~131Ⅰ治疗Graves病合并周期性麻痹的疗效分析

周期性麻痹为 Graves 病的一种常见神经肌肉并发症,笔者应用~(131)Ⅰ对48例 Graves 病合并周期性麻痹的患者进行治疗,取得了较好的效果,现报道如下。一、资料与方法1.临床资料。Graves 病合并周期性麻痹患者48例,男43例,女5例,年龄28～65岁,平均39岁,Graves 病史3个月～5年。其中19例以周期性麻痹为首发症状,29例先出现甲亢症状,2个月～1年后继发周期性麻痹。所有患者按周期性麻痹程度由重到轻分为3组:A 组,四肢完全瘫痪8例;B组,双下肢瘫痪18例;C 组,发作性双下肢无力伴双大腿肌肉     

肾小管性酸中毒临床及X线分析

目的　探讨肾小管性酸中毒 (RTA)临床及X线表现 ,以提高诊断认识水平。材料与方法　回顾性分析临床确诊为RTA者 2 7例 ,女性占 78% ,平均年龄 30 .3岁。 18例摄有腹部平片 ,6例行静脉肾盂造影 ,4例行肾脏CT检查。结果　继发型占70 .37% ,其中 6 3 .16 %继发于干燥综合征。骨骼改变出现率 45 .8% ,表现为生长迟缓、骨质软化。肾脏钙化出现率 38.9% ,为特征性的双肾锥体乳头部钙化。在病程长 ( >1年 )者中钙化率为 5 0 %。结论　骨骼改变及肾脏钙化是RTA较晚期的表现 ,出现骨骼及肾脏X线异常表现 ,尤其出现双肾锥体乳头部特征性钙化可以确定诊断     

伴神经系统症状的原发性干燥综合征临床分析

目的探讨原发性干燥综合征（pSS）并发神经系统损伤的临床特点以及诊断思路。方法收集2例pSS合并神经系统损伤患者血、脑脊液化验及脊髓、头颅MRI等临床检查资料,总结其临床特点以及诊断难点。结果神经系统损害常为pSS并发神经系统损伤患者的首发症状,在神经系统的表现为多样性、反复性的特点。结论对于疑似pSS并发神经系统损伤的患者详细的病史采集和体格检查是非常重要的,应及早行免疫学等相关检查,最终明确诊断从而得到及时治疗。     

周期性麻痹临床研究进展

周期性麻痹 (ｐｅｒｉｏｄｉｃｐａｒａｌｙｓｉｓ ,ＰＰ)是一组反复发作的代谢性疾病 ,主要表现为发作性肢体麻痹无力。以前人们认为它的发作与血钾代谢有关 ,近年来认为ＰＰ有原发性和继发性两种 ,原发性又称为家族遗传性ＰＰ ,与钾离子在细胞内外的波动有关 ;继发性ＰＰ包括甲状腺功能亢进 (甲亢 )、肾小管性酸中毒、醛固酮增多症等引起的低血钾症 ,Ｊｏｈｎｓｅｎ[1] 报道 ,ＰＰ病人中 10 %～ 2 9 3%伴有甲亢1　低血钾性周期性麻痹 (ＨｙｐｏＰＰ)为常见的类型 ,发作时血钾下降到 3 0ｍｍｏｌ/Ｌ以下。可因注射胰岛素、肾上腺素、氟氢可…     

肾小管性酸中毒并发低血钾症

肾小管性酸中毒的预后与尿毒症性酸中毒完全不同,只须口服药物就可控制病程进展,防止严重的并发症。本病不多见,国内成人仅见4例报告,表现多以骨软化为主,仅1例为低血钾症。国外成人约见100例。现将我们所见表现为低血钾症者一例报告如下。     

甲亢性低钾型周期性麻痹20例临床分析

甲亢性低钾型周期性麻痹是甲状腺功能亢进症常见的神经肌肉并发症,是以反复发作的肢体骨骼肌无力伴有钾代谢异常,血钾浓度减低(低钾血症)为临床特征的神经肌肉疾病。我院自1996年～2003年收治低钾型周期性麻痹患者28例,其中合并甲亢20例,有7例为首发症状,现结合有关资料分析如下。     

Ⅰ型肾小管性酸中毒一例报告

肾小管酸中毒(RTA)是近端或远端肾小管功能障碍所致的临床综合症.迄今文献报道约100余例,但伴有肾实质或髓质钙化及结石者较为少见。我们发现一例Ⅰ型肾小管酸中毒(RTA_Ⅰ)并典型钙化患者报告如下.女,57岁。自1980年开始出现口渴、多饮、多尿、四肢无力、抬头困难症状,经补钾处理后症状缓     

低血钾型周期性麻痹34例分析

周期性麻痹 (ｐｅｒｉｏｄｉｃｐａｒａｌｙｓｉｓ,ＰＰ)是以反复发作的骨骼肌松弛性瘫痪为特征的疾病 ,发作时多伴有血清钾改变 ,临床上以低血钾型最常见 ,其次是正常血钾型和高钾型。我们自 1 995～ 1 998年收治低血钾型周期性麻痹 3 4例 ,分析如下。1　临床资料1 1　一般情况　本组男 2 6例 ,女 8例 ;年龄 1 6～ 62岁 ,平均 3 1 4岁。首次发作 2 0例 ,反复发作 1 4例。发病至就诊时间 1 2ｈ内 1 1例 ,1 2～ 2 4ｈ 1 6例 ,2 4ｈ以上 7例。原发性 2 3例 ,其中家族性 2例 ,散发性 2 1例 ;继发性 1 1例 ,其中甲亢性 8例 ,原发性醛固酮增多…     

甲亢合并周期性麻痹26例临床分析

目的探讨甲亢合并周期性麻痹的临床特点。方法回顾分析了26例甲亢合并周期性麻痹患者的临床资料,部分病例进行随诊。结果26例病员发作时均有不同程度的肢体软瘫,伴有低血钾23例,26例FT3、FT4均高于正常。结论甲亢合并周期性麻痹男性多发,补钾治疗可迅速改善症状,及早控制甲亢,注意饮食,避免劳累对预防周期性麻痹发作具有重要意义。     

干燥综合征肺部病变的HRCT表现

目的:评价干燥综合征肺部病变的HRCT表现.材料和方法:分析52例干燥综合征的肺HRCT图像,观察病变HRCT分型、病变分布特点、原发性干燥综合征与继发性干燥综合征肺病变的不同形态特点.结果:干燥综合征肺部病变的HRCT分型为肺间质增生型32例(61.1%),多发肺气囊型12例(23.5%),及细支气管炎型8例(15.4%);病变分布有上肺野(11.5%)、中肺野(23.0%)至下肺野(30.8%)逐渐加重的特点,且外周分布(65.4%)为主.原发性干燥综合征与继发性干燥综合征肺病变HRCT分型的构成不同(X2=7.74,P＜0.05),间质纤维化程度不同(X2=3.91,P＜0.05).结论:干燥综合征肺病变HRCT表现与分型具有一定特点,有助于临床诊断.     

Distal renal tubular acidosis as a cause of osteomalacia in a patient with primary Sjögren's syndrome

BACKGROUND: One half of the patients with primary Sj?gren's syndrome has extraglandular manifestations, including renal involvement. The most frequent renal lesion is tubulo-interstitial nephritis, which manifests clinically as distal tubular acidosis and may result in the development of osteomalacia. CASE REPORT: In a 29-year-old female patient, with bilateral nephrolithiasis, the diagnosis of primary Sj?gren's syndrome, tubulo-interstitial nephritis, distal renal tubular acidosis, and hypokalemia were established. She was treated for hypokalemia. Two years later she developed bone pains and muscle weakness, she wasn't able to walk, her proximal muscles and pelvic bones were painful, with radiological signs of pelvic bones osteopenia and pubic bones fractures. The diagnosis of osteomalacia was established and the treatment started with Schol's solution, vitamin D and calcium. In the following two months, acidosis was corrected, and the patient started walking. CONCLUSION: In our patient with primary Sj?gren's syndrome and interstitial nephritis, osteomalacia was a result of the long time decompensate acidosis, so the correction of acidosis, and the supplementation of vitamin D and calcium were the integral part of the therapy.     

Hyperechoic renal medullary pyramids in infants and children

Fifty-five children (34 boys, 21 girls; age range, 1 day to 18 years) with increased echogenicity of the renal medullary pyramids at ultrasound evaluation were identified. The clinical diagnoses associated with hyperechoic medullary pyramids could be separated based on the presence or absence of hypercalciuria. Patients with drug-induced hypercalciuria included 10 infants treated with furosemide, two treated with long-term steroid therapy, and one treated with excessive amounts of vitamin D. Other clinical conditions associated with hypercalciuria included renal tubular acidosis (n = 10), Bartter syndrome (n = 5), hyperparathyroidism (n = 3), Williams syndrome (n = 2) and medullary sponge kidney (n = 2). Ten children with transient renal insufficiency and three with sickle cell disease had normal urine calcium concentration. Isolated disease entities accounted for the remainder of cases. A specific diagnosis can usually be made in a patient with hyperechoic renal medullary pyramids by using a systematic clinical approach that includes evaluation of patient age, serum and urine calcium concentration, and renal function.     

甲亢性低血钾型周期性麻痹家系基因突变的初步研究

目的筛查甲亢性低血钾型周期性麻痹家系的钙离子通道α1亚基和电压门控钠离子通道α亚基基因是否存在突变。方法总结甲亢性低血钾型周期性家系Ⅵ代患者的临床特点,并应用酶联免疫测定和测序技术筛查编码钙离子通道α1亚基的528位及1239位精氨酸和钠离子通道α亚基669位及672位精氨酸基因的突变点。结果钠离子通道α亚基基因2012位碱基序列发生错义突变（T→C）,671位苯丙氨酸变为丝氨酸,而其他3个已知突变点的碱基序列完全正常。结论华人甲亢性低血钾型周期性麻痹家系患者中存在突变,致使钠离子通道α亚基基因671位苯丙氨酸为丝氨酸替代,该位点国内外未见报道,是一个新的突变位点。     

Osteopetrosis: some unusual radiological features with a short review

The radiological features of 27 cases of osteopetrosis were analysed retrospectively. The common features of generalized sclerosis of bones; with metaphyses showing characteristic widening, multiple transverse striations, cortical thickening and medullary calcifications as well as fractures, are seen in most cases. In addition to these changes, a number of rare features of osteopetrosis are seen, viz: medial and symmetrical metaphyseal cortical defects in the long bones (5 cases), excessive diaphyseal radiodense periosteal new bone formation (5 cases), bone-in-bone appearances (5 cases), and the presence of intracerebral and meningeal calcifications in 7 cases. The significance of these intracranial calcifications as a component of a particular autosomal recessive syndrome in which renal tubular acidosis and carbonic anhydrase II deficiency may co-exist, is discussed.     

超声对小儿肾钙质沉着症的诊断价值

目的探讨超声对小儿钙质沉着的诊断价值。方法回顾性分析1986年1月～2009年10月超声检查诊断肾钙质沉着56例,与临床资料之间对比分析。结果 56例钙质沉着的病例中,30例临床诊断为肾小管酸中毒;5例肾脏结石;4例为VitD中毒;3例为急性肾炎;甲状旁腺功能亢进及假性甲状旁腺功能减低各1例;12例病因不明确。结论超声能发现小儿肾钙质沉着症,为临床诊断提供依据。     

Ultrasonographic contrast-enhanced study of sicca syndrome

Objective:To assess the ability of US contrast-enhanced time–intensity curves to depict the changes connected with sicca syndrome, a fairly common condition that is often associated with autoimmune disorders such as Sjogren's syndrome or other diseases. Diagnostic criteria are complex and controversial and although no single test can be considered the gold standard, salivary gland scintigraphy and biopsy are reliable diagnostic methods.Materials and methods:Sixty consecutive patients with sicca syndrome, 40 of whom had primary (n = 23) or secondary (n = 17) Sjogren's syndrome and 20 had non-Sjogren's sicca syndrome, selected according to European Community Study Group diagnostic criteria for Sjogren's syndrome and subjected to contrast-enhanced US imaging of the parotids using a second-generation contrast agent with analysis of time–intensity curves at rest and during salivary stimulation, Tc99m salivary gland scintigraphy and labial gland biopsy.Results:In the 40 Sjogren's patients, US enhancement values were significantly lower (P < 0.0001 and P < 0.00003, respectively) than in the 20 non-Sjogren's patients both at rest and during stimulation. In the 23 subjects with the primary syndrome, values during stimulation were significantly lower than in the 17 subjects with the secondary syndrome (P < 0.0006), whereas at rest differences were not significant. Contrast-enhanced US imaging allowed to discriminate Sjogren's from non-Sjogren's sicca patients with 87.5% sensitivity, 85% specificity and 86.7% accuracy and the primary from the secondary syndrome with 78.2% sensitivity, 70.5% specificity and 75% accuracy. Interestingly, in eight patients with the primary syndrome, i.e. those with the more severe gland involvement, enhancement values were lower during stimulation than at rest.Conclusion:Preliminary results indicate that contrast-enhanced US imaging can provide useful information on sicca characterisation and severity.     

甲亢合并周期性麻痹临床特点

目的：探讨甲亢合并周期性麻痹的临床特点。方法：回顾性分析14例甲亢合并周期性麻痹的临床资料。结果：男性13例，女性1例。发作时均有不同程度的双下肢或四肢软瘫，14例均伴有低血钾，同时FT3、FT4增高，FSH降低。结论：抗甲状腺治疗是控制甲亢周期性麻痹复发的关键，补钾可迅速改善症状，男性，明显多于女性。     

急性脑血管意外后深静脉血栓形成(附18例报告)

目的：对急性脑血管意外后并发的深静脉血栓进行临床分析，加深对此病的认识。方法：对18例急性脑血管意外后深静脉血栓形成患者的原始资料进行回顾性分析。结果：同期脑卒中病人并发有症状的深静脉血栓的发生率为4．3％；原发病为脑栓塞9例，脑血栓形成5例，脑出血3例，蛛网膜下腔出血1例；伴发疾病中糖尿病和心房纤颤常见；继发肺栓塞5例，3例死亡。结论：深静脉血栓易致急性肺栓塞，死亡率很高，且易漏诊，应对高龄的、卧床的有深静脉血栓形成倾向的脑卒中病人给予必要的预防。     

An eleven year old boy with pain abdomen and early morning neuroparalytic syndrome

An 11 year old boy presented with pain abdomen and tenderness all over body when he got up from sleep early in the morning and subsequently had one vomiting after 30 min. He had no other significant past medical history. The child was shifted to nearby health facility where he was managed as a case of acute abdomen on the basis of suggestive history and clinical findings. Within 2 h after the onset of clinical features suggestive of acute abdomen the patient went on to develop marked ptosis and flaccid quadriplegia. The young boy underwent a sequence of clinical tests which were noncontributory. Based on the clinical picture, a differential diagnosis of hypokalemic paralysis, botulism, Miller Fischer syndrome and EMNS were considered. Through exclusion, the most probable diagnosis for the symptoms was elapid envenomation hence he was started on anti-snake venom (ASV) with working diagnosis of EMNS. Within 2 h, he began to show improvement. This recovery with ASV suggests the possibility of elapid envenomation.     

Open quiz-solution: Case report 668

A 4-month-old infant with bronchiolitis was found to have hyperdense bones on chest roentgenograms. The diagnosis of osteopetrosis was demonstrated by generalized increased radiological bone density and by a bone biopsy showing persistence of calcified cartilage. The infant also had a mixed proximal and distal renal tubular acidosis requiring as much as 12 mEq/kg per day of sodium bicarbonate. Measurement of his erythrocyte carbonic anhydrase activity revealed a deficiency of CA II. His parents showed values of CA activity that were intermediate between controls and the proband. Thus, this is a patient with the CA II deficiency syndrome; he is the youngest reported case without any family history of osteopetrosis to be diagnosed initially on the basis of his radiographic features.