肾髓质囊性疾病

肾髓质囊性疾病中国协和医科大学北京协和医院肾内科（１００７３０）毕增祺，薄玉红典型的肾髓质囊性疾病包括肾非结核性肾髓质囊性联合征（ＮＣＲＭＣ）和髓质海绵肾。ＮＣＲＭＣ本病特点是肾硬化、肾功能衰竭和肾髓质囊肿，现报道已有数百例病人，在儿童肾功能衰竭的病...     

三维超声在肾综合征出血热诊断中的应用

目的对肾综合征出血热(HFRS)伴有急性肾功能不全病程中肾锥体行三维立体成像，以评价其临床应用价值。方法采用三维动态成像检测45例经血清学证实HFRS抗体阳性患伴有急性肾功能衰竭及30例无肾功不全行双肾三维立体成像。结果无肾功不全肾锥体未能获得满意三维立体图像，而伴有急性肾功能衰竭的HFRS通过三维重建后，肾锥体扩大，清晰、可见，呈蜂窝样改变，并对肾皮质产生压迹。结论三维超声显像能直观形象地显示了扩大的肾锥体。     

海绵肾的超声表现及特点

目的分析海绵肾的声像图表现特点,提高对该病的认识。方法收集经静脉肾盂造影或CT证实的海绵肾12例,对其进行回顾性分析。所有病例均行双肾的超声检查。结果11例表现为双侧肾脏髓质的病变,1例表现为单侧肾脏髓质的病变,病变的髓质均显示其回声有明显的增强。有10例肾髓质表现为边缘较毛糙的强回声团。有2例在增强的部分髓质中可见到细小的筛状结构。结论海绵肾声像图具有其表现特征,超声是诊断海绵肾的一种有价值的检查方法。     

彩色多普勒超声诊断移植肾假性动脉瘤1例

患者,女性,53岁,因慢性肾功能不全尿毒症行同种异体肾移植,术中顺利。术后45d彩超检查,移植肾大小、形态及肾内结构正常,皮髓质分界清晰,彩色血流显示移植肾内血流充盈不良,血流显示稀疏,各级肾动脉收缩期流速降低,阻力指数异常降低,怀疑有肾动脉狭窄,经反复检查,各级肾动脉(包     

成人型Xp11.2易位/TFE3基因融合相关性肾癌CT诊断价值分析

目的：探讨成人型Xp11.2易位/TFE3基因融合相关性肾癌临床表现及影像学特征。方法：回顾性分析23例成人型Xp11.2易位/TFE3基因融合相关性肾癌患者的临床资料、CT特征、病理表现及术后随访信息。所有患者均行CT平扫及增强扫描。结果：23例患者病灶均单发，9例位于右肾，14例位于左肾。其中，仅累及皮质或髓质的病灶各2例，余19例病灶皮髓质均累及。16例病灶边缘可见假包膜，其中9例假包膜连续性中断。CT平扫19例病灶表现为稍高密度，3例表现为等密度，1例表现为稍低密度。其中4例病灶可见囊变、坏死区；2例可见出血；12例伴有钙化灶，钙化分布无规律，形态多样。没有病灶内部可见明确脂肪成分。CT增强扫描病灶实性成分表现为中度强化，实质期达到强化峰值。结论：成人型Xp11.2易位/TFE3基因融合相关性肾癌CT表现具有一定特征，充分认识本病灶CT表现，有助于提高术前诊断准确性。     

多发性骨髓瘤肾损害临床分析

【目的】探讨多发性骨髓瘤肾损害临床特征及相关因素,减少误诊、漏诊。【方法】对29例多发性骨髓瘤患者肾损害临床表现及实验室指标进行统计学分析。【结果】尿本一周氏蛋白、贫血、血β2-微球蛋白、骨损害等与肾功能不全有相关关系。【结论】多发性骨髓瘤肾损害表现多样,以慢性肾功能不全多见,对伴有贫血、骨痛、感染、高球蛋白血症、高钙血症等症状患者,要进一步检查,以减少误诊、漏诊。     

囊性肾细胞癌的CT诊断与手术及病理对照

目的：分析囊性肾癌的CT表现,探讨CT对囊性肾癌的诊断价值。方法：对手术、病理证实的17例囊性肾癌的CT表现进行回顾性分析。结果：17例囊性肾癌包括10例多房囊性肾细胞癌、3例单房囊性肾癌、3例透明细胞癌囊变坏死及1例单纯囊肿癌变。17例囊性肾癌中,CT诊断正确15例;1例单纯囊肿癌变,CT诊断为单纯囊肿;1例多房囊性肾细胞癌,CT诊断为复杂囊肿。典型的囊性肾癌CT表现为肾实质内单房或多房囊性肿物,具有厚薄不均匀的囊壁,内壁凹凸不平,囊壁不均匀强化,伴有强化的壁结节或实性成分,部分病例囊壁伴有钙化。结论：CT对囊性肾癌的诊断具有较大优势,对大部分肿块能准确诊断。     

髓质海绵肾的影像及临床分析

目的：比较各种影像学检查对髓质海绵肾的临床价值。方法：分析12例髓质海绵肾的影像表现。其中8例行B超检查，7例行腹部平片、IVP和CT检查，2例行MRI检查。并进行文献复习。结果：（1）髓质海绵肾主要临床表现为肾小结石及血尿；（2）腹部平片显示双肾区小斑点状高密度；（3）静脉肾盂造影或CT显示肾锥体集合管扩张，充孟造影剂，呈小囊状，内可有小结石。结论：髓质海绵肾具有特征性影像学表现，CT较IVP更敏感发现肾锥体内细小结石及早期的肾集合管扩张，是诊断本病的首选检查方法。     

肾功能不全在IgA肾病中的意义

目的观察肾功能不全在IgA肾病中的意义。方法将78例IgA肾病分为观察组(伴有肾功能不全)及对照组(不伴有肾功能不全),并对两组的临床病理进行分析。结果观察组临床表现为慢性肾小球肾炎和急进性肾炎较对照组明显多见,对照组临床表现为急性肾炎综合征和无症状血尿/尿检异常较观察组明显多见。观察组的病理类型以膜增殖性肾小球肾炎、新月体肾炎较对照组明显多见。观察组系膜增生程度较对照组重,观察组的肾小球节段硬化、肾小球硬化≥20%、肾小动脉增厚、新月体形成、肾间质纤维化、血管袢纤维素样坏死、血管洋葱皮样改变较对照组明显增多。结论临床表现为急进性肾小球肾炎及慢性肾小球肾炎的IgA肾病易伴有肾功能不全,建议积极行肾活检。伴有肾功能不全的IgA肾病的病理类型较差,建议早期行肾活检,肾功能不全与IgA肾病的预后呈相关关系。     

囊性肾癌的CT影像学特征

目的：分析囊性肾癌（CRCC）的CT影像学特征，提高囊性肾癌的术前正确诊断率。方法：对1995～2004年收治的20例CRCC的CT影像学特征进行回顾性分析。结果：20例CRCC中，术前CT影像学检查提示复杂性囊肿18例．单纯性囊肿2例。囊肿位于左肾9例，右肾11例。直径2.0-11.0cm，复杂性囊肿多表现为囊壁及不规则增厚及囊壁结节．增强后有强化。结论：CRCC有其独特的CT影像学特征，CT在CRCC的诊断中有很高的价值．     

Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins

Juvenile nephronophthisis has been recognized recently as an important cause of chronic renal failure in childhood and adolescence. This report describes clinical and morphological findings in monozygotic twins in whom the triad of juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia coexisted. The findings are discussed in relation to previous reports of nephronophthisis associated with either retinal abnormalities or congenital hepatic fibrosis. The occurrence of similar ocular and hepatic anomalies with the other cystic kidney diseases, polycystic disease and medullary sponge kidney disease is reviewed. A spectrum of oculo-hepato-renal syndromes is identified with many interrelated features which suggest a shared basic aetiology.     

Juvenile Nephronophthisis, Congenital Hepatic Fibrosis and Retinal Hypoplasia in Twins

Juvenile nephronophthisis has been recognized recently as animportant cause of chronic renal failure in childhood and adolescence.This report describes clinical and morphological findings inmonozygotic twins in whom the triad of juvenile nephronophthisis,congenital hepatic fibrosis and retinal hypoplasia coexisted.The findings are discussed in relation to previous reports ofnephronophthisis associated with either retinal abnormalitiesor congenital hepatic fibrobsis. The concurrence of similarocular and hepatic anomalies with the other cystic kidney diseases,polycystic disease and medullary sponge kidney disease is reviewedA spectrum of oculo-hepato-renal syndromes is identified withmany interrelated features which suggest a shared basic actiology.     

Familial juvenile nephronophthisis--a cause of chronic renal failure in childhood

Familial juvenile nephronophthisis (FJN) represents an important cause of chronic renal insufficiency in the first two decades of life. Its frequency is reported to vary between 7 and 20% of all cases of terminal renal failure in childhood. Usually the onset is insidious, with polyuria, polydipsia and anaemia being the main clinical features. The diagnosis is based on clinical, laboratory and pathological findings. The purpose of our report is to emphasize the importance of this pathological entity with respect to the clinical symptoms and signs and diagnostic approach on the basis of the case reports of four patients.     

Renal cystic diseases as a ciliopathy

Renal cystic disease is characterized by expansion of renal tubules. Abnormal cell proliferation and randomly oriented cell division angle are thought to induce cystic changes in renal tubules. Recent advancements have identified many of causative genes. Interestingly, those gene products are localized in cilia or centriole, suggesting that cilia have some role to control tubular diameter. Several systemic syndromes accompany renal cystic diseases, particularly nephronophthisis. To identify nephronophthisis related pathway will be a clue to understand mechanisms to develop not only renal cysts but also phenotypes associated with ciliopathies.     

Beyond renal cell carcinoma: rare and unusual renal masses

The vast majority of primary renal masses represent clear cell or papillary renal cell carcinomas, angiomyolipomas, or transitional cell carcinomas. However, a number of more rare masses can also be encountered, many of which can be very difficult to differentiate from these more common entities based on their imaging features. These uncommon entities include metanephric adenoma, epithelioid angiomyolipoma, medullary renal cell carcinomas, multilocular cystic nephroma, hemangiopericytoma, hemangioma, leiomyoma, leiomyosarcoma, solitary fibrous tumor, renal plasmacytomas, and mixed epithelial and stromal tumors. In some cases, certain clinical and imaging features can allow one of these unusual entities to be placed in the differential diagnosis, including patient age, degree of tumor enhancement, presence of underlying sickle cell trait or sickle cell disease, the presence of a cystic component to the tumor, and tumor morphology. Even if a radiologist is unable to make a specific diagnosis, knowledge of these entities is important, as it allows radiologists to guide post-surgical follow-up, as well to understand the most common sites of metastatic disease.     

Localized cystic disease of the kidney: CT findings

Background: We assessed the clinical and computed tomographic (CT) features of localized cystic disease of the kidney and how these features differentiate this disease from other renal cystic diseases. Methods: Medical records and CT scans of seven patients with localized cystic disease were reviewed retrospectively. Pathologic confirmation in five patients was done by surgery. The subjects consisted of four males and three females, with an age range of 29–74 years. Results: Localized cystic disease in five patients was an incidental finding. Clinical presentations in the other two patients included dark urine color, palpable flank mass, and generalized weakness. There was no patient with impairment of renal function associated with renal cystic disease. Six patients had cystic renal lesions in the left kidneys, and one patient had lesions in the right kidney. Six patients had cysts in a localized area in the affected kidney, and the remaining patient had diffuse involvement of the entire kidney. The upper pole was most frequently involved. CT appearance was characterized by multiple, variable size cysts conglomerated to islets of cysts that were separated by the normal renal parenchymal band. Conclusion: Localized cystic disease of the kidney has characteristic CT findings that distinguish it from other renal cystic diseases, making follow-up without surgical intervention possible.     

Book reviews

Background: We assessed the clinical and computed tomographic (CT) features of localized cystic disease of the kidney and how these features differentiate this disease from other renal cystic diseases. Methods: Medical records and CT scans of seven patients with localized cystic disease were reviewed retrospectively. Pathologic confirmation in five patients was done by surgery. The subjects consisted of four males and three females, with an age range of 29–74 years. Results: Localized cystic disease in five patients was an incidental finding. Clinical presentations in the other two patients included dark urine color, palpable flank mass, and generalized weakness. There was no patient with impairment of renal function associated with renal cystic disease. Six patients had cystic renal lesions in the left kidneys, and one patient had lesions in the right kidney. Six patients had cysts in a localized area in the affected kidney, and the remaining patient had diffuse involvement of the entire kidney. The upper pole was most frequently involved. CT appearance was characterized by multiple, variable size cysts conglomerated to islets of cysts that were separated by the normal renal parenchymal band. Conclusion: Localized cystic disease of the kidney has characteristic CT findings that distinguish it from other renal cystic diseases, making follow-up without surgical intervention possible.     

Acquired polycystic degeneration of the kidneys

Kidneys of patients with advanced renal insufficiency undergo polycystic transformation, described as acquired cystic degeneration (ACD). In 118 chronic dialysis patients clinical data were compared with sonographic findings of their 221 cirrhotic kidneys: 74 (63%) patients showed distinctly discernible renal cysts: 19 patients hat one single cyst, nine patients had two to eight cysts, 46 patients had more than eight cysts. Accordingly 39% of patients had ACD. Cystic transformation was of the same degree on both sides and in a few cases so marked that a formal discrimination to congenital cystic disease seemed impossible. Cystic degeneration was not influenced by patient's age, sex or underlying renal disease, but was dependent on the duration of both, renal disease and dialysis treatment. After eight years 71% of dialysis patients had ACD. In coincidence with cystic transformation the size of the kidneys apparently normalized and Hb-concentration rose from 8 to 10 g/dl. Complications were seen in six patients: two severe retroperitoneal bleedings and four hypernephroma were observed. The etiology of cystic transformation and its possible role as precancerosis are discussed.     

髓质海绵肾结石

髓质海绵肾是一种肾脏发育异常性疾病,表现为肾钙质沉着或肾结石、尿酸化和浓缩功能失常、髓质集合管囊状病变及尿路感染和肾功能衰竭。其中肾脏结石是海绵肾重要的临床表现之一,但由于肾结石发生部位主要在髓质集合管,容易被泌尿外科医生忽视而误诊漏诊。本文通过文献复习结合我们在诊治海绵肾结石方面的经验,探讨了海绵肾结石诊断和治疗现状,以及海绵肾结石发生机制的研究方向。     

Sonographic evaluation of the nonfunctioning kidney.

The results of B-mode ultrasound examinations in 113 consecutive patients with unilateral renal nonfunction or severe azotemia were reviewed. The causes of nonfunction included the following: hydronephrosis; renal parenchymal disease; renal agenesis; atrophy or dysplasia; multicystic, medullary cystic, and polycystic kidneys; renal arterial or venous occlusive disease; extensively infiltrating neoplasm. The sonographic findings were consistent with the final diagnosis in 92 percent of the cases. A coronal view of the kidney for diagnosing hydronephrosis is described. This view demonstrates the dilated calyces in continuity with the renal pelvis and, when combined with transverse views, improves the reliability of the sonographic diagnosis of hydronephrosis. In cases where the renal landmarks appear totally normal, obstruction can be excluded as a cause of nonfunction, and retrograde pyelography may be avoided. The sonographic manifestations of other parenchymal abnormalities associated with nonfunction, such as cystic renal disease, glomerulonephritis, and renal transplant rejection, are also discussed.