家族性自发性气胸

家族性自发性气胸是一种少见的遗传性疾病，本文报告３个家族共１１例患者，５男６女，共２１次气胸发作，有６人经手术治疗，气胸原因为胸膜下肺大疱破裂。复习文献，作者认为我国家族性自发性气胸符合常染色体显性遗传。     

三家系家族性自发性气胸患者临床特点分析

家族性自发性气胸（FSP）是指家族中存在2人或2人以上患有自发性气胸,是1种少见遗传性疾病。自1921年由Faber首先报道后,国内外均有散见报道,但目前对于其发病机制仍小明确。我们共报告r9例家族性白发性气胸患者,分布于3个家族,其中4例于本院住院治疗,以期探讨家族性自发性气胸患者的临床特点及其与遗传学的关系。     

家族性自发性气胸七例

例１患者女性，４７岁，因胸闷、气短、咳嗽１个月于１９９７年３月１０日入院。否认慢性咳嗽及其它慢性肺病史。查体：体型匀称（身高１５８ｃｍ，体重５２ｋｇ），口唇无发绀，气管左偏，右肺叩诊呈鼓音，呼吸音消失。胸片示：右侧气胸，肺压缩９５％。经胸腔闭式引流４...     

家族性自发性气胸6例报告

家族性自发性气胸(Familiar Spontaneous Pneumothorax，FSP)是一种少见的遗传性疾病．我院1997年以来共发现3个家族共6例患者，17次气胸发作，本文报告他们的发病、治疗等情况．并对FSP形成可能的原因进行讨论。     

家族性自发性气胸6例

家族性自发性气胸是一种少见的遗传性疾病。我们遇到一个家族三代共六人出现自发性气胸 ,今报导如下。患者 ,男性 ,5 5岁 ,突发左侧胸痛四天伴咳嗽 ,气短入院。查体 :双侧胸廓略饱满 ,语颤减弱 ,叩诊鼓音 ,双肺尖呼吸音低 ,右侧明显。胸透发现双侧气胸 ,右侧压缩 30 % ,左侧 2 0 %。予抽气治疗后愈。既往于 1990年出现左侧气胸 ,压缩约 40 % ,我科抽气后愈。患者母亲 ,大哥 ,三姐及大哥之子 ,三姐之女均在 36～ 45岁出现自发性气胸 ,反复发作。其中大哥之子因反复左侧气胸 ,予手术切除左侧肺 ,术后证实为多发肺大疱。三姐之女于内地医院行胸…     

家族性自发性气胸6例报告

自发性气胸系肺大疱或胸膜下微小泡破裂,空气进入胸膜集聚造成肺脏被压缩所致。家族性自发性气胸是一种较少见的遗传性疾病,是指家族中有2人以上患有自发性气胸疾病,有的反复发作。我院近年来共收治2个家族6例自发性气胸患者。现报告如下。     

家族性聚集性自发性气胸一例

患者男性 ,47岁。因 5年间突发左侧胸痛、气急 2次就诊。 5年前因剧烈运动后突感左侧胸部持续性刺痛 ,伴有胸闷、气急 ,遂急入当地医院就诊 ,摄胸片示 :左肺气胸 (压缩面积约 30 % )、左侧肺大疱。 3个月前 ,无明显诱因上述症状再发 ,再次就诊 ,摄胸片示 :左肺气胸 (压缩面积约 90 % ) ,而行胸腔闭式引流术 ,1周后症状缓解 ,左肺复张。患者平素健康状况良好 ,否认肺结核等病史、吸烟指数 15 0。追问家族史其家族 6人中 5人有类似病史 :Ⅰ 1(母亲 ) ,6 7岁 ,胸片示 :右肺肺大疱 ,42岁时发作自发性气胸 1次。Ⅱ 1、Ⅱ 2、Ⅱ 3、Ⅱ 5皆为其姐…     

家族性自发性气胸患者人白细胞抗原的测定

家族性自发性气胸 (ＦＳＰ)较少见 ,于 192 1年Ｆａｂｅｒ首先报道一个家族同胞两人均患自发性气胸 ,之后散见于国内外文献 ,我们曾报道了两个家族 7例ＦＳＰ[1] 。国外有学者认为ＦＳＰ与人白细胞抗原 (ｈｕｍａｎｌｅｕｋｏｃｙｔｅａｎｔｉｇｅｎ ,ＨＬＡ)的Ａ2 Ｂ4 0 有关[2 ] ,国内文献尚无有关该方面的报道 ,现将我们测定的一个ＦＳＰ家族 3个成员ＨＬＡ的表现型及病例资料报告如下 (图1)。Ⅱ 4例 (先证者 ) :患者女性 ,47岁 ,于 1997年 3月因右侧自发性气胸入我院 ,患者于 1992年曾患左侧自发性气胸。Ⅰ 2例 (先证者母亲 ) :6 9岁时…     

家族性帕金森病α-synuclein基因突变分析

近年来,随着家族性帕金森病(PD)致病基因的相继发现,遗传因素在PD发病中的作用备受关注。按遗传方式不同,家族性PD可分为常染色体显性遗传性PD(ADPD)和常染色体隐性遗传性PD(ARPD)。我们于2004年3月至2005年1月对5个ADPD家系16例患者中5例先证者应用DNA测序行α-synuclein基因突变检测,旨在了解我国ADPDα-synuclein基因突变情况。     

Familial Hypocalciuric Hypercalcemia

Reviews in Endocrine and Metabolic Disorders -     

Autosomal dominant 'Mediterranean fever' in a Finnish family.

A 23-year-old Finnish man was examined because of an 8-year history of recurrent bouts of fever and abdominal pain. His father had been repeatedly investigated because of similar episodes since he was 24 years old, and one of the father's sisters was reported to have had recurrent periods of fever. The clinical features closely resembled those of familial Mediterranean fever (FMF), a syndrome rarely described in families of European descent. Unlike typical FMF, which is inherited as an autosomal recessive trait, the mode of inheritance of the syndrome in our family may be regarded as dominant. During a recent attack, serum concentrations of interleukin-1-beta, interleukin-6 and acute phase reactants, including serum amyloid A protein, were high. No signs of amyloidosis were detected in our patients.     

A casual spontaneous mutation as possible cause of the familial form of arrhythmogenic right ventricular cardiomyopathy (arrhythmogenic right ventricular dysplasia).

In a family affected by arrhythmogenic right ventricular cardiomyopathy (ARVC) the familial occurrence was investigated. All 14 members of two generations were investigated carefully, and only 2 (father and one son) members were affected. Both subjects had a massive form of the disease with relevant ventricular arrhythmias. Apart from the limitations of having investigated few subjects, this behavior suggests a genetic mutation appearing in the father and transmitted via an autosomal dominant trait.     

进行性骨化性纤维发育不良1例报告

进行性骨化性纤维发育不良(fibrodysplasia ossificans progressiva,FOP)又称进行性骨化性肌炎(myositis ossificans progressiva,MOP),是一种罕见的以先天性拇趾短小外翻畸形和进行性异位骨化为主要特征的常染色体显性遗传病,发病率为1/2 000 000...     

Familial hiatal hernia in a large five generation family confirming true autosomal dominant inheritance

BACKGROUND: Familial hiatal hernia has only rarely been documented. AIMS: To describe the pattern of inheritance of familial hiatal hernia within an affected family. SUBJECTS: Thirty eight members of a family pedigree across five generations. METHODS: All family members were interviewed and investigated by barium meal for evidence of a hiatal hernia. RESULTS: Twenty three of 38 family members had radiological evidence of a hiatal hernia. No individual with a hiatal hernia was born to unaffected parents. In one case direct male to male transmission was shown. CONCLUSIONS: Familial inheritance of hiatal hernia does occur. Evidence of direct male to male transmission points to an autosomal dominant mode of inheritance.     

Familial neonatal pneumothorax associated with transient tachypnea of the newborn

We describe neonatal spontaneous pneumothorax associated with transient tachypnea of the newborn in siblings of two families. Familial spontaneous pneumothorax is extremely rare in neonates. Was our observation just an incidental finding, or is there a familial predisposition to spontaneous pneumothorax? Pediatr Pulmonol. 2003; 36:69–72. © 2003 Wiley‐Liss, Inc.     

Familial trends of inheritance in gastro esophageal reflux disease, Barrett''s esophagus and Barrett''s adenocarcinoma: 20 families

We reported four families with familial Barrett's esophagus (FBE) in 1993. This follow-up study includes an additional 16 families with FBE, gastroesophageal reflux disease (GERD) and BE-related adenocarcinoma (BEAC) highlighting the familial trends of inheritance. A retrospective survey of endoscopic and histopathological reports on 95 confirmed cases of BE from 1975 to 2005 was performed and a detailed family history was obtained. Five representative pedigrees from a total of 20 are discussed here. These 20 families represent one of the largest cohorts studied over three decades from a single institution. Familial BE is more common than previously thought and the prevalence of GERD, BE and BEAC in these families is distinctly higher than with sporadic cases. The conditions appear to be inherited in an autosomal dominant fashion with incomplete penetrance. Hence diligence in taking family history with BE patients is critical since the endoscopic screening of relatives is warranted in FBE. Earlier diagnosis and surveillance of FBE should hopefully improve outcomes.     

Familial multiple myeloma: report of fifteen families

To further define the frequency, clinical and biological features of familial multiple myeloma we performed a retrospective study of related patients who presented with multiple myeloma. Most cases of familial multiple myeloma were observed in siblings (10/15), in whom the mean age at diagnosis was similar to unrelated multiple myeloma. In successive generations the mean age at diagnosis was lower. Monoclonal component was identical (IgG kappa) in seven families. Familial history of monoclonal gammopathy of undetermined significance was observed in three families. Five other prospective studies of 1263 patients identified four affected families (3.2 per 1000 cases of multiple myeloma), and raise the question of a genetic background in multiple myeloma.