家族性良性红细胞增多症1例

患儿 ,男 ,3岁 ,孕 39周 ,顺产 ,无宫内窘迫、产后窒息及羊水吸入史。生后即发现颜面及全皮肤青紫 ,清理呼吸道后哭声响亮 ,呼吸节律及反应正常。予吸氧等处理 ,10h后青紫仍无改善而转入儿科。查体 :体重 2 6 0 0g ,体温 36 .4℃ ,脉搏 12 8次 /min ,呼吸 36次 /min。急性重病容 ,全身皮肤、口腔黏膜及舌呈紫黑色 ,心、肺、腹无明显异常。神经系统检查除Chvotek征阳性外 ,余均无异常。X线胸片 :心脏外形无异常 ,双肺野清晰 ;心脏彩超 :无异常分流 ;各射血指数均正常。外周血 :Hb 2 4 5 g/L ,红细胞 8.86× 10 12 g/L ,红细胞比容 0 .76 ,…     

新生儿遗传性球形红细胞增多症1例

患儿，女，5h，因皮肤黄染5h入院。系G2P2，孕39周自然分娩，出生体质量3400g，1minApgar评分9～10分，患儿未开奶，已排胎便，生后不久即出现皮肤黄染，并渐加重，无发热，无抽搐，无呕吐。体检：体温36．2℃，心率120次／min，呼吸42次／min，体质量3400g。精神反应稍差，发育中等，呼吸平，哭声尖直，全身皮肤稍黄染，面容苍黄，浅表淋巴结未及肿大，头型正，颅缝已闭。     

遗传性球形红细胞增多症26例

目的分析遗传性球形红细胞增多症（HS）误诊、漏诊原因,以提高其诊断率。方法收集本院儿科2000年1月-2007年12月26例HS住院患儿资料,分析其遗传背景、临床特征（首诊症状、并发症、合并症）及诊疗经过。结果男女发病比例为2.25：1.0;平均发病年龄6.50岁。家族史阳性18例（69.2%）,其中父亲患病8例,母亲患病10例。首诊症状主要为贫血（96.2%）和黄疸（92.3%）,脾大发生率为100%,症状因感染反复加重者17例（65.4%）。实验室检查示重度贫血7例（26.9%）,一过性再生障碍性贫血1例;网织红细胞升高26例（100%）;外周血涂片球形红细胞易见20例（76.9%）,偶见6例（23.1%）;红细胞脆性试验阳性率95.2%（20/21例）,正常1例。并溶血危象7例,再生障碍性贫血危象1例,并营养性缺铁性贫血3例,β珠蛋白生成障碍性贫血、G-6PD缺乏症、慢性乙型病毒性肝炎各1例。误诊10例（38.5%）,平均误诊时间2.17 a,最长5 a,其中营养性缺铁性贫血3例,α珠蛋白生成障碍性贫血、G-6PD缺乏症各2例,药物性溶血性贫血、肝硬化、吉尔伯特综合征各1例;漏诊8例（30.8%）,平均漏诊时间3.86 a,最长7 a。结论HS误诊漏诊率高,其表现缺乏特异性,且发病时常并感染、其他贫血及红细胞形态及脆性检查受影响是导致误诊、漏诊的主要原因。     

遗传性球形红细胞增多症伴家族性一过性造血障碍危象

在同一家族内和相邻社区里，在同一时间里发现遗传性球形红细胞增多症并发一过性造血障碍儿童3例，对早期和恢复期的周围血和骨髓造血作了连续观察，表明早期有红系造血抑制，越是接近成熟的幼红细胞抑制越多，并可见巨形嗜碱性原始红细胞，恢复期中，有中、晚幼红细胞高度增生。     

新生儿红细胞增多症47例临床分析

本文报道新生儿红细胞增多症47例,病因:①宫内缺氧红细胞生成素增加(主动型):围产期窒息25例,小于胎龄儿12例,母患糖尿病及21-三体综合征各1例,②血容量增加(被动型):胎～胎输血7例,晚扎脐带1例。有症状的婴儿采用部分换血治疗(15～20ml/kg),尽快使红细胞压积降至0.60以下,本组部分换血22例,另25例经血浆、白蛋白,甚至生理盐水静脉稀释治疗,46例痊愈,仅1例早产儿治疗过晚死亡,病死率为2.1％,     

ANK1基因Arg1436Ter突变导致遗传性球形红细胞增多症1例并文献复习

目的加强对遗传性球形红细胞增多症(HS)的认识。方法对1例ANK1基因Arg1436Ter突变导致HS的患儿临床资料进行回顾性分析并复习相关文献。结果患儿,男,4岁,表现为反复面色苍白、黄疸和脾肿大,血常规提示贫血、网织红细胞计数增高;骨髓细胞学检查表现为增生性贫血;多次行血涂片检查,外周血球形红细胞比例均10%,最高为7%;经基因测序在患儿ANK1基因发现c.4306CT(编码区第4306号核苷酸由C变为T)的杂合核苷酸变异,该变异的致病性已经被证实,与球形红细胞增多症相关。结论HS的病因明确,为先天性遗传性的红细胞膜缺陷,临床上HS的误诊及漏诊率较高,基因检查是HS中极其重要的检测手段,我们在HS患儿中发现的ANK1基因新突变可为进一步探索我国人群中HS的遗传学病因提供参考。     

小儿真性红细胞增多症一例

小儿真性红细胞增多症一例郭瑞官洪扬文患儿男，４岁。以颜面潮红３年，头晕７天为主诉入院。３年前无诱因发现面色潮红，无其他异常，未就医。半年后因“肺炎”住院，经外周血和骨髓检查诊断为“真性红细胞增多症”，给予胸腺因子Ｄ，马利兰治疗，住院１个月症状无好转出...     

家族性高胆固醇血症1例

患儿，男，10岁6个月。因自幼患皮肤黄色瘤来我院就诊。生后1岁多皮肤出现黄色瘤，先是点状后逐渐融合成条索状和片状；9岁来诊时分布在肘、膝、臀部、足跟、手背处。既往未治疗过。无其他先天性疾病史。否认近亲结婚和家族遗传性病史。其弟2岁，生后1岁多时皮肤出现黄色瘤，分布在臀部、足跟、手背处，呈点状。     

Familial Achalasia,a Case Report

Background

Although achalasia is a relatively rare disease in pediatric age group, it must be considered for differential diagnosis of esophageal disorders in children with positive family history even in the absence of typical clinical manifestations.

Case Presentation

A 5-month old boy was hospitalized for cough and mild respiratory distress. Because of positive history of achalasia in his mother, achalasia was detected in esophgagography. Pneumatic dilation through endoscopy was successful. A 12-month follow-up revealed no problem.

Conclusion

Achalasia must be considered for differential diagnosis in children with positive family history of achalasia even in the absence of typical clinical manifestations. An autosomal recessive mode of inheritance is probable. We suggest further researches and genetic studies to establish the pattern of inheritance.     

Polycythemia: A Review Article and Case Report of Erythrocytosis Secondary to Wilms' Tumor

We describe a child with Wilms' tumor whose only finding at presentation was polycythemia. A review of the mechanism of erythropoiesis regulation as well as the differential diagnosis, work-up, and management of polycythemia in children is presented. Our report emphasizes the need for a thorough evaluation of children who present with polycythemia.     

Familial Juvenile Nephronophthisis: Report of a Case including Microdissection Studies

McCredie, D. A., and Baxter, Thelma J. (1976). Aust. paediat. J. , 12, 118–127. Familial juvenile nephronophthisis. Report of a case including microdissection studies. Clinical and pathological findings are described in an 18-year-old male who died from familial juvenile nephronophthisis. Particular attention is devoted to microdissection studies. Diverticula were found in most segments of the nephron and were much more prominent than in any other renal disease. They reached maximal size and number in the distal convoluted tubule but were also well developed in the loop of Henle and most other areas. Cysts were present in collecting tubules and proximal tubules, and were particularly prominent at the junction of Henle's loop with the distal tubule. Marked convolution of Henle's loop was also a feature. The condition appears to begin in the distal nephron, but progresses to involve all segments. The etiology is obscure. Reports from other centres overseas suggest that this condition is more frequent than is generally appreciated.     

家族性高乳糜微粒血症2例

家族性高乳糜微粒血症(FCS)是一种罕见的常染色体隐性遗传病,亦称原发性高脂蛋白血症Ⅰ型.本院6 a来诊治2例.现报告如下.     

家族性高脂蛋白血症ⅡA型黄瘤病1例

患儿,男,14岁,3岁时臀部发现黄色结节、斑块,5年前皮损不断扩大,增多至肘、膝等处,无自觉症状。0.5年来出现活动后胸闷、乏力,加重1个月来诊。患儿无糖尿病、肝炎病史。其父母非近亲结婚,其姐16岁,体健。入院查体:血压145/110mmHg,双眼可见角膜环,心音低钝,心率120次/mim,律齐,     

支气管扩张症1例

患儿,男,12岁,以反复咳嗽、咯痰5年、加重2个月为主诉入院。5年前开始反复咳嗽,咯黄痰,每年至少发作4次,每次持续10~20 d。近2个月病情明显加重,无咯血,盗汗较重,体质量无减轻,无结核接触史。查体:神清,呼吸平稳,营养中等,咽充血,扁桃体Ⅰ度大。双肺底可闻及密集吸气末中小湿音,以左肺底为主。血白细胞17.4×109/L,中性粒细胞0.84,红细胞5.0×1012/L,血红蛋白151 g/L,血沉53 mm/1 h,降钙素原1.56 ng/L,C-反应蛋白67.4 mg/L。病原学检查:肺炎支原体、肺炎衣原体、腺病毒、合胞病毒、流感病毒、副流感病毒、柯萨奇病毒、埃可病毒、腮腺炎病…