伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是NOTCH3基因突变所致的遗传性脑小血管病,主要病变血管为颅内小动脉,累...伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是NOTCH3基因突变所致的遗传性脑小血管病,主要病变血管为颅内小动脉,累及大脑皮质和颅内大/中动脉的报道较罕见,目前缺乏特效治疗方法。本文报道1例大脑中动脉急性闭塞成功接受血管内治疗的CADASIL病例,并结合文献进行讨论,旨在引起临床医师对CADASIL可累及大脑皮质和颅内大/中动脉的重视。展开更多
常染色体显性遗传性多囊肾(ADPKD)是一种常见的肾脏遗传病,为单基因遗传,以双侧肾囊肿为特征,导致肾功能进行性下降。近年来基因检测技术和一些新药物的使用,使得ADPKD的管理取得了长足进步。但作为最常见的单基因遗传性肾病ADPKD患者...常染色体显性遗传性多囊肾(ADPKD)是一种常见的肾脏遗传病,为单基因遗传,以双侧肾囊肿为特征,导致肾功能进行性下降。近年来基因检测技术和一些新药物的使用,使得ADPKD的管理取得了长足进步。但作为最常见的单基因遗传性肾病ADPKD患者的发病年龄与育龄期妇女高度重合,母亲和婴儿的妊娠结局与普通人群不同,妊娠并发症的长期后果在ADPKD中也很常见。本文将对ADPKD患者妊娠后的影响、妊娠期间的多方面治疗与管理进行综述。Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a prevalent genetic kidney disorder inherited through a single gene, characterized by bilateral renal cysts that lead to a progressive decline in renal function. Recent advancements in genetic testing technology and the introduction of novel medications have significantly improved the management of ADPKD. However, as the most prevalent monogenic inherited kidney disease, ADPKD patients often experience onset during childbearing age, leading to distinctive pregnancy outcomes for both mothers and infants compared to the general population. Additionally, long-term consequences of pregnancy complications are common in ADPKD. This review aims to outline the impact of pregnancy on ADPKD patients and explore multiple treatment and management strategies during pregnancy.展开更多
目的:分析伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(Cerebral autosomal dominant arteriopathy with subcortical infacts and leukoencephalopathy,CADASIL)影像学演变过程。方法:收集经基因检测确诊的3例CADASIL患者影...目的:分析伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(Cerebral autosomal dominant arteriopathy with subcortical infacts and leukoencephalopathy,CADASIL)影像学演变过程。方法:收集经基因检测确诊的3例CADASIL患者影像学检查资料,分析颅脑磁共振病变演变过程。结果:CADASIL患者MRI主要显示白质高信号(White matter hyperintensities,WMH)、腔隙性梗死、微出血、脑萎缩。本文患者WMH病变双侧对称分布,颞极和外囊是WMH的好发部位,颞极病变出现早于外囊,但病变以侧脑室旁和半卵圆中心最严重,随着病情进展,病变由多灶性分布进展为弥漫性分布;腔隙性梗死好发部位为丘脑、基底节区、外囊、半卵圆中心等部位。结论:CADASIL患者磁共振出现病灶可早于临床表现数年,甚至数十年;出现白质高信号病变早于腔隙性梗死,颞极病灶在MRI中出现最早,且具有很强的特异性。展开更多
皮质下梗死伴白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是一种较少见的、以反复脑卒中发作与血管性痴呆为特征的遗传性脑小血管疾...皮质下梗死伴白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是一种较少见的、以反复脑卒中发作与血管性痴呆为特征的遗传性脑小血管疾病[1]。该病多于中年起病,早期可有先兆性偏头痛、短暂性脑缺血发作等症状,随着年龄增长逐渐出现反复脑卒中发作,最终导致精神异常和血管性痴呆;头颅MRI特征包括皮层下腔隙性梗死灶、颞极、侧脑室周围和皮层下白质病变[2]。CADASIL致病基因NOTCH3位于染色体19p13.2-13.1,大部分变异为错义突变,也有少部分为缺失、插入和剪切[3]。随着分子检测技术的进步和普及,越来越多的CADASIL家系经基因检测确诊[4-5]。本文分析了两个CADASIL家系NOTCH3基因突变情况,并对其临床特点进行了总结,报道如下。展开更多
伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是成人最常见的遗传性脑小血管病。自CADASIL的致病基因NOTCH3被鉴定以来...伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是成人最常见的遗传性脑小血管病。自CADASIL的致病基因NOTCH3被鉴定以来,大量CADASIL病例被报道,但迄今仍缺乏有效的治疗药物。本文针对CADASIL的疾病模型和致病机制、对症药物治疗及潜在治疗方案研究进展进行综述,以期为后续CADASIL发病机制和治疗研究提供参考。展开更多
Autosomal dominant hereditary sensory neuropathy (HSN I) is a clinically and genetically heterogeneous group of disorders, and in some families it is due to mutations in the serine palmitoyltransferase (SPTLC1) gene. ...Autosomal dominant hereditary sensory neuropathy (HSN I) is a clinically and genetically heterogeneous group of disorders, and in some families it is due to mutations in the serine palmitoyltransferase (SPTLC1) gene. We have characterized two families with HSN I associated with cough and gastro-oesophageal reflux (GOR). From a large Australian family, 27 individuals and from a smaller family, 11 individuals provided clinical information and blood for genetic analysis. Affected individuals had an adult onset of paroxysmal cough, GOR and distal sensory loss. Cough could be triggered by noxious odours or by pressure in the external auditory canal (Arnold’s ear-cough reflex). Other features included throat clearing, hoarse voice, cough syncope and sensorineural hearing loss. Neurophysiological and pathological studies demonstrated a sensory axonal neuropathy. Gastric emptying studies were normal, and autonomic function and sweat tests were either normal or showed distal hypohidrosis. Cough was likely to be due to a combination of denervation hypersensitivity of the upper airways and oesophagus, and prominent GOR. Most affected individuals were shown on 24 h ambulatory oesophageal pH monitoring to have multiple episodes of GOR, closely temporally associated with coughing. Hoarse voice was probably attributable to acid-induced laryngeal damage, and there was no evidence of vocal cord palsy. No other cause for cough was found on most respiratory or otorhinological studies. Linkage to chromosome 3p22-p24 has been found in both families, with no evidence of linkage to loci for known HSN I, autosomal dominant hereditary motor and sensory neuropathy, hereditary GOR or triple A syndrome. These families represent a genetically novel variant of HSN I, with a distinctive cough owing to involvement of the upper aerodigestive tract.展开更多
文摘伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是NOTCH3基因突变所致的遗传性脑小血管病,主要病变血管为颅内小动脉,累及大脑皮质和颅内大/中动脉的报道较罕见,目前缺乏特效治疗方法。本文报道1例大脑中动脉急性闭塞成功接受血管内治疗的CADASIL病例,并结合文献进行讨论,旨在引起临床医师对CADASIL可累及大脑皮质和颅内大/中动脉的重视。
文摘常染色体显性遗传性多囊肾(ADPKD)是一种常见的肾脏遗传病,为单基因遗传,以双侧肾囊肿为特征,导致肾功能进行性下降。近年来基因检测技术和一些新药物的使用,使得ADPKD的管理取得了长足进步。但作为最常见的单基因遗传性肾病ADPKD患者的发病年龄与育龄期妇女高度重合,母亲和婴儿的妊娠结局与普通人群不同,妊娠并发症的长期后果在ADPKD中也很常见。本文将对ADPKD患者妊娠后的影响、妊娠期间的多方面治疗与管理进行综述。Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a prevalent genetic kidney disorder inherited through a single gene, characterized by bilateral renal cysts that lead to a progressive decline in renal function. Recent advancements in genetic testing technology and the introduction of novel medications have significantly improved the management of ADPKD. However, as the most prevalent monogenic inherited kidney disease, ADPKD patients often experience onset during childbearing age, leading to distinctive pregnancy outcomes for both mothers and infants compared to the general population. Additionally, long-term consequences of pregnancy complications are common in ADPKD. This review aims to outline the impact of pregnancy on ADPKD patients and explore multiple treatment and management strategies during pregnancy.
文摘皮质下梗死伴白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是一种较少见的、以反复脑卒中发作与血管性痴呆为特征的遗传性脑小血管疾病[1]。该病多于中年起病,早期可有先兆性偏头痛、短暂性脑缺血发作等症状,随着年龄增长逐渐出现反复脑卒中发作,最终导致精神异常和血管性痴呆;头颅MRI特征包括皮层下腔隙性梗死灶、颞极、侧脑室周围和皮层下白质病变[2]。CADASIL致病基因NOTCH3位于染色体19p13.2-13.1,大部分变异为错义突变,也有少部分为缺失、插入和剪切[3]。随着分子检测技术的进步和普及,越来越多的CADASIL家系经基因检测确诊[4-5]。本文分析了两个CADASIL家系NOTCH3基因突变情况,并对其临床特点进行了总结,报道如下。
文摘伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是成人最常见的遗传性脑小血管病。自CADASIL的致病基因NOTCH3被鉴定以来,大量CADASIL病例被报道,但迄今仍缺乏有效的治疗药物。本文针对CADASIL的疾病模型和致病机制、对症药物治疗及潜在治疗方案研究进展进行综述,以期为后续CADASIL发病机制和治疗研究提供参考。
文摘Autosomal dominant hereditary sensory neuropathy (HSN I) is a clinically and genetically heterogeneous group of disorders, and in some families it is due to mutations in the serine palmitoyltransferase (SPTLC1) gene. We have characterized two families with HSN I associated with cough and gastro-oesophageal reflux (GOR). From a large Australian family, 27 individuals and from a smaller family, 11 individuals provided clinical information and blood for genetic analysis. Affected individuals had an adult onset of paroxysmal cough, GOR and distal sensory loss. Cough could be triggered by noxious odours or by pressure in the external auditory canal (Arnold’s ear-cough reflex). Other features included throat clearing, hoarse voice, cough syncope and sensorineural hearing loss. Neurophysiological and pathological studies demonstrated a sensory axonal neuropathy. Gastric emptying studies were normal, and autonomic function and sweat tests were either normal or showed distal hypohidrosis. Cough was likely to be due to a combination of denervation hypersensitivity of the upper airways and oesophagus, and prominent GOR. Most affected individuals were shown on 24 h ambulatory oesophageal pH monitoring to have multiple episodes of GOR, closely temporally associated with coughing. Hoarse voice was probably attributable to acid-induced laryngeal damage, and there was no evidence of vocal cord palsy. No other cause for cough was found on most respiratory or otorhinological studies. Linkage to chromosome 3p22-p24 has been found in both families, with no evidence of linkage to loci for known HSN I, autosomal dominant hereditary motor and sensory neuropathy, hereditary GOR or triple A syndrome. These families represent a genetically novel variant of HSN I, with a distinctive cough owing to involvement of the upper aerodigestive tract.
