubular acidosis, or brain calcification. Methods to evaluate patients with pure proximal renal tubular acidosis for deficiency of CA IV are also discussed.     

The role of carbonic anhydrase in autosomal dominant osteopetrosis

Twenty-eight patients with two different radiological types of the autosomal dominant form of osteopetrosis, from six different kindreds, were investigated and compared with age- and sex-matched controls, in order to evaluate the role of carbonic anhydrase in this disorder. There were 15 patients with Type I and 13 with type II osteopetrosis. The concentrations of haemoglobin and bicarbonate were normal in both types and without differences between the types. The concentration of carbonic anhydrase isoenzyme II (CA II) in the erythrocytes did not differ from controls in any of the two types. It is concluded that CA II does not seem to play any pathogenetic role in these two different forms of autosomal dominant osteopetrosis.     

Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families

Objectives: Defects in the chloride channel 7 (CLCN7) gene lead to autosomal dominant osteopetrosis type II (ADOII, OPTA2 MIM 166600) and autosomal recessive osteopetrosis, autosomal recessive 4 (ARO, OPTB4 MIM 611490). The objective of the present study was to expand the mutational spectrum and analyze the correlation between mutational sites and clinical phenotypes.

Methods: Seven affected individuals from unrelated Chinese families were clinically examined. X-ray examination and biochemical markers were evaluated. The 25 exons of CLCN7 and exon-intron boundaries were amplified and analyzed; we also used μ-CT to distinguish the features of sclerotic bone from the great trochanter of Pt 6 using the bones of unaffected subject in vitro.

Results: We identified six cases of OPTA2 and one case of OPTB4. One OPTA2 patient displaying life-threatening symptoms died, and the OPTB4 patient presenting a relatively mild clinical course survived. We identified eight different CLCN7 mutations, including three novel mutations (p.G240E, p.F318S, and p.S753W), and μ-CT analysis showed that the volumetric bone mineral density, total porosity and open porosity of sclerotic bone were higher than the control.

Conclusions: The present study revealed three novel mutations, showed the dense but brittle sclerotic bones of an OPTA2 patient, characterized OPTA2 symptoms from benign to fatal and reported a rare intermediate case of ARO in a Chinese population.     

常染色体显性遗传伴外显不全帕金森综合征

目的:确定常染色体显性遗传伴外显不全帕金森综合征的临床特点.方法:详细询问家系的病史,检查症状、体征及疗效等临床特点并与青年型常染色体隐性遗传帕金森综合征做对照.结果:常染色体显性遗传伴外显不全帕金森综合征与常染色隐性遗传帕金森综合征的临床特点有明显差异.结论:对青年型家族性帕金森综合征应早期鉴别诊断,指导该病的临床及基因治疗.     

Thyroid hormone resistance in blood monocyte cells and elevated serum T3 in patients with autosomal dominant osteopetrosis

Seven patients with autosomal dominant osteopetrosis from three different families were investigated. They all had the roentgenological type I disease, characterized by universal, symmetrical osteosclerosis and enlarged thickness of the calvarium vault. Serum concentrations of thyroid hormones and the specific nuclear binding of triiodothyronine (T3) in mononuclear blood cells were studied. All patients appeared clinically euthyroid. The serum level of T3 was significantly elevated (serum T3 = 1.89 nmol/l) compared with normal age and sex-matched controls (serum T3 = 1.44 nmol/l, p less than 0.05). The specific maximal nuclear binding capacity of T3 was significantly decreased (MBC = 0.51 fmol T3/mg DNA) in these patients compared with controls (MBC = 1.8 fmol/mg DNA, p less than 0.05) whereas no difference in the equilibrium association constant (Ka) was observed. The decreased specific nuclear binding of T3 and the slightly elevated serum level of T3 might indicate a modest peripheral resistance to T3 in patients with autosomal dominant osteopetrosis type I.     

艾滋病的胸部X线表现（附20例报告）

笔者回顾性分析了20例艾滋病的临床和胸部X线表现。认为本病的胸部X线表现无特异性。结合文献复习,将胸部X线表现分为(1)浸润型;(2)肺水肿型,(3)肿块型;(4)间质型;(5)胸腔积液型;(6)空洞型;(7)混和型。并从病理学角度对上述表现进行了讨论。     

17例肺泡蛋白沉积症临床分析

目的：总结肺泡蛋白沉积症（PAP）患者的诊治情况，提高对本病的认识。方法：回顾性分析1996年7月～2006年2月复旦大学附属中山医院肺科经病理确诊的17例PAP患者临床资料。结果：17例患者中14例行肺泡灌洗治疗，治疗后14例患者临床症状、胸部CT、血气、肺功均明显改善。结论：本病主要临床表现为咳嗽、进行性呼吸困难、呼吸音减低。胸部CT示两肺地图样片状阴影，呈碎石铺路样改变。X线胸片示：双肺弥漫性分布，多发斑片状、结节状、毛玻璃状、网织状等阴影。确诊根据病理检查结果。支气管肺泡灌洗仍是迄今唯一有效的治疗方法。     

56例类风湿关节炎患者手部影像学资料分析

目的：探讨类风湿关节炎患者（RA）手部X线的表现与临床病程的关系。方法：对56例临床资料完整的RA病例行双手的CR后前位X线检查,并按病程分为2组（A组为为符合类风湿关节炎X线I期表现的30例，B组为符合类风湿关节炎X线II期以上表现的病人26例），分别统计类风湿关节炎患者的活动性指标RF、ESR、CRP及免疫球蛋白的水平并进行两组比较。结果：两组RA患者的急性炎性反应指标ESR、CRP的数值两组比较，差异无显著性（P>0.05）。而类风湿因子及免疫球蛋白的水平，对照组明显高于研究组，两组差异具有显著性（P<0.05）。结论：类风湿关节炎的骨关节的损害的程度与RF和免疫球蛋白的水平有关，而手部X线的影像学检查在RA的早期诊断及判断预后方面具有重要的作用。     

下肺叶结核的临床及X线研究

目的:探讨下肺叶结核的临床表现、X线诊断及鉴别诊断,准确地诊断下肺叶结核。方法:回顾性分析30例下肺叶结核患者的临床资料,所有病例均有胸部正侧位片资料。结果:男21例,女9例,好发于青壮年,18~35岁者占87%;病程缓慢,症状不重,无明显结核中毒症状,主要症状是咳嗽、吐血丝痰、胸痛、乏力、消瘦、盗汗;16例做痰菌培养,8例痰菌阳性;血沉加快者9例。X线表现:右下肺18例,左下肺6例,双下肺6例;各肺段中病灶以下叶背段最多占63%,其次为后基底段占20%;渗出性病灶占46%,增殖病灶占15%,混合性病灶占39%;小叶肺炎型8例,小叶肺炎空洞型4例,节段性肺炎型5例,肺门浓密型3例,结核球型10例;合并少量胸腔积液者2例,肋膈角粘连者4例,伴同侧肺门淋巴结肿大者2例。结论:X线正侧位胸片检查对下肺叶结核的诊断,有较高价值。