先天性肝纤维化伴Caroli病3例

先天性肝纤维与先天性肝内胆管护张症(又称Caroli病)是一组临床少见的常染色体隐性遗传性疾病,以儿童、青少年多发,临床常易漏诊、误诊,其病变常累及整个肝脏,且多与先天性肾囊肿等伴发.     

Caroli综合征二例

例 1　患者女 ,14岁 ,因反复呕血、黑便 6年入院。既往无肝炎病史 ,家族中无肝病史。体检 :发育正常 ,重度贫血貌 ,无肝病面容 ,皮肤巩膜无黄染 ,未见蜘蛛痣及肝掌。腹软 ,无腹壁静脉曲张 ,全腹无压痛 ,肝右肋下未及 ,剑突下 2ｃｍ ,质硬 ,无触痛 ,脾左肋下 4ｃｍ ,质硬 ,移动性浊音阴性。双下肢无水肿。血红蛋白 2 9ｇ/Ｌ ,白细胞 1.46× 10 9/Ｌ ,血小板 10 4× 10 9/Ｌ ,总胆红素 2 5 μｍｏｌ/Ｌ ,结合胆红素 11μｍｏｌ/Ｌ ,总蛋白 6 7ｇ/Ｌ ,白蛋白 43ｇ/Ｌ ,ＡＬＴ 8Ｕ/Ｌ ,ＡＳＴ 13Ｕ/Ｌ ,γ ＧＴ 13Ｕ/Ｌ ,胆汁酸 14μｍｏｌ/Ｌ ,…     

Caroli病合并急性黄疸型肝炎1例

病例:男,41岁,以"肝功能异常1月余,腹胀、尿黄2d"为主诉入院,患者入院前1月余体检发现肝功能异常:丙氨酸转氨酶(ALT)65U/L,天冬氨酸转氨酶(AST)88U/L,但自觉无不适,于外院就诊服用中药调理。2d前无明显诱因出现上腹胀、闷痛,尿色加深如浓茶样,无反酸、嗳气,无厌油,无恶心、呕吐,无腹泻,无发热、寒战,无咳嗽、胸闷、胸痛;ALT     

Caroli病24例临床分析

目的提高临床医师对Caroli病的认识。方法回顾性总结解放军总医院2005年1月至2010年10月24例Caroli病患者的一般资料、临床特点以及治疗方法。结果本组患者男女比例1∶2.4;平均发病年龄20.1岁;临床表现以上腹痛、发热、黄疸、消化道出血为主;胆管结石是最常见的合并症;影像学检查发现21例(87.5%)及胎儿1例;20例行外科手术治疗,其中肝移植2例,随访4个月至5年一般情况良好;2例行内镜下食管胃底静脉曲张硬化剂、组织胶治疗,分别随访3个月、1年无再发出血。结论Caroli病患者起病早,临床表现多样,诊断主要依靠临床表现、影像学检查,外科手术及内镜下治疗是有效的治疗方式。     

Ⅱ型Caroli病1例

病例：患者男,21岁,学生,因“呕血、黑便”于2008年11月26日入院。患者11年前曾有类似发作史,无明显诱因出现恶心、呕吐。呕吐物如咖啡样,内含少量食物,量约500ml,解黑色稀便2次（量不详）,伴头晕、心悸。于当地医院就诊．经B超等影像学检查诊断为“特发性门静脉高压合并上消化道出血”,行“门奇静脉断流＋脾切除术”,     

病理证实的症状、影像不典型的Caroli病1例

Caroli病是一种以非阻塞性肝内胆管扩张为特征的罕见先天性疾病。大多认为是常染色体隐性遗传病,但许多病例无法追寻典型的遗传家族史。Caroli病包括两种类型,简单型（称为Caroli病）和以先天性肝纤维化和/或多囊肾病为特征的Caroli综合征。认为PKHD1基因是Caroli病、Caroli综合征的致病基因。     

Caroli病合并阵发性睡眠性血红蛋白尿一例

患儿 5岁 ,男性。因“血尿、酱油色尿伴腹胀 1月”入院。 5月前无意间发现小便颜色变深 ,呈酱油色 ,且晨起时较重 ,无发热及面部浮肿 ,以肾炎服用激素治疗 1月余 ,症状有所好转。近1月来腹胀逐渐加重 ,伴消瘦 ,无下肢浮肿。查体 :贫血貌 ,发育正常 ,营养中等 ,无慢性肝病面容 ,眼睑无浮肿 ;皮肤及黏膜无黄染及出血点 ,可见典型肝掌 ,未见蜘蛛痣 ,心肺听诊无异常 ;蛙状腹 ,腹壁静脉显露 ,肝脏剑突下 3cm ,边缘钝 ,表面光滑 ,质地硬 ,无触压痛 ,脾脏肋缘下 4cm ,边缘钝 ,质地中等 ,无压痛 ,腹水大量。肾区无叩击痛 ;下肢无浮肿。血常规 :Hb 6…     

常染色体隐性遗传性多囊肾合并先天性肝纤维化一家系3例报告及文献复习

<正>常染色体隐性遗传性多囊肾(autosomal recessive polycystic kidney disease,ARPKD)是一种多发于儿童肾脏和胆道系统的严重单基因遗传病[1],以肝门静脉系统发育不全为特征,包括胆管板重塑缺陷、胆管增生和先天性肝纤维化(congenital hepatic fibrosis,CHF)[2-4]。ARPKD发病率为1∶20 000～40 000,属罕见病[5],合并CHF的发病率更低。本文将一家系(3姐弟)     

成人Caroli病Ⅱ型1例报告

<正>Caroli病为临床少见的一种先天性肝内胆管囊性扩张性疾病,临床常因缺乏特异症状易致漏诊误诊,近年来随着影像技术的提高,本病的确诊例数逐渐增多。为了提高对本病的全面、系统认识,做好与其他疾病的鉴别诊断,本文对我科收治的1例Caroli病患者临床资料、影像资料和病理资料进行收集,并结合文献进行分析报告。     

常染色体隐性遗传性多囊肾合并多囊肝1例报告

多囊肾是一种常见的单基因先天性遗传病,可以显性或隐性方式遗传[1]。其中,常染色体隐性遗传性多囊肾(autosomal recessive polycystic kidney disease,ARPKD)较为罕见,通常被认为是由PKHD1突变引起的遗传同质性疾病,与纤毛功能障碍有关,发病率约为1∶20000,多见于婴幼儿时期,存活至成人者极少[2],至今国内外仍少有报道。其特征在于肾集合管的非阻塞性梭形扩张和肝脏的导管板畸形,导致进行性慢性肾病和肝脏疾病,包括扩张的胆管、先天性肝纤维化和门静脉高压症(Caroli综合征)[3-5]。     

Novel homozygous nonsense mutation associated with Bardet–Biedl syndrome in fetuses with congenital renal malformation

Background:The Bardet–Biedl syndrome (BBS) is a rare autosomal recessive disorder, characterized by clinical and genetic heterogeneity. BBS is more commonly reported in adults and children than in fetuses. Here, a retrospective study on 210 fetuses with congenital renal malformation was conducted.Methods:The fetuses were diagnosed using invasive prenatal tests, including chromosome karyotype analysis, whole exome sequencing (WES), and single-nucleotide polymorphism array. We found the intrauterine phenotype of a fetus presenting enlarged kidneys, enhanced echo, and oligohydramnios; therefore, the fetus was characterized to have BBS.Results:Chromosome karyotype analysis presented normal results. Analysis using an Affymetrix CytoScan 750K array revealed 2 homozygous regions. However, WES revealed a homozygous mutation of c.1177C>T (p.Arg393*) on exon 12 of BBS1 and a heterozygous variation of c.2704G>A (p.Asp902Asn) on exon 22 of CC2D2A. The American College of Medical Genetics and Genomics guidelines identified c.1177C>T and c.2704G>A as a pathogenic mutation and of uncertain significance, respectively. Sanger sequencing identified heterozygous mutation, that is, c.1177C>T and heterozygous variation, that is, c.2704G>A in the parents of the fetus.Conclusions:WES identified a novel homozygous nonsense mutation c.1177C>T in BBS1 of a Chinese fetus with congenital renal malformation. This finding provides insight into the BBS1 mutations in Asian populations in general and shows the necessity of genetic counseling.     

Clinical characteristics and risk factors for kidney failure in patients with autosomal dominant polycystic kidney disease: A retrospective study

Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary and progressive renal disease. By the age of 65 years, 45% to 70% of patients with ADPKD reach end-stage renal disease (ESRD). Although there are various treatments for this condition, no standard therapy exists to delay the progression of ADPKD. Hence, understanding the factors that affect disease progression may be helpful for the treatment of ADPKD. The medical records of 288 patients with ADPKD at Keimyung University Dongsan Medical Center between January 1989 and August 2018 were analyzed retrospectively. Furthermore, we inspected the risk factors involved in the progression of ADPKD and the kidney survival rates of patients using the Cox proportional hazards model and Kaplan–Meier survival analysis. The mean age at the time of diagnosis was 43.1 ± 14.1 years, and there were 146 males (50.7%). In total, 197 patients (68.4%) had hypertension and 11 patients (3.8%) had cerebral aneurysm. Stroke occurred in 35 patients (12.1%), including 11 cases of cerebral hemorrhage and 24 cases of cerebral infarction. Twenty-eight patients (9.7%) died during the follow-up period (117.1 ± 102.1 months). Infection (42.9%) was the most common cause of mortality, followed by sudden cardiac death (25.0%). Overall, 132 patients (45.8%) progressed to ESRD and 104 patients (36.1%) required renal replacement therapy (RRT). The mean duration from diagnosis to RRT was 110.8 ± 93.9 months. Age at diagnosis after 30 years (odd’s ratio [OR], 2.737; 95% confidence interval [CI], 1.320–5.675; P = .007), baseline serum creatinine levels (OR, 1.326; 95% CI, 1.259–1.396; P < .001), and cyst infection (OR, 2.065; 95% CI, 1.242–3.433; P = .005) were the independent risk factors for kidney failure in multivariable analysis. To delay the advance of ADPKD to ESRD, early diagnosis and close observation for the onset of cyst infection are crucial.     

Laparoscopic findings of congenital hepatic fibrosis: A case report and review of the published work

A 33‐year‐old man visited a hospital after vomiting blood. Emergent esophagogastroduodenoscopy revealed the presence of varices in the lower esophagus. The patient did not have a past history of alcohol consumption and was negative for hepatitis B and C viruses. He was referred to our hospital for closer examination. Portal hypertension was detected by conventional imaging modalities, but signs of liver cirrhosis, thrombosis, stenosis, malformation of the portal vein and bile duct abnormalities were not observed. We performed laparoscopy‐guided liver biopsy to examine the cause of portal hypertension. In addition to prominent development of collateral vessels on hepatic ligaments and the omenta, marbled whitish markings with black‐green spots were dispersed over the liver surface, but nodular formation and lymphatic vesicles were not found. Biopsied specimen demonstrated severe dense fibrosis in portal areas and von Meyenburg complexes (vMC). Based on these findings, the diagnosis of congenital hepatic fibrosis (CHF) was made. Post‐biopsy hemostasis was confirmed under laparoscopy and no major complications occurred after biopsy. We reviewed 11 cases of CHF which had undergone laparoscopy in Japan, including our case. Marbled whitish markings, black‐green spots and collateral vessels were seen in 11, five and seven cases, respectively. When we encounter the patients having portal hypertension of unknown etiology, laparoscopy‐guided liver biopsy should be considered as a safe and useful diagnostic procedure. Black‐green spots in marbled whitish markings, which reflect vMC in broad fibrotic areas, are laparoscopic characteristics of CHF.     

Wells' syndrome associated with ulcerative colitis: a case report and literature review

Wells' syndrome, also termed eosinophilic cellulitis, is a dermatologic condition of unknown etiology that occurs as recurrent patches or plaques mimicking infectious cellulitis. Histopathology reveals an eosinophilic infiltrate and characteristic flame figures. Previous reports have associated this syndrome with parasitic infections, arthropod bites, pharmacologic agents, surgery, and hematologic disorders. We present a case report of a patient with Wells' syndrome associated with newly diagnosed ulcerative colitis. The dermatosis erupted concurrently with flares of ulcerative colitis. Furthermore, treatment of the ulcerative colitis led to resolution of the skin lesions. To our knowledge this describes the first association between inflammatory bowel disease and Wells' syndrome and argues for a distinct relationship between the two.     

Cerebellar syndrome associated with legionellosis: A case report and literature review

IntroductionLegionnaire's disease is a community-acquired pneumonia caused by the Gram-negative bacterium Legionella pneumophila. This disease is often associated with neurological symptoms, the clinical presentation of which can be very varied.Case reportWe report a 47-year-old female patient who developed Legionnaires’ disease with cerebellar symptoms (ataxia, dysarthria and hypermetria). Laboratory tests revealed a biological inflammatory syndrome. The cerebrospinal fluid was sterile. Urinary antigen test and serology were positive for L. pneumophila. An interstitial syndrome of the right upper lobe was detected on chest computed tomography (CT) scan. Brain imaging (magnetic resonance imaging and CT angiography) showed no abnormalities. The outcome was favourable after treatment with spiramycin, levofloxacin and corticosteroids.DiscussionFew cases only (n = 110) of Legionnaires’ disease with cerebellar symptoms have been reported in the literature. The pathogenic mechanism behind neurological dysfunction in patients with Legionnaires’ disease is unknown. Neurological symptoms improve with antibiotic therapy and corticosteroids. Extra-pulmonary forms of Legionnaires’ disease are frequent, with neurological symptoms being the most common symptoms. Cerebellar dysfunction may be underestimated and requires appropriate management with antibiotic therapy and corticosteroid therapy. Recommendations for the management of Legionnaire's disease with severe extra-pulmonary symptoms are needed.