特发性椎管内硬膜外脂肪增多症1例并文献复习

<正>椎管内硬膜外脂肪增多症(spinal epidural lipomatosis,SEL)是一种少见的椎管内占位性病变,其常与原发性Cushing综合征或其他疾病长期大量使用糖皮质激素有关,也可发生于单纯肥胖患者,若发生于无Cushing综合征且无糖皮质激素服用史者,则称为特发性SEL,临床多数在腰椎段发生。作者遇到1例特发性SEL,现报告如下。     

特发性醛固酮增多症的手术治疗

特发性醛固酮增多症 (ｉｄｉｏｐａｔｈｉｃｈｙ ｐｅｒａｌｄｏｓｔｅｒｏｎｉｓｍ ,ＩＨＡ)是原发性醛固酮增多症 (ｐｒｉｍａｒｙａｌｄｏｓｔｅｒｏｎｉｓｍ ,ＰＡ)中的一种 ,所占比例要比醛固酮瘤 (ａｌｄｏｓｔｅｒｏｎｅｐｒｏｄｕｃｉｎｇａｄｅｎｏｍａ ,ＡＰＡ)少。基本的治疗方法是药物控制 ,而手术治疗从理论上看是不理想的。我院 1994～ 1998年经手术治疗的 2 8例ＩＨＡ ,结合随访结果和有关文献作一讨论。1.临床资料 :本组男 13例 ,女 15例。年龄 18～ 6 8岁 ,平均 43 1岁。病程从 3个月～ 30年 ,平均 43个月。高血压2 7例 ,…     

外科病人合并醛固酮增多症1例分析

１病历简介病人女,４０岁。因骶尾部肿物伴左下肢麻木、无力、放射性疼痛及近半年夜尿多入院。１０年前行骶尾部肿瘤切除术,术中曾发生不明原因的心脏骤停,抢救复苏成功后完成手术,术后病理为骶尾部畸胎瘤恶性变。３年前因肿瘤复发第二次入院治疗。术前检查发现高血压...     

盆腔脂肪增多症合并左侧重复肾畸形1例诊治报告并文献复习

目的:提高盆腔脂肪增多症(PL)的诊断及治疗水平。方法:对1例PL合并左侧重复肾畸形的临床诊治过程进行回顾性分析,并结合相关文献对PL的诊断及治疗进行探讨。结果:患者于治疗6个月后体重减轻10kg,尿路刺激症状较治疗前明显好转,肌酐正常范围内,左侧腰背部无明显酸胀不适,第1、3、6个月门诊复查,泌尿B超示左下肾仍有积水但随体重的降低积水程度逐渐减轻。结论:X线、CT及MRI为此病的主要诊断线索及依据,但治疗上尚无统一规范化指南,尚需更多的前瞻性随机对照研究和多中心大宗病例规范治疗方案。     

真性红细胞增多症并广泛性脾梗死1例

真性红细胞增多症是一种骨髓干细胞异常增生性疾病，临床易误诊，我科收治1例，现报告如下：     

真性红细胞增多症并广泛性脾梗死1例

真性红细胞增多症是一种骨髓干细胞异常增生性疾病,临床易误诊,我科收治1例,现报告如下:1临床资料患者男性,39岁,长期从事房屋装修,接触有机溶剂及有害气体,因发现左上腹胀痛伴肋下肿块逐渐增大及消瘦20余天,于2004年10月19日入院。查体:血压正常,皮肤黏膜红紫,面颊、唇、舌、鼻尖绛红色,脾大,下极平脐,质硬,无触痛。RBC 7.35×1012/L,HCT 69.1%,Hb 232g/L,PLT 257×109/L,WBC 14.4×109/L,PPT 18 s,ALP298.3 U/L,-γGT 177.4 U/L,AST 53.8 U/L,LDH 404.2U/L。食道钡餐无异常。彩色B超提示:门静脉增宽,脾脏巨大,内见多个大…     

特发性嗜酸性粒细胞增多症累及周围血管治疗体会

目的总结特发性嗜酸性粒细胞增多症（IHES）累及周围血管的围手术期处理及抗凝治疗经验。方法回顾性分析3例IHES患者的临床特点及诊治体会。结果本组共3例,1例为下肢深静脉血栓形成,2例为周围动脉阻塞性病变。针对不同的受累血管,分别给予溶栓、支架植入、取栓等治疗,续以抗凝治疗,均取得了良好的治疗效果。结论IHES极少见,累及周围血管的更少。当其累及周围血管时,需根据具体受累血管和病史来制定治疗方案。同时,控制原发疾病和抗凝治疗是必需的。     

特发性嗜酸性粒细胞增多症致肾损害一例

特发性嗜酸性粒细胞增多症(idiopathic hypereosinophilic syndrome,HES)是一种少见的、原因不明的,以血象中嗜酸性粒细胞(EC)增高,伴多脏器浸润及功能不良的综合征。我科收治了1例HES患者以高血压和肾脏损害为首发症状,现报告如下。 男性,37岁,因"高血压2年,全身瘙痒1年,尿蛋白2个月,眼睑及双下肢水肿20 d"入院。患者2年前体检时发现高血压,1年前在外院诊断为"高血压病",同时出现全身皮肤瘙痒。3个月前发现     

特发性阴囊钙沉积症1例报告

患者男,53岁,住院号:923041。以发现阴囊无痛性皮肤肿块16年入院。患者16年前开始发现阴囊皮肤肿块,因其体积小且无任何临床症状,未予重视。近年来肿块呈进行性增大,数量增多,无痛痒感,自服抗生素无明显好转。既往无家族遗传     

特发性高钙尿与骨质疏松的研究进展

特发性高钙尿症(idiopathic hypercalciuria,IH)主要有两大危害,一则影响骨代谢,容易引起骨量减少、骨质疏松,增加骨折风险;二则影响泌尿系统,主要表现为增加患肾结石风险。高钙尿引起骨质疏松及肾结石的具体机制尚不明确。现有的研究表明核因子κB受体活化因子配体(RANKL)/核因子κB受体活化因子(RANK)/护骨素(OPG)通路激活可能是IH患者引起骨质疏松的主要机制之一。雌激素缺乏会引起尿钙升高、骨量减少,是高钙尿及骨质疏松的重要病因。高钙尿症还可能通过单核细胞趋化因子-1(MCP-1)等细胞因子的增加从而引起骨量减少。对遗传因素的研究中发现了许多与高钙尿及骨量减少相关联的基因,主要包括降钙素受体基因、瞬时感受器电位阳离子通道香草精受体5基因、维生素D受体基因。但对上述一些基因型与骨质疏松的研究存在不同的结论,而雌激素缺乏还可通过影响瞬时感受器电位阳离子通道香草精受体5基因的表达起作用,因此遗传因素可能成为未来研究的热点。     

Bone mineral density in pediatric patients with idiopathic hypercalciuria

It is well known that some patients with renal lithiasis due to idiopathic hypercalciuria (IH) may exhibit decreased bone mineral density (BMD). We have studied a large group of children with IH and related their BMD values to several renal function parameters and calcium and bone metabolism markers. Children with IH had higher osteocalcin and calcitriol levels and higher urinary excretion of magnesium and prostaglandin E₂, as well as lower tubular reabsorption of phosphate, urinary excretion of ammonium, maximum urinary PCO₂, and BMD compared with control group of children. In children with IH we observed a negative correlation between BMD and age. We found osteopenia in 22 of 73 children with IH (30.1%); these children showed lower citraturia levels and higher fractional excretion of uric acid than children with normal BMD. In osteopenic children there was a negative correlation between BMD and calcitriol levels. Several possible pathogenetic factors have been proposed for the bone mass loss. Our results demonstrate that, at least in some cases, it may be related to high levels of calcitriol, which has a well-known resorption ability. Whether a certain degree of intracellular acidosis or a higher production of prostaglandin E₂ could play a role in some cases is still an open question. In children with normal BMD we observed a direct correlation between osteocalcin and tartrate-resistant acid phosphatase levels; this correlation did not hold for children with osteopenia. Received February 7, 1996; received in revised form and accepted March 25, 1997     

降钙素受体基因多态性与特发性高钙尿症的相关性研究

目的了解降钙素受体（CTR）基因单核苷酸多态性与特发性高钙尿症的关系，探讨特发性高钙尿的发病机理。方法提取湖北地区76例汉族特发性高钙尿患者及126例健康对照者外周血标本基因组DNA，应用聚合酶链反应-限制性片段长度多态性方法检测并分析CTR基因核苷酸序列1377位点C／T单核苷酸多态性分布。结果2组标本CTR基因C／T多态性位点等位基因频率分布均符合Hardy-Weinberg定律，患者组CC、TC、TT基因型分布频率分别为73．7％、17．1％、9．2％，对照组分别为89．7％、9．5％、0．8％；2组等位基因c、T分布频率分别为84．2％、15．8％和94．4％、5．6％，患者组等位基因T和TT基因型分布频率高于对照组，而等位基因C和CC基因型的分布频率低于对照组，差异有统计学意义（P〈0．05）。结论CTR基因1377多态性位点C／T单核苷酸多态性在湖北地区汉族人群特发性高钙尿的发生中起重要作用。     

Parathyroid hormone is normal in renal stone patients with idiopathic hypercalciuria and high fasting urinary calcium

Summary In a group of patients with idiopathic hypercalciuria and an increased fasting urinary calcium excretion we re-examined the question: does secondary hyperparathyroididsm exist? Eight out of 51 patients with calcium renal stones had a high calcium excretion in both fasting and in 24 h urines. The carboxyl-terminal immunoreactive PTH (iPTH) values in these patients were 16±5 ngeq/ml (M±SD), no higher than the iPTH values in the other groups, e.g. normocalciuric patients had an iPTH of 23±8 ngeq/ml. The existence of secondary hyperparathyroidism in a subgroup of stone patients with increased fasting urinary calcium excretion is questionable.Supported by the DFG (Li 253/3, 5)     

Impaired bone formation in male idiopathic osteoporosis: Further reduction in the presence of concomitant hypercalciuria

We present iliac bone histomorphometric data and related biochemical data from 16 nonalcoholic men (50±11 (SD) years) referred for evaluation of spontaneous skeletal and/or appendicular fractures and reduced spinal bone density. All men were eugonadal and had no known underlying disorder associated with osteopenia. For the group, mean serum chemistry values were within normal limits including immunoreactive parathyroid hormone, osteocalcin and serum 1,25-dihydroxyvitamin D [1,25(OH)₂D]. Nine men demonstrated hypercalciuria (0.1 mmol/kg per day) while on a constant metabolic diet of 20 mmol/day Ca. Their 24-hour urinary calcium was significantly greater than that for the remaining 7 men (7.4±1.6 vs. 5.0±0.8 mmol/day,p=0.003), as was their calciuric response to a 1 g oral calcium load (0.23±0.06 vs. 0.15±0.05 Ca/creatinine,p=0.042). Serum parameters (including parathyroid hormone and 1,25(OH)₂D) of hypercal-ciuric and normocalciuric men were not significantly different. Histomorphometric indices for cancellous bone demonstrated significant differences between the entire group of osteoporotic men and age-adjusted normal values for bone volume (11.4±4.0% vs. 23.2±4.4%), osteoid surface (5.6±3.9% vs. 12.1±4.6%), osteoblastic surface (2.0±2.3% vs. 3.9±1.9%), and mineralizing surface (1.9±2.4% vs. 5.1±2.7%);there were also significant differences in bone formation rate (total surface referent) (0.004±0.001 vs. 0.011±0.006 mm³/mm² per year). Compared with the normocalciuric group the 9 hypercalciuric men had significantly lower osteoblastic surfaces (1.6±1.9% vs. 2.5±2.6%) and mineralizing surfaces (1.4±1.5% vs. 2.7±3.2%). Cortical bone indices demonstrated a similar trend in formation parameters although these differences did not reach significance. These results suggest that idiopathic osteoporosis in men is characterized by suppressed bone formation due to reduced osteoblast proliferation and that this defect is exaggerated in hypercalciuric men as opposed to normocalciuric men. The cause for suppressed bone formation and increased intestinal absorption of calcium in some men is not known but may be the result of 1,25(OH)₂D or some previously unrecognized factor(s).     

Nephrocalcinosis in three siblings with idiopathic hypercalciuria

Idiopathic hypercalciuria (IH) associated with nephrocalcinosis was found in three of six siblings. After the three affected children were maintained on a low-calcium diet, they demonstrated increasing hypercalciuria, parathyroid hormone, and vitamin D₃ levels. An oral calcium loading test was not necessary to diagnose renal IH. During treatment with hydrochlorothiazide, the calcium excretion was normalized. These patients are remarkable because nephrocalcinosis is generally regarded as a rare complication of renal IH. Moreover, the fact that three of six siblings are affected raises the question of whether the renal form of IH is genetically distinct from other forms of IH. Received January 3, 1997; received in revised form July 23, 1997; accepted July 30, 1997     

特发性青少年骨质疏松症

特发性青少年骨质疏松症(idiopathic juvenile osteoporosis,IJO)是一种罕见的发生于先前身体健康的儿童身上的一种病因不明的主要表现为骨质疏松症的疾病。该病以反复发生的骨折为特征,包括脊椎压缩性骨折。它通常是一种自限性疾病,在青春期之后自然缓解。但在某些情况下可导致严重的畸形和功能障碍。IJO的病因和发病机制可能有下列几方面的原因：1.骨形成和骨吸收平衡被打破;2.青春期生长突增和骨量增加;3.骨代谢调节因素失常;4.胶原合成异常。IJO常急性起病,通常病程2-4年,在发病期间会出现生长停止和多发骨折,随后疾病自然缓解。中轴骨和四肢骨均可受累。严重的病例轻微外伤后即可出现脊椎骨和长骨的多发骨折,尤其是干骺端易发生骨折,常常导致背痛、足及髋部疼痛、四肢骨痛、肌力下降、自由运动受限、畸形和行走困难导致的独特步态。IJO的诊断需具备其自身的阳性特征并且同时排除其它任何可能引起骨质疏松症的疾病。IJO的诊断应基于其X线的特征,主要包括多发性的脊椎压缩性骨折和长骨骨折,尤其是在承重关节附近。IJO 的治疗十分复杂。最基本的治疗策略是保护脊柱、避免骨折和畸形发生直至疾病自然缓解。对于预料之中可以自发缓解的青春期发病的IJO患者应立即采取支持性疗法。     

妊娠哺乳相关骨质疏松症1例分析及文献回顾

目的探讨妊娠哺乳相关骨质疏松症(PLO)的临床特点及诊治。方法围绕1例妊娠哺乳相关骨质疏松症的临床资料进行回顾性分析。结果本例患者在妊娠哺乳期出现骨痛、活动受限、胸腰椎多椎体压缩性骨折、骨密度明显降低等骨质疏松症表现。并在确诊前进行了充分的代谢性骨病的鉴别诊断。停止哺乳,予以钙剂、活性维生素D疗效良好。结论 PLO可能具备多种易患因素,在妊娠哺乳期出现的腰背痛应考虑本病可能,需引起临床医生的重视,但充分的鉴别诊断是确诊该病的前提。     

特发性肉芽肿性乳腺炎磁共振误诊1例分析并文献回顾

【摘要】 目的 提高对特发性肉芽肿性乳腺炎(IGM)临床以及磁共振表现的认识,避免对该病的误诊。方法 报告我院1例术前磁共振误诊的特发性肉芽肿性乳腺炎的临床表现、辅助检查结果及超声、磁共振表现,并结合文献进行复习,分析误诊原因。结果 入院后对患者进行血常规、超声、磁共振等检查后,行乳腺病灶区段切除术,术后恢复良好。结论 特发性肉芽肿性乳腺炎术前磁共振诊断较难,但其磁共振表现仍有一定特异性,若出现相应征象,应考虑到该病可能,将有助于患者的治疗。     

Superimposition of nutcracker syndrome in a hematuric child with idiopathic hypercalciuria and urolithiasis

We report a 5-year-old girl with idiopathic hypercalciuria who developed gross hematuria and left flank pain despite normalization of calciuria, a renal stone, and microscopic hematuria. She was found to have nutcracker syndrome by renal Doppler ultrasound, which revealed the significant differences of the peak blood flow velocities in the two portions of the left renal vein.