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肾脏发育不全的CT诊断(附8例分析)

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医学影像学杂志 1994年第3期4卷 145-146,185页

作者：周茂义魏道芹王滨李丽新赵炳辉郑明杰王琪潍坊医学院附属医院胶州解放军135医院CT室

肾脏发育不全是较少见的先天性发育异常,以往由于检查方法的限制,临床上多难予诊断。随着B超、CT和MR的广泛应用,本病发现率明显增多。本文报告由CT诊断肾发育不全8例,并对其CT诊断价值予以探讨。

关键词：肾脏发育不全 CT诊断先天性发育异常发现率肾发育不全静脉尿路造影肾盂积水双肾盂肾梗塞肾皮质

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合并有阴道隔膜、双角子宫及同侧肾脏发育不全患者的治疗和预后

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世界核心医学期刊文摘（儿科学分册） 2006年第A10期2卷 44-44页

作者： Gholoum S. Puligandla P.S. 李丹 Puligandla Division of Pediatric Surgery The Montreal Children' s Hospital Montreal Que. H3H 1P3 Canada.

Objective: Herlyn- Werner- Wunderlich syndrome (HWWS)- is a rare mü llerian anomaly consisting of uterine didelphy, hemivaginal septum, and ipsilateral renal agenesis. The purpose of this study was to evaluate the natural history and outcome of patients with HWWS. Methods: With ethics review board approval, all patients with uterine/- vaginal anomalies were reviewed between 1982 and 2004. Patients with cloacal and/or anorectal anomalies were excluded. Presenting symptoms, preoperative investigations, operative management, and long- term follow- up were assessed. Results: Of 80 patients identified with uterine/vaginal anomalies, 12 had HWWS. Median age at presentation was 13 years. Most patients (11/12) in this series presented with either abdominal pain and/or pelvic masses. Two patients had intra- abdominal abscesses. Seven patients were menstruating at presentation with 4 of these patients having dysmenorrhea. Symptom duration ranged from 0.5 to 12 months. Diagnosis was confirmed by ultrasound (n = 11), computed tomographic scan (n = 3), and/or magnetic resonance imaging (n = 2). Operative management included vaginal septectomy and drainage of the hematocolpos/ hematometrocolpos. One patient required salpingectomy for pyosalpinx. Follow- up ultrasounds revealed no recurrent collections. Median follow- up was 3 years (2 months to 16 years). Eleven patients were asymptomatic after treatment. One patient complained of irregular menses. Conclusion: This is one of the largest reviews of HWWS in pediatric patients to date. Good long- term outcome occurs after vaginal septectomy. This diagnosis should be suspected in females with a pelvic mass and ipsilateral renal agenesis.

关键词：阴道隔膜肾脏发育不全双角子宫阴道积血肛门直肠畸形输卵管切除术月经不规则痛经史盆腔包块

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多发性内分泌腺瘤病2A型一例报告并文献复习

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中华泌尿外科杂志 2014年第5期35卷 321-325页

作者：王海东李贵忠王建伟刘宁何峰王海黄广林邓薇兰玲左庆瑶张国英满立波北京积水潭医院泌尿外科 100035

目的报告1例多发性内分泌腺瘤病2A型（multiple endocrine neoplasia type 2A,MEN 2A）患者的资料,并进行相关文献复习,提高对该病的认识及诊治水平. 方法回顾性分析2011年8月22日我院收治的1例MEN 2A患者的资料,女,38岁.因头痛、心... 详细信息

目的报告1例多发性内分泌腺瘤病2A型（multiple endocrine neoplasia type 2A,MEN 2A）患者的资料,并进行相关文献复习,提高对该病的认识及诊治水平. 方法回顾性分析2011年8月22日我院收治的1例MEN 2A患者的资料,女,38岁.因头痛、心悸、出汗,CT检查发现肾上腺肿物1个月入院.查体：血压200/100 mmHg（1 mmHg=0.133 kPa）,甲状腺两侧叶可触及多个质硬结节,腹部未触及肿物.去甲肾上腺素4.09 nmol/L,肾上腺素0.54 nmol/L,多巴胺0.53 nmol/L,甲状旁腺激素216.7 ng/L.腹部超声检查：左肾上腺区可见一直径约9.0 cm囊实性肿物,边界尚清,囊内有分隔,偏实性成分内无明显血流信号.腹部CT检查：左肾上腺区可见一直径约8.5 cm类圆形囊实性占位,左肾约2 cm×1 cm,强化明显,考虑左肾发育不全.131Ⅰ-间碘苄胍核素显像检查：左肾上腺区有异常放射性聚集,考虑为嗜铬细胞瘤.颈部超声检查：甲状腺两侧叶实性低回声肿物,血流丰富,甲状腺癌可能性大;甲状腺左叶下极背侧实性低回声肿物,甲状旁腺来源可能性大.颈部CT检查：甲状腺两侧叶可见多个均匀低密度实质性占位,增强扫描后病灶轻度不均匀强化,双侧未见淋巴结肿大.术前诊断：左肾上腺嗜铬细胞瘤,双侧甲状腺髓样癌,甲状旁腺增生,左肾发育不全.全麻下行腹腔镜下经腹腔途径左肾上腺切除术.术中分离肿瘤时,患者血压波动较大,收缩压波动范围80～230 mmHg.予对症处理后,完整切除肿瘤. 结果手术时间130 min,出血量50 ml.术后病理检查：肿瘤直径约8.5 cm,有1个明确的包囊,剖面见肿瘤内液化坏死.镜下观察见左肾上腺细胞呈巢团状增生,细胞有中度异形性,免疫组化染色检查：CD34（-）,CK（-）,嗜铬粒蛋白A（＋）,Ki-67＜5％（＋）,神经元特异性烯醇化酶（＋）,S-100（＋）,突触素（＋）,波形蛋白（＋）,Melan-A灶状（＋）.病理诊断：嗜铬细胞瘤.术后第2天,患者血压降至110/70 mmHg.术后1周复查去甲肾上腺素水平降至正常.术后1个月,全麻下行甲状腺全切术＋颈淋巴结清扫术＋甲状旁腺切除术.术后病理诊断为甲状腺髓样癌,淋巴结可见癌转移（1/6）,甲状旁腺腺瘤样增生.术后给予甲状腺素替代及补钙治疗.基因分析：患者及其子女的RET原癌基因634密码子（外显子11）发生TGC→CGC突变.随访1年,患者血压正常,肿瘤未见复发. 结论对于嗜铬细胞瘤伴甲状腺髓样癌及甲状旁腺增生/腺瘤的患者,应考虑有MEN2A的可能,基因检测可明确诊断,早期行手术治疗.

关键词：多发性内分泌腺瘤病2A型 RET原癌基因嗜铬细胞瘤甲状腺髓样癌肾脏发育不全

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