家族性嗜铬细胞瘤三例报告

家族性嗜铬细胞瘤三例报告刘静波例１，男，３７岁。因发作性晕厥２次于１９８７年１２月７日入院。患者于半年前无诱因突然晕厥，持续数分钟清醒、感头痛、恶心呕吐。当时测血压２４／１６ｋＰａ，服复方降压片２片症状消失。入院前４天再次晕厥，２分钟后清醒出现头痛、...     

家族性嗜铬细胞瘤——一个家系的调查

Carman于1960年首次提出某些嗜铬细胞瘤(PHEO),的发病与遗传因素有关,以后在PHEO患者家族成员中PHEO发病情况的调查愈来愈被人们所重视。我院自1982年至1985年共确诊并手术治疗PHEO患者34例,其中2例患者属同一家族,故家族性PHEO在住院PHEO患者中发病率为5.9%,与国外报告的6%相近。     

嗜铬细胞瘤并急性非心源性肺水肿、休克1例报告并文献复习

嗜铬细胞瘤是起源于嗜铬细胞的肿瘤,通过分泌和释放大量的儿茶酚胺引起阵发性或持续性血压升高,其中约25％ ～ 50％合并儿茶酚胺心肌病[1].嗜铬细胞瘤合并急性心力衰竭、肺水肿时预后很差[2],同时合并休克时病情更危重.我院成功抢救嗜铬细胞瘤并急性非心源性肺水肿及休克1例,报道如下.     

肾上腺嗜铬细胞瘤的外科治疗(附67例报告)

肾上腺嗜铬细胞瘤的临床特征为高血压和代谢改变 ,由于内科治疗只能控制血压 ,不能抑制肿瘤的生长 ,且副作用较多 ,因此 ,一经确诊如无手术禁忌症 ,应积极给予外科手术治疗。 1 988～ 2 0 0 1年 ,我们对 67例肾上腺嗜铬细胞瘤患者进行手术治疗 ,效果满意 ,现报告如下 ,1　资料与方法本组男 39例、女 2 8例 ,年龄 1 5～ 72岁、平均 37岁。病变位于左侧 41例 ,右侧 2 3例 ,双侧 4例。有高血压症状 64例 ,其中高血压呈持续性 45例 ,阵发性1 0例 ,持续性高血压阵发性加剧 9例 ;无高血压症状3例。发作时伴有心悸、头痛、多汗、视力模糊、胸闷5 9…     

以视力障碍为首发症状的嗜铬细胞瘤2例报告

临床上以视力障碍为首发症状的嗜铬细胞瘤少见 ,笔者曾遇 2例。现报告如下。例 1:男 ,2 7岁 ,双眼视物模糊 ,无眼前黑影和视物变形 4天。视力 :右眼 0 .6 ,左眼 0 .5。眼压 :右眼 2 .6 6 k Pa,左眼2 .46 k Pa。眼部检查 :两眼球结膜血管轻度充盈 ,角膜透明 ,前房深浅正常 ,虹膜纹理清 ,瞳孔圆 ,等大 ,直径 3mm,对光反应存在 ,晶状体透明 ,玻璃体无混浊。眼底检查 :双眼视神经乳头边界不清 ,稍隆起 ,生理凹陷饱满 ,色泽红润 ,视神经乳头表面及其周围有放射状灰色纹理 ,期间有扩张的毛细血管 ,视网膜静脉充盈 ,静脉搏动消失 ,黄斑中心凹反光…     

嗜铬细胞瘤并肾动脉狭窄的外科治疗（附1例报告及文献复习）

嗜铬细胞瘤合并肾动脉狭窄非常少见,自Harrison等1958年报告首例以来,至1985年国外文献仅报告了30多例,kaufman报告自1962～1978年共诊治504例肾动脉狭窄患者,其中合并嗜铬细胞瘤4例,占0.8%。国内吴万春等1980年报告首例,至1991年国内共报告5例,本文报     

家族性局灶节段肾小球硬化症一家系临床与基因调查

目的:分析一个局灶节段性肾小球硬化症(FSGS)家系的临床特征,并对已知致病基因进行筛查。方法:调查1个中国汉族人FSGS家系,筛查其中78名成员后对可疑成员进行仔细临床检查。采集家系中67名成员的外周血样抽提基因组DNA,采用PCR扩增先证者NPHS2,ACTN4和TRPC6基因的所有外显子,寻找突变的方法对已知的家族性FSGS致病基因进行筛查。结果:该家系共有4代,103名成员,遗传方式为常染色体显性遗传。78名被调查家系成员中有11例患者和3例疑似患者迟发起病,平均发病年龄35.9岁。两例患者经肾活检证实为FSGS,其余患者均有不同程度蛋白尿,部分伴镜下血尿。家系先证者基因组DNA进行PCR逐个外显子扩增测序,未发现NPHS2、ACTN4、TRPC6三个已知的致病基因存在突变,发现SNP7个。结论:本家系是已报道最大的一个中国汉族人FSGS家系,符合常染色体显性遗传迟发起病型,家系内患者间临床表现存在明显差异。已知基因NPHS2、ACTN4、TRPC6不是该家系的致病基因。     

进行性家族性肝内胆汁淤积症3型:2例报道并文献复习

进行性家族性肝内胆汁淤积症是一组罕见的常染色体隐性遗传病,起病早,进展快,死亡率高,治疗较为困难。本文报道进行性家族性肝内胆汁淤积症3型2例,并附文献复习。     

Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature

Progressive familial intrahepatic cholestasis type 3 is caused by a mutation in the ATP-binding cassette, subfamily B, member 4 (ABCB4) gene encoding multidrug resistance protein 3. A 32-year-old woman with a history of acute hepatitis at age 9 years was found to have jaundice during pregnancy in 2008, and was diagnosed as having intrahepatic cholestasis of pregnancy. In 2009, she underwent cholecystectomy for gallstones and chronic cholecystitis. However, itching and jaundice did not resolve postoperatively. She was admitted to our hospital with fatigue, jaundice, and a recently elevated γ-glutamyl transpeptidase level. Liver biopsy led to the diagnosis of biliary cirrhosis with ductopenia. Genetic testing revealed a pathogenic heterozygous mutation, ex13 c.1531G A (p.A511 T), in the ABCB4 gene. Her father did not carry the mutation, but her mother's brother carried the heterozygous mutation. We made a definitivediagnosis of familial intrahepatic cholestasis type 3. He symptoms and liver function improved after 3 mo o treatment with ursodeoxycholic acid.     

Familial acromegaly: a familial report and review of the literature

Familial acromegaly without features of multiple endocrine neoplasie type 1 (MEN 1) is an exceptional clinical entity. We report in this article three cases of acromegaly due to pituitary macroadenomas without any other endocrinopathy in a family. A 31-year-old woman (subject A) and her 34-year-old sister (subject B) with elevated basal rolactin (PRL) levels, elevated growth hormone (GH) levels during the oral glucose tolerance test (OGTT) and a pituitary adenoma in Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) were diagnosed as acromegaly. Subject A was treated only with radiotherapy and Lysuride. Subject B underwent transsphenoidal microsurgical extirpation 15 years ago. 11 years later her 24-year-old son (subject C) also presented with typical signs of acromegaly, elevated basal PRL level and elevated GH levels during OGTT. A pituitary macroadenoma was identified by MRI and he also underwent transsphenoidal adenomectomy. Pathology reports confirmed the diagnosis of GH-secreting pituitary adenoma in subject B and C. Immunocytochemistry revealed that tumours of subject B (> 20% of tumour cells) and C (> 50% of tumour cells) were positive for GH. Tumours of subject B (> 10% of tumour cells) and C (> 50% of tumour cells) also exhibited immunoreactivity for PRL. On investigation of histocompatibility antigens, it was observed that the subject A, B, and C shared the same haplotypes [HLA A24(9), HLA B13(6), HLA B35, HLA DQ7(3), HLA DR13(6)] and so it is very possible that investigation of HLA antigens in patients with pituitary tumour, contributes to better identification of its familial nature and frequency. Here we describe an acromegaly family and the distributions of HLA antigens.     

Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis

BACKGROUND & AIMS: An attenuated form of familial adenomatous polyposis has been described, but the phenotype remains poorly understood. METHODS: We performed genetic testing on 810 individuals from 2 attenuated familial adenomatous polyposis kindreds harboring an identical germline adenomatous polyposis coli gene mutation. Colonoscopy was performed on mutation-positive persons. RESULTS: The disease-causing mutation was present in 184 individuals. Adenomatous polyps were present in 111 of 120 gene carriers who had colonoscopy at an average age of 41 years. The median number of adenomas was 25 (range, 0-470), with striking variability of polyp numbers and a proximal colonic predominance of polyps. Colorectal cancer occurred in 27 mutation carriers (average age, 58 years; range, 29-81 years), with 75% in the proximal colon. The cumulative risk of colorectal cancer by age 80 was estimated to be 69%. An average of 3.4 recurrent polyps (range, 0-29) were found in the postcolectomy rectal remnant over a mean of 7.8 years (range, 1-34 years), with 1 rectal cancer. CONCLUSIONS: This investigation shows that attenuated familial adenomatous polyposis in the kindreds examined shows a much smaller median number of polyps than typical familial adenomatous polyposis, a wide variability in polyp number even at older ages, and a more proximal colonic location of polyps and cancer, yet it is associated with an extremely high risk of colon cancer. The phenotype of attenuated familial adenomatous polyposis mimics typical familial adenomatous polyposis in some cases but in others is difficult to distinguish from sporadic adenomas and colorectal cancer, thus making genetic testing particularly important.     

Polycythemia vera in childhood: Case report and review of the literature

A patient presented at 5 years of age with polycythemia vera. He subsequently developed splenic infarctions and died at 20 years of age following cerebral hemorrhage and infarctions. Two months before his death, he developed hypertension and had biochemical evidence of primary hyperparathyroidism and possibly pheochromocytoma. Only nine reported childhood cases of polycythemia vera fulfill the criteria of the Polycythemia Vera Study Group. These cases are summarized and the complications discussed. Although none have progressed to myeloid metaplasia or acute leukemia, these patients are at risk of developing thrombo-hemorrhagic complications; available evidence indicates that they should be managed to keep the hematocrit between 40 and 45%.     

Assessment of thyroid and adrenal function in patients with familial amyloidotic polyneuropathy

This study was performed to evaluate thyroid and adrenal function in patients with familial amyloidotic polyneuropathy. Twenty-four patients without any clinical overt endocrinological dysfunction were studied. None of the patients showed laboratory evidences of hypo- or hyperthyroidism. A short ACTH-stimulation test was performed in 17 of the patients. A low cortisol response to ACTH stimulation, suggesting adrenocortical insufficiency, was found in four (24%) of the patients, and an intermediate response interpreted as suspected hypofunction was found in three (18%) patients. Low serum dehydroepiandrosterone sulphate levels, suggesting adrenal hypofunction, were found in six (25%) of the patients. We believe that the possibility of glucocorticoid insufficiency should always be considered in patients with familial amyloidotic polyneuropathy.