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肾脏囊性病变是多病源引起的一组疾病,随着影像学设备的发展,这组疾病早期即可被检出,甚至在胎儿期即可确诊。影像学检查在小儿肾脏囊性病变的诊断中起着不可忽视的作用。肾脏囊性病变可分为遗传性和获得性,其共同特点为肾脏出现被覆上皮细胞的囊肿。可见于任何年龄,可单发或多发。肾脏囊性病变主要包括以下几种:常染色体隐性遗传性多囊肾;常染色体显性遗传性多囊肾;单纯性肾囊肿;肾盂旁囊肿;多囊性发育不良肾;多房囊性肾瘤;肾旁淋巴囊肿;肾盂肾盏憩室;肾盂旁淋巴管扩张症;肾髓质囊肿形成疾病;其他疾病所致多发肾囊肿等。1常染色体隐性遗传…     

小儿囊肿性肾病47例

目的探讨小儿囊肿性肾病的常见病因及其临床特点。方法本院1995年1月～2006年12月共收治47例囊肿性肾病患儿。男31例,女16例;诊断时年龄1h～14岁;回顾分析其病因和临床特点。结果遗传性21例（44.68%）。包括常染色体隐性遗传多囊肾病（ARPKD）16例（34.04%）,肾单位肾痨（NPH）5例（10.64%）;发育异常24例（51.07%）。包括髓质海绵肾（MSK）13例（27.66%）,囊肿性肾发育不良（CRD）10例（21.28%）及孤立多房性肾囊肿（SMC）1例（2.13%）;获得性2例（4.25%）,均为单纯性肾囊肿（SRC）。16例ARPKD囊肿分布于皮质和髓质,肾衰竭12例（75%）,肾脏外损害9例（56.25%）。5例NPH囊肿分布于皮髓质交界处,肾衰竭5例（100%）,缺血性视网膜炎致盲1例（20%）。13例MSK囊肿局限于肾锥体,各有3例（23.08%）表现为继发性肾结石、泌尿系感染（UTI）和远端肾小管酸中毒,另2例（15.38%）表现为继发性肾积水,肾衰竭2例（15.38%）与病程长、结石并反复感染有关。10例CRD均为单肾囊性变,表现为腹部包块7例（70%）,宫内诊断5例（50%）。SRC2例和SMC1例均为局灶性肾囊肿,仅表现为腹部包块,手术切除后痊愈。结论小儿囊肿性肾病以遗传性及发育异常性疾病为主,常见病因有ARPKD、NPH、MSK和CRD;ARPKD和NPH为进行性肾衰竭或肾外病变,预后差;MSK和CRD属肾脏发育异常,尽早诊断和治疗,预后好。     

继发性肾小球疾病诊疗进展

继发性肾小球疾病包括一相当广泛的范围 ,如继发于全身系统性疾病 (如狼疮性肾炎、紫癜性肾炎、全身性感染时肾小球损伤、寄生虫肾病等 )、血液及血管性疾病 (如肾小球栓塞 )、代谢性疾病 (如糖尿病肾病 )、遗传性肾病 (如Alport综合征 )以及近年引起重视的儿童肥胖相关肾病等 ,其总发病率尚不确切。目前在中国儿童肾小球疾病中最常见的继发性肾小球疾病为乙肝病毒相关性肾炎、紫癜性肾炎和狼疮性肾炎。 1996年全国 2 0个医院 2 315例肾活检资料分析中 ,上述 3类分别占到总体的 8.7%、8.4 %和 2 .8% ,相信随着肾活检术的普遍开展 ,上述比例…     

致心律失常性右室心肌病

致心律失常性右室心肌病(ARVC)旧称致心律失常性右室发育不良,又称为右心室扩张型心肌病、右心室壁瘤、羊皮纸样心脏,是一种遗传性心肌病,以右心室功能障碍和室性心律失常为特征,右心室心肌细胞常被脂肪或纤维脂肪组织替代.ARVC主要为常染色体显性遗传,外显率不一,临床表现轻重悬殊,多数病例死亡时年龄＜40 岁,有些发生于儿童,本病是青年期猝死的重要原因.虽然儿童ARVC的猝死和严重心力衰竭发生并不多见,但早期诊断ARVC有利于对患儿进行风险评估,指导早期治疗,提高生活质量,预防猝死,降低病死率.     

肥胖相关性肾病的诊断

随着经济的快速发展及人们生活方式的改变,儿童及成人肥胖症发病率逐年上升,肥胖相关性肾病(ORG)日趋增多。ORG诊断首先要具备肥胖体征,但应注意国际、国内诊断成人肥胖的体质量指数(BMI)标准不同,儿童青少年更应根据不同年龄、性别的BMI分类标准作出判断。其次肾脏病理为肥胖相关的局灶节段性肾小球硬化伴肾小球肥大;或单纯肥胖相关肾小球肥大。结合出现蛋白尿伴或不伴镜下血尿等肾脏受累表现,除外糖尿病肾病、高血压性肾病、先天性肾发育不良等疾病可作出诊断。     

以肾病为主要表现的窒息性胸廓发育不良1例

窒息性胸廓发育不良（asphyximing thoracic dystrophy，ATD），又称Jeune综合征为一种罕见的常染色体隐性遗传疾病，表现为特征性骨发育异常，常伴有肺、肝、肾、胰腺或视网膜等多系统的发育与功能异常。大多数患儿因胸廓发育不良导致呼吸困难和反复呼吸道感染，严重者生后数周内死亡。国内、外文献报道的病例多以呼吸道症状为主要表现；以肾病为首要表现的病例在国内尚未见报道。由于国内儿科对该病仍缺乏认识，误诊及漏诊率较高。我院收治了以肾病为主要表现的Jeune综合征患儿1例，现报道如下。     

儿童支气管扩张的病因及早期诊治策略

囊性纤维化(Cystic fibrosis,CF)是一种常染色体隐性遗传性疾病,它是引起白种人儿童支气管扩张(bronchiectasis)的主要原因.而非囊性纤维化支气管扩张(non-cystic fibrosis bronchiectasis)常见于发展中国家,以前认为它主要见于慢性化脓性炎症,表现为支气管不可逆的扩张伴有管壁增厚及破坏.随着高分辨率CT(HRCT)技术的发展,结合近年来大量的研究结果显示,非囊性纤维化支气管扩张在发达国家的诊断率也不断增多.     

婴儿型多囊肾病变11例临床及病理分析

婴儿型多囊肾病变是一种常染色体隐性遗传性疾病,其遗传特点是杂合子为携带者,纯合子为患者,发病者多为同胞,患者父母及子女极少发病.因常无明显的临床表现,较难早期做出诊断.现将我院30年经手术及尸检证实的11例婴儿型多囊肾总结报道如下.     

多囊性肾发育不良

患儿 ,男 ,2月 ,因产前B超发现右侧肾囊肿入院。体检 :一般情况可 ,腹部检查未及肿块。实验室检查肝、肾功能正常。CT表现 :平扫 (见图1) :右侧肾区正常肾影消失 ,取而代之的是多发的大小不一的异常低密度灶 ,其中夹杂不规则等密度灶。其边界显示清楚。增强(见图2) :低密度病灶未见明显强化 ,提示囊性改变 ,等密度病灶有中度强化。左侧肾脏略增大 ,未见明显异常密度灶。CT诊断 :右侧多囊性肾发育不良或多囊性肾瘤。病理所见 :右肾结构紊乱 ,多房性囊肿形成。囊肿周围结缔组织中见少量软骨组织。病理诊断 :右侧先天性多囊性肾发育不良。讨…     

儿童遗传性息肉的内镜微创治疗

儿童遗传性息肉多属于罕见的常染色体显性疾病，与肠内外良恶性肿瘤的风险增加有关。基于临床及内镜下表现，儿童遗传性息肉大多可以确诊，在某些情况下，需进行基因检测协助诊断。该病一经确诊大多需要切除，术前影像学检查至关重要，不仅可以指导如何选择治疗方式，而且可减少漏诊和误诊。切除方法因息肉形态、大小及部位不同而不同。一旦影像学及内镜检查发现遗传性息肉，应每2~3年重复检查1次，有临床症状出现时应及时复查胃肠镜。     

Polycystic kidney disease and other genetic kidney disorders

Cystic kidney diseases encompass a range of genetic disorders in which the primary cilia of the cells are affected and thereby cysts form as a result. There are an increasing range of cystic renal diseases recognized due to the advances in genomics. The most common genetic kidney condition is autosomal dominant polycystic kidney disease (ADPKD). ADPKD leads to renal failure in adulthood. In children, hypertension is common and if treated, may slow down renal decline. The most common cystic kidney disease causing renal failure in children is autosomal recessive polycystic kidney disease (ARPKD). ARPKD also affects the liver. These conditions often have extra-renal features which also need to be addressed. Until recently, treatments were mainly supportive but now it is possible to slow down development of cyst formation and renal decline in ADPKD. This raises hope for treatment for other cystic renal conditions as more genes are identified and underlying mechanisms defined.     

Autosomal dominant polycystic kidney disease in infancy

We report on a 6 months old infant with suddenly developed severe arterial hypertension caused by polycystic kidneys. Examinations of the relatives revealed similar changes of the kidneys in 4 adults and 5 children. They were all diagnosed to have autosomal dominant polycystic kidney disease. Excretory kidney function of all patients is normal; however, blood pressure was raised in the adults. We would like to stress the importance of family screening in this disease, in particular with regard to possible early diagnosis and treatment of arterial hypertension. The long-term prognosis of the early manifestation of the dominantly inherited cystic kidney disease is uncertain.     

Sonographically detectable cysts in polycystic kidney disease in newborn and young infants

Autosomal dominant (adult type) and autosomal recessive (infantile type) polycystic kidney disease are 2 distinct forms of hereditary cystic renal disease with differing pathologic and clinical features. Glomerulocystic kidney disease is probably a separate entity, whose pathologic features may closely resemble those of autosomal dominant polycystic kidney disease, especially in small infants. An example of each of these conditions in a small infant is presented, all of which had sonographically detectable cysts. Pathologic correlation was available in each case. While there are typical sonographic features of autosomal dominant and autosomal recessive polycystic kidney disease in newborn and young infants, there is no specific appearance of either condition, and glomerulocystic kidney disease can apparently resemble either one. Other investigations, particularly family studies and pathologic verification, are important in order to establish the correct diagnosis.     

Renal cystic disease: new insights for the clinician

This article cannot comprehensively cover the enormous strides made in defining the molecular and cellular basis of renal cystic diseases over the last decade. Therefore, it provides a brief overview and categorization of inherited, developmental, and acquired renal cystic diseases, providing a relevant, up-to-date bibliography as well as a useful list of informative Internet Web sites. Its major focus is the translational biology of polycystic kidney disease. It demonstrates how emerging molecular and cellular knowledge of the pathophysiology of particular diseases such as autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ADPKD) can translate into innovative therapeutic insights.     

Nephrocalcinosis in a child with autosomal dominant polycystic kidney disease and a prolapsing ectopic ureterocele

Although autosomal dominant polycystic kidney disease commonly presents in adults, it can occur in children. Usually, renal calcification in patients with autosomal dominant polycystic kidney disease is manifested as calculi or as hemorrhage into a renal cyst. An ectopic ureterocele is a well-known finding in patients with renal duplication. To our knowledge, this is the first case report of a child who had combined findings of autosomal dominant polycystic kidney disease, nephrocalcinosis, and an obstructing ectopic ureterocele.     

Polycystic kidney disease in children

Polycystic renal diseases in children include 2 pathologically and genetically distinct diseases: autosomal recessive polycystic kidney disease (ARPKD), incorrectly called the "infantile form", characterized by a constant hepato-renal involvement, and autosomal dominant polycystic kidney disease, often termed the "adult form", which is more and more frequently detected in children as a result of advances in renal imaging techniques. The differential diagnosis is not based on age at discovery, clinical symptoms or renal imaging, which may all be similar in the 2 diseases, but on the presence, detected by either pathology or ultrasonography, of the biliary dysgenesis specific to ARPKD, and mainly on the mode of inheritance, confirmed by the results of ultrasonography in parents and grandparents.     

Morphometric Studies of Cystic and Tubulointerstitial Kidney Diseases with Hepatic Fibrosis in Children

Portal tract fibrosis with biliary ductular enlargement or proliferation occurs in a number of genetic diseases that have cystic or tubulointerstitial renal lesions. These include some with renal cystic disease such as autosomal recessive diseases (e.g., infantile polycystic disease, juvenile polycystic disease, and Meckel's syndrome), autosomal dominant diseases (e.g., adult polycystic disease), and, rarely, tuberose sclerosis and dominant glomerulocystic disease. Portal tract fibrosis with biliary enlargement and proliferation occurs also with tubulointerstitial kidney diseases. These probably include at least three disorders in the category nephronophthisis-congenital hepatic fibrosis (one autosomal recessive disease and two either autosomal or X-linked recessive diseases) plus Jeune's syndrome (the tubulointerstitial diseases Fanconi's familial nephronophthisis and anti-tubular membrane antibody disease do not regularly cause hepatic fibrosis). Morphometric data on ratios of bile ductules to connective tissue in hepatic portal tracts show high values for infantile polycystic disease (mean, 0.616) compared to lower values for juvenile polycystic disease (mean, 0.286). That the cystic renal lesions of the first two diseases differ in type and time course is known. Similar data on ratios of glomeruli plus tubules to connective tissue in renal cortices and of tubules to connective tissue in outer medullary zones of kidneys, respectively, are as follows: for Fanconi's nephronophthisis, 0.445 and 0.197; for anti-tubular basement membrane antibody disease, 0.585 and 0.164; and for the three types of nephronophthisis-congenital hepatic fibrosis studied, 0.668 and 0.446, 1.39 and 0.921, and 1.18 and 0.12. These data support clinical impressions that the category nephrophthisis-congenital hepatic fibrosis includes more than one disease entity.     

Cystic renal involvement in tuberous sclerosis

We describe two cases of unusual presentation of tuberous sclerosis with cystic renal involvement. A 19-month-old white male who was initially misdiagnosed as having polycystic kidney disease of "adult-type" developed petit mal seizures and small "ash-leaf" depigmented areas, raising a suspicion of tuberous sclerosis. Computerized tomography (CT) of the brain revealed periventricular calcifications, confirming the diagnosis of tuberous sclerosis. A 15 3/4-year-old black female with tuberous sclerosis showed acceleration of renal failure. Computerized tomography scan of the abdomen showed cystic lesions of the kidneys. In young children with cystic renal involvement but a negative family history of tuberous sclerosis or polycystic kidney disease, a CT scan of the brain should assist in the diagnosis. A CT scan or ultrasound examination of the abdomen will differentiate cystic renal lesions from angiomyolipoma of the kidneys.     

Morphometric studies of cystic and tubulointerstitial kidney diseases with hepatic fibrosis in children

Portal tract fibrosis with biliary ductular enlargement or proliferation occurs in a number of genetic diseases that have cystic or tubulointerstitial renal lesions. These include some with renal cystic disease such as autosomal recessive diseases (e.g., infantile polycystic disease, juvenile polycystic disease, and Meckel's syndrome), autosomal dominant diseases (e.g., adult polycystic disease) and, rarely, tuberose sclerosis and dominant glomerulocystic disease. Portal tract fibrosis with biliary enlargement and proliferation occurs also with tubulointerstitial kidney diseases. These probably include at least three disorders in the category nephronophthisis-congenital hepatic fibrosis (one autosomal recessive disease and two either autosomal or X-linked recessive diseases) plus Jeune's syndrome (the tubulointerstitial diseases Fanconi's familial nephronophthisis and anti-tubular membrane antibody disease do not regularly cause hepatic fibrosis). Morphometric data on ratios of bile ductules to connective tissue in hepatic portal tracts show high values for infantile polycystic disease (mean, 0.616) compared to lower values for juvenile polycystic disease (mean, 0.286). That the cystic renal lesions of the first two diseases differ in type and time course is known. Similar data on ratios of glomeruli plus tubules to connective tissue in renal cortices and of tubules to connective tissue in outer medullary zones of kidneys, respectively, are as follows: for Fanconi's nephronophthisis, 0.445 and 0.197; for anti-tubular basement membrane antibody disease, 0.585 and 0.164; and for the three types of nephronophthisis-congenital hepatic fibrosis studied, 0.668 and 0.446, 1.39 and 0.921, and 1.18 and 0.12. These data support clinical impressions that the category nephrophthisis-congenital hepatic fibrosis includes more than one disease entity.     

Alagille's syndrome associated with cystic renal disease

Although renal abnormalities have been described in children with Alagille's syndrome, cystic kidney disease has not often been documented, and then usually only at necropsy. Three children with Alagille's syndrome are described, in two of whom a unilateral multicystic dysplastic kidney was detected by prenatal ultrasound; in the other, a solitary cortical cyst was found later in childhood. All have normal renal function, growth, and liver synthetic function but continue to have clinical and biochemical signs of cholestasis. These cases show that unilateral cystic kidney disease with or without renal dysplasia may be associated with Alagille's syndrome, that the clinical course is not necessarily unfavourable, and that Alagille's syndrome should be included in the differential diagnosis of cystic kidney disorders associated with cholestatic liver disease. Patients with Alagille's syndrome should be evaluated by renal ultrasound.