肾上腺骨髓脂肪瘤

肾上腺骨髓脂肪瘤谭一伟，罗杰（泌尿外科病理科）肾上腺骨髓脂肪瘤也称髓样脂肪瘤、髓性脂肪瘤（亦称髓脂瘤）。是一种较为少见的肾上腺良性肿瘤。１９０５年Ｇｉｅｒｋｅ首次报道；１９２９年Ｏｂｏｒｌｉｎｇ按胖瘤组织成分将其命名为骨髓髓脂肪瘤。文献报道大约有２５...     

婴儿先天性肾上腺皮质增生症的影像学改变(附3例报告)

目的 提高对婴儿先天性肾上腺皮质增生症的认识。方法 3例确诊为先天性肾上腺皮质增生症的婴儿。均行影像学检查，结合文献讨论发病机制、临床表现、影像学改变。结果 3例患儿均见肾上腺带样增粗增大，密度均匀，1例似见结节样改变，CT增强可见明显强化。MR信号与肝、脾信号区别明显而易于辨别。结论 先天性肾上腺皮质增生症影像学上可见到肾上腺明显增大，结合临床病史、实验室检查可以确定诊断，为临床诊治该病提供更多信息。     

肾上腺髓质脂肪瘤：附2例3侧报告及文献复习

肾上腺髓质脂肪瘤是一种临床上极少见的无功能良性肿瘤。电子技术的发达，促进了医学诊断水平的提高，使病变部位十分隐蔽的肾上腺占位病变较前易于发现。迄今国外文献记载本病250例左右。国内自1982年肖湘鄂报道1例后，至今公开报道已累计47例，其中45例是近5年发现的。我院1990—1992年收治2例，其中1例为双侧巨大髓脂瘤，更属罕见。结合文献复习报告如下。     

肾上腺髓脂瘤的诊断与治疗(附18例报告)

目的提高肾上腺髓脂瘤的诊治水平.方法回顾性分析18例肾上腺髓脂瘤的临床资料.10例有腰背部疼痛症状,3例出现腹部包块.除2例肾上腺髓脂瘤破裂出血者误诊为肾错构瘤外,其余16例经CT或MRI确诊.结果¨例行肾上腺肿瘤切除术,其中3例行后腹腔镜手术,术后均病理证实为肾上腺髓脂瘤.4例未手术.结论肾上腺髓脂瘤诊断需靠CT或MRI检查.所有病例均应行肾上腺内分泌功能检测.对直径小于4 cm的无功能肿瘤可随访观察,对直径大于4 cm的肿瘤均应手术切除.后腹腔镜手术是一种较好的选择,但对巨大髓脂瘤或髓脂瘤急性出血仍应行开放手术.     

肾上腺巨大髓脂瘤CT诊断（附3份病例）

左肾上腺区域巨大混杂密度的肿块;结果：肾上腺髓脂瘤是无功能性肾上腺良性肿瘤。     

肾上腺髓性脂肪瘤

１　临床资料　自１９９３年至１９９８年我院收治肾上腺髓性脂肪瘤８例,男３例,女５例。年龄：３４～６３岁。有高血压病史者４例。４例因腰背部胀痛不适ＣＴ检查发现,其余均为检查其他疾病或体检时经ＣＴ或Ｂ超检查偶然发现。术前ＣＴ明确诊断为肾上腺髓脂瘤２例;ＭＲＩ明确诊断４例。肿瘤最大的为７．３ｃｍ×７．０ｃｍ×６．０ｃｍ,其中２例为同侧２个肿瘤。本组８例均行肿瘤切除,病理报告为肾上腺髓性脂肪瘤。２　讨论　肾上腺髓性脂肪瘤是一种临床上罕见的无内分泌功能的肾上腺良性肿瘤。有关肾上腺髓脂瘤的发病机制有以作者单…     

成人肾上腺肿瘤的CT诊断与鉴别诊断

目的:探讨成人肾上腺肿瘤性病变的CT特点,以提高诊断与鉴别诊断的能力。方法:回顾性分析经手术病理或临床证实的74例成人肾上腺肿瘤性病变的CT表现。结果:肾上腺良性肿瘤39例,其中肾上腺腺瘤18例,良性嗜铬细胞瘤3例,肾上腺囊肿7例,肾上腺节细胞神经瘤3例,肾上腺髓脂瘤6例,肾上腺神经鞘瘤2例;恶性肿瘤35例,其中肾上腺皮质癌2例,肾上腺转移瘤31例,恶性嗜铬细胞瘤2例。结论:CT平扫及增强能较好地显示肾上腺肿瘤性病变的内部结构和影像学特点,反映病变的血供情况和病理特征,有助于肾上腺肿瘤的诊断与鉴别诊断。     

先天性肾上腺皮质增生症之21-羟化酶缺乏症2例误诊分析

目的分析先天性肾上腺皮质增生症误诊的原因，提高诊断的准确率，以免贻误治疗时机。方法对2006年4月，2007年5月我科分别收治的先天性肾上腺皮质增生症进行回顾性分析，分析误症的原因。结果两例均为肾上腺皮质增生症之21-羟化酶缺乏症失盐型。其临床表现均有顽固性水电解质紊乱，难以纠正。结论先天性肾上腺皮质增生症之21-羟化酶缺乏症失盐型容易误诊。     

肾上腺肿瘤的影像学表现与病理对照分析

目的：探讨肾上腺肿瘤影像学表现的病理基础及在诊断中的价值。方法：总结71例肾上腺肿瘤患者的临床资料，对照分析肾上腺肿瘤的影像学表现与病理类型间的关系。结果：手术治疗63例，术后病理：嗜铬细胞瘤20例，皮质腺瘤27例，皮质腺癌5例，髓性脂肪瘤4例，囊肿5例，节细胞神经纤维瘤2例。转移癌3例经临床随访证实。嗜铬细胞瘤、皮质腺瘤、髓性脂肪瘤和囊肿的B超、CT及MRI的影像学改变各有其特点。结论：综合分析多种检查的影像学特点对判定肾上腺肿瘤的病理类型有一定的帮助。     

肾上腺骨髓脂肪瘤的诊治

目的探讨肾上腺骨髓脂肪瘤的诊断和治疗。方法对１９８８～１９９８年收治的１５例髓脂脑瘤病例进行回顾性分析。 结果肾上腺骨髓脂肪瘤为无功能的良性肿瘤，瘤体增大或其内部有出血时可产生症状，多为腰部或上腹部胀痛感；ＣＴ 示肾上腺区近水样、脂肪密度或低密度实性肿瘤，Ｂ超示边界清楚的强回声或低回声肿块；病理示瘤组织由脂肪和骨髓 组织构成，骨髓组织为多少不等的原始或不同成熟程度的髓细胞和各种血细胞。１２例行１１肋间切口，３例行１２肋缘上 切口手术治疗。结论 ＣＴ和Ｂ超检查可为髓脂脑瘤的诊断提供可靠依据；手术治疗是最佳治疗方法，常用１１肋间切 口，而以肋缘上切口为好。     

Bilateral adrenal myelolipomas with Cushing's syndrome

A 24-year-old woman with non-pituitary dependent Cushing's syndrome was found to have bilateral adrenal myelolipomas at surgery. These benign tumors consist of bone marrow and fat and are uncommon incidental findings that are discovered by computed tomography. Myelolipomas have rarely been associated with Cushing's syndrome, but the cause of the syndrome has not always been defined, because the reports preceded modern diagnostic methods. Careful examination of the adrenal glands from our patient showed a fusion of myelolipoma elements and adrenal cells without distinct adenomas or the typical nodular pattern of adrenal hyperplasia. This report suggests that adrenal myelolipomas and atypical hyperplasia of the zona fasciculata may be anatomically and functionally related.     

11β-羟化酶缺陷症临床和基因型分析

目的 分析2例11β-羟化酶缺陷症(11β-OHD)患者的临床特点及分子遗传学诊断.方法 收集2例患者临床、基础激素测定和影像学检查资料,并采用PCR产物直接测序方法明确CYP11B1基因突变 结果 2例患者分别因“青少年高血压伴肾上腺肿瘤”和“先天性尿道下裂伴高血压17年、周期性血尿3个月”入院;激素测定示:促肾上腺皮质激素、17-羟孕酮、11-去氧皮质醇、雄烯二酮和睾酮高于正常,而血钾、醛固酮和肾素活性偏低.双侧肾上腺呈结节样增生.筛查CYP11B1基因,证实患者1为该基因8号外显子第453位和第454位氨基酸的复合杂合替代突变( R453Q/R454C);而患者2为该基因第454位氨基酸纯合替代突变(R454C).结论 11β-OHD是引起先天性肾上腺皮质增生的第二大类病因,易误诊为原发性醛固酮增多症、21-羟化酶缺陷症等在青少年起病的难治性高血压伴有双侧肾上腺皮质增生的患者中,应该注意11β-OHD的筛查.     

Polycystic Ovaries Associated with Congenital Adrenal Hyperplasia

Polycystic ovaries were found in a 16-year-old female with congenital absence of vagina, male-like external genitalia, and congenital adrenal hyperplasia. Masculinization was sufficiently severe to cause the patient to be reared as a male. Biochemical studies of ovarian tissue revealed hyperactivity and an imbalance of enzyme systems concerned with steroid-hormone biosynthesis, which led to production of large amounts of androgens. The pathway towards estrogens was preserved but less efficient than normal. Urinary steroid metabolites before and after hysterectomy and bilateral salpingo-oophorectomy revealed an absence of Porter-Silber chromogens and tetrahydrocortisone. Excretion of aldosterone was normal and that of corticosterone slightly higher than normal. The patterns of urinary 17-ketosteroids, pregnanediol, pregnanetriol and pregnanetriolone were similar to those commonly seen in congenital adrenal hyperplasia with steroid 21-hydroxylase deficiency. Urinary estrogens after panhysterectomy were low, being in the post-menopausal range. The pathogenesis of polycystic ovaries and their possible contribution to masculinization are discussed.     

22例肾上腺疾病CT诊断体会

目的探讨CT对肾上腺疾病的诊断价值。方法对22例肾上腺疾病的CT资料进行回顾性分析,在CT图像上观察病变的位置、形态、大小、密度及与周围结构的关系。结果5例肾上腺腺瘤,5例嗜铬细胞瘤,3例肾上腺皮质增生症,1例髓样脂肪瘤,5例肾上腺转移,3例肾上腺结核。结论CT对肾上腺疾病诊断具有重要价值。     

Pharmacologic suppression of the fetal adrenal gland in utero. Attempted prevention of abnormal external genital masculinization in suspected congenital adrenal hyperplasia

21-Hydroxylase deficiency results in congenital adrenal hyperplasia and leads to masculinization of the external genitalia of affected females. This complication could be avoided if fetal adrenal gland function were suppressed. A woman with mild 21-hydroxylase deficiency whose previous female child had classic congenital adrenal hyperplasia with masculinization was given dexamethasone beginning at the tenth week of gestation. Maternal estriol and cortisol values indicated rapid and sustained fetal and maternal adrenal gland suppression. At 39 weeks' gestation, the patient was spontaneously delivered of a female neonate with normal external genitalia. Postnatal tests indicated the infant was a single heterozygote for 21-hydroxylase deficiency. This study demonstrates prolonged suppression of the fetal adrenal gland with dexamethasone and suggests it might prevent abnormal masculinization in fetuses with severe congenital adrenal hyperplasia.     

Cyanotic heart disease: "low altitude" risk for carotid body tumor?

A young woman with hypoplastic right heart syndrome developed a carotid body tumor at age 28. High altitude habitation is known to predispose to hyperplastic and neoplastic carotid bodies; emphysema and congenital cyanotic heart disease have recently been shown to induce hyperplasia of this oxytrophic tissue. Therefore, a link between congenital cyanosis and carotid body tumor is suggested by this patient. Carotid bodies are nonchromaffin paraganglionic analogues of the adrenal medulla. Congenital cyanosis has an association with pheochromocytoma. In the cyanotic milieu carotid body tumor may be a histological analogue of pheochromocytoma.     

1例肾上腺骨髓脂肪瘤报告及文献复习

肾上腺骨髓脂肪瘤是一种罕见的、无功能的良性肿瘤，它由成熟的脂肪组织和骨髓成份所组成。本文报道一例因病人偶感不适，常规体检时发现在左肾上腺骨髓脂肪瘤的病例。     

Functioning adrenal adenoma in association with congenital adrenal hyperplasia

We report a case of a young hypertensive male who was first seen in 1998 with a right thalamic haemorrhage and uncontrolled hypertension. CT abdomen showed a right adrenal tumour and a hyperplastic left adrenal gland. Laparoscopic adrenalectomy performed followed by histopathological examination confirmed the diagnosis of adrenal adenoma. He subsequently presented to us again a year later with persistent hyperkalaemia and asymptomatic hyponatraemia. Further investigations strongly suggested the presence of isolated mineralocorticoid deficiency with normal cortisol levels. This was confirmed to be due to partial or late-onset congenital adrenal hyperplasia (CAH). We discuss the association of partial CAH and adrenal tumours and the unmasking of the mineralocorticoid deficiency following adrenalectomy.     

经腹腔径路腹腔镜肾上腺切除术108例手术体会及经验总结

目的总结经腹腔途径行腹腔镜肾上腺切除术治疗肾上腺外科疾病的手术体会及经验。方法 2006年6月至2012年5月,行经腹腔腹腔镜肾上腺切除术108例。男性48例,女性60例;年龄22～76岁;病变位于右侧40例,左侧63例,双侧5例;切除肿瘤/肾上腺大小0.5～11cm,平均4.5cm;其中18例有下腹部经腹腔手术史。结果除1例因膈肌损伤中转开放外,107例腹腔镜手术均顺利完成,术中出血0～200mL,平均20mL,手术时间45～150min,平均70min。术后1～2d肛门排气,2d内下床活动,术后住院时间3～7d。术后无严重并发症发生。术后病理检查:嗜铬细胞瘤38例,醛固酮腺瘤20例,原醛结节性增生6例,皮质醇增多症5例,无功能腺瘤20例,髓质脂肪瘤10例,肾上腺假性囊肿3例,节细胞神经瘤3例,肾上腺皮质癌2例,转移癌1例。结论经腹腔腹腔镜肾上腺切除术,具有手术空间大、视野清晰、解剖标志清楚、便于较早结扎处理肾上腺静脉、符合人体工效学等优点,适合于嗜铬细胞瘤、较大的肾上腺肿瘤及恶性肾上腺肿瘤等的切除。     

肾上腺静脉取血术在原发性醛固酮增多症患者中的诊断价值

目的:探讨肾上腺静脉取血术(AVS)在原发性醛固酮增多症(PA)患者临床诊断中的价值。方法:回顾我院2015年5月-2017年5月收治的38例PA患者,分为单侧肾上腺微结节组、双侧肾上腺增厚组及双侧肾上腺单发性大结节组,对此3组患者的AVS检查结果进行统计学分析,金标准设定为病理检查结果。结果:单侧肾上腺微结患者组,AVS诊断肾上腺腺瘤患者18例,病理证实腺瘤患者17例,增生1例,符合率为94.4%（17/18）,P＜0.01;AVS诊断增生患者4例,符合率为75.0%（3/4）,P＜0.01。双侧肾上腺增厚患者组,AVS诊断腺瘤患者4例,符合率为75.0%（3/4）P＜0.05;AVS诊断增生患者8例,符合率为87.5%（7/8）P＜0.05。双侧肾上腺单发性大结节患者中,AVS诊断腺瘤患者3例,增生1例,符合率为100%（4/4）P＜0.05。结论:AVS检查在单发性肾上腺微结节的PA患者中具有一定的辅助诊断作用,但非临床所必需;在双侧肾上腺增厚的PA患者的早期诊断及治疗具有重要意义;在双侧肾上腺单发性大结节的PA患者的手术侧别选择中提供一定的帮助。