Unique interstitial miRNA signature drives fibrosis in a murine model of autosomal dominant polycystic kidney disease

AIM To delineate changes in miRNA expression localized to the peri-cystic local microenvironment(PLM) in an orthologous mouse model of autosomal dominant polycystic kidney disease(ADPKD)(mcwPkd1^(nl/nl)).METHODS We profiled miRNA expression in the whole kidney and laser captured microdissection(LCM) samples from PLM in mcwPkd1^(nl/nl)kidneys with Qiagen miScript 384 HC miRNA PCR arrays. The three times points used are:(1) post-natal(PN) day 21, before the development of trichrome-positive areas;(2) PN28, the earliest sign of trichrome staining; and(3) PN42 following the development of progressive fibrosis. PN21 served as appropriate controls and as the reference time point for comparison of miRNA expression profiles.RESULTS LCM samples revealed three temporally upregulated miRNAs [2 to 2.75-fold at PN28 and 2.5 to 4-fold(P ≤ 0.05) at PN42] and four temporally downregulated miRNAs [2 to 2.75 fold at PN28 and 2.75 to 5-fold(P ≤ 0.05) at PN42]. Expression of twenty-six miRNAs showed no change until PN42 [six decreased(2.25 to 3.5-fold)(P ≤ 0.05) and 20 increased(2 to 4-fold)(P ≤ 0.05)]. Many critical miRNA changes seen in the LCM samples from PLM were not seen in the contralateral whole kidney.CONCLUSION Precise sampling with LCM identifies miRNA changes that occur with the initiation and progression of renal interstitial fibrosis(RIF). Identification of the target proteins regulated by these miRNAs will provide new insight into the process of fibrosis and identify unique therapeutic targets to prevent or slow the development and progression of RIF in ADPKD.

Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract

Congenital abnormalities of the kidney and urinary tract(CAKUT) include a wide range of abnormalities ranging from asymptomatic ectopic kidneys to life threatening renal agenesis(bilateral). Many of them are detected in the antenatal or immediate postnatal with a significant proportion identified in the adult population with varying degree of severity. CAKUT can be classified on embryological basis in to abnormalities in the renal parenchymal development, aberrant embryonic migration and abnormalities of the collecting system. Renal parenchymal abnormalities include multi cystic dysplastic kidneys, renal hypoplasia, number(agenesis or supernumerary), shape and cystic renal diseases. Aberrant embryonic migration encompasses abnormal location and fusion anomalies. Collecting system abnormalities include duplex kidneys and Pelvi ureteric junction obstruction. Ultrasonography(US) is typically the first imaging performed as it is easily available, noninvasive and radiation free used both antenatally and postnatally. Computed tomography(CT) and magnetic resonance imaging(MRI) are useful to confirm the ultrasound detected abnormality, detection of complex malformations, demonstration of collecting system and vascular anatomy and more importantly for early detection of complications like renal calculi, infection and malignancies. As CAKUT are one of the leading causes of end stage renal disease, it is important for the radiologists to be familiar with the varying imaging appearances of CAKUT on US, CT and MRI, thereby helping in prompt diagnosis and optimal management.

A rare case of renal hydatidosis in a child with congenital solitary kidney

Hydatid cyst of a solitary congenital kidney is a rare entity because of the small percentage of cases with renal hvdatidosis and the reduced number of cases with this renal anomaly.We report a case presenting this extremely rare combination and having a favorable outcome.The diagnosis was confirmed based on an association of iniagistic techniques and positive serology.The case was managed using a minimal invasive surgical technique(PAIR) that reduced the operative risks.Additionally,an antihelminthic agent[albendazole) was administered.To our knowledge,this is the first case with such comorbidity and treated through percutaneous approach.

Genetic Testing of the mucin I gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease

Background： Medullary cystic kidney disease （MCKD） is clinically indistinguishable from several other autosomal-dominant renal diseases： thus, molecular genetic testing is needed to establish a definitive diagnosis. A specific type of single cytosine insertion in the variable number tandem repeat （VNTR） of the mucin 1 （MUC1） gene is the only known cause of MCKD1; however, genetic analysis of this mutation is difficult and not yet offered routinely. To identify the causative mutation/s and establish a definitive diagnosis in a Chinese family with chronic kidney disease, clinical assessments and genetic analysis were performed, including using a modified genotyping method to identify the MUC1-VNTR single cytosine insertion. Methods： Clinical data from three patients in a Chinese family with chronic kidney disease were collected and evaluated. Linkage analysis was used to map the causative locus. Mutation analysis of uromodulin （UMOD） gene was performed using polymerase chain reaction （PCR） and direct sequencing. For MUC1 genotyping, the mutant repeat units were enriched by Mwol restriction, and then were amplified and introduced into pMD-18T vectors. The 192 clones per transformant were picked up and tested by colony PCR and second round of Mwol digestion. Finally, Sanger sequencing was used to confirm the MUC1 mutation. Results： Clinical findings and laboratory results were consistent with a tubulointerstitial lesion. Linkage analysis indicated that the family was compatible with the MCKDI locus. No mutations were found in UMOD gene. Using the modified MUC1 genotyping method, we detected the MUC1-VNTR single cytosine insertion events in three patients of the family; and mutation-containing clones were 12/192, 14/192, and 5/96, respectively, in the three patients. Conclusions： Clinical and genetic findings could support the MCKDI diagnosis. The modified strategy has been demonstrated to be a practical way to detect MUCI mutation.

Fat-poor renal angiomyolipoma with prominent cystic degeneration:A case report and review of the literature

BACKGROUND Angiomyolipoma(AML),the most common benign tumor of the kidney,is usually composed of dysmorphic blood vessels,smooth muscle,and mature adipose tissue.To our knowledge,AML with cystic degeneration has rarely been documented.Cystic degeneration,hemorrhage,and a lack of fat bring great challenges to the diagnosis.CASE SUMMARY A 60-year-old man with hypertension presented with a 5-year history of cystic mass in his left kidney.He fell 2 mo ago.A preoperative computed tomography(CT)scan showed a mixed-density cystic lesion without macroscopic fat density,the size of which had increased compared with before,probably due to hemorrhage caused by a trauma.Radical nephrectomy was performed.Histopathological studies revealed that the lesion mainly consisted of tortuous,ectatic,and thick-walled blood vessels,mature adipose tissue,and smooth muscle-like spindle cells arranged around the abnormal blood vessels.The tumor cells exhibited positivity for human melanoma black-45,Melan-A,smooth muscle actin,calponin,S-100,and neuron-specific enolase,rather than estrogen receptor,progesterone receptor,CD68,and cytokeratin.The Ki-67 labeling index was less than 5%.The final diagnosis was a fat-poor renal AML(RAML)with prominent cystic degeneration.CONCLUSION When confronting a large renal cystic mass,RAML should be included in the differential diagnosis.

Recurrent renal cell carcinoma leading to a misdiagnosis of polycystic liver disease: A case report

BACKGROUND Polycystic liver disease(PCLD) with a large cystic volume deteriorates the quality of life of patients through substantial effects on the adjacent organs,recurrent cyst infections, cyst rupture, and hemorrhage. Surgical or radiological intervention is usually needed to alleviate these symptoms. We report a rare case of the cystic metastasis of renal cell carcinoma(RCC), which was misdiagnosed as PCLD, as a result of the clinical and radiological similarity between these disorders.CASE SUMMARY A 74-year-old female who had undergone nephrectomy for papillary-type RCC(PRCC) was suffering from abdominal pain and the recurrent intracystic hemorrhage of multiple cysts in the liver. Imaging studies and aspiration cytology of the cysts showed no evidence of malignancy. With a diagnosis of autosomal dominant polycystic liver disease, the patient received hepatectomy for the purpose of mass reduction and infectious cyst removal. Surgery was performed without complications, and the patient was discharged on postoperative day 14. Postoperatively, the pathology revealed a diagnosis of recurrent PRCC with cystic formation.CONCLUSION This case demonstrates the importance of excluding the cystic metastasis of a cancer when liver cysts are observed.

肾脏囊性占位的影像学表现及Bosniak分级系统应用价值的研究

目的:探讨肾脏囊性占位的影像学表现,及利用Bosniak分级系统对其进行良恶性判断的应用价值。方法:高、低年资两组医生回顾性分析41例(42个病灶)经手术病理确诊的肾脏囊性占位影像学资料,使用Bosniak系统分级评价,用操作者特征曲线(ROC)、Kappa检验分析两组医生的影像判断结果,并与病理结果对照。结果:41例(42个病灶)肾脏囊性占位有40例为单侧病灶,1例为双侧病变。其中良性病灶24个;恶性病灶18个。高、低年资两组医生对本组肾脏囊性占位Bosniak分级的ROC曲线下面积分别是AZ1=0.921和AZ2=0.904,Mann-W-hitneyU检验两者差异无统计学意义,U=0.24,P>0.05。两组医生判断总符合率有中至高度的一致性,K=0.626,Bosniak系统中Ⅰ级(K=0.843)、Ⅳ级(K=0.715)两组医生有较佳一致性,ⅡF级(K=0.545)和Ⅲ级(K=0.545)属中至高度一致,Ⅱ级(K=0.222)符合较差。高、低年资组各分级中癌的阳性率,Ⅰ级分别为6.25%和0,Ⅱ级均为0,ⅡF级分别为0和42.9%,Ⅲ级分别为83.3%和71.4%,Ⅳ级均为100%。单纯囊肿的影像学表现为囊壁薄、光滑和边界清楚,囊液密度均匀,没有厚壁,没有钙化,增强扫描无强化。囊性肾癌的影像学特征性表现为囊壁上存在实性且强化的成分,或囊内及囊壁结节、较多且厚的囊内分隔、较厚且有强化的囊壁以及囊壁处不规则钙化灶。复杂囊肿的影像表现与囊性肾癌有所重叠。结论:Bosniak分级系统在肾脏囊性占位的影像学诊断中有较高的应用价值,提供了影像学描述、诊断及临床处理的标准,简便易学,容易推广。

Renal cell carcinoma: Evolving and emerging subtypes

Our knowledge of renal cell carcinoma(RCC) is rapidly expanding. For those who diagnose and treat RCC, it is important to understand the new developments. In recent years, many new renal tumors have been described and defined, and our understanding of the biology and clinical correlates of these tumors is changing. Evolving concepts in Xp11 translocation carcinoma, mucinous tubular and spindle cell carcinoma, multilocular cystic clear cell RCC, and carcinoma associated with neuroblastoma are addressed within this review. Tubulocystic carcinoma, thyroid-like follicular carcinoma of kidney, acquired cystic disease-associated RCC, and clear cell papillary RCC are also described. Finally, candidate entities, including RCC with t(6;11) translocation, hybrid oncocytoma/chromophobe RCC, hereditary leiomyomatosis and RCC syndrome, and renal angiomyoadenomatous tumor are reviewed. Knowledge of these new entities is important for diagnosis, treatment and subsequent prognosis. This review provides a targeted summary of new developments in RCC.

Isolated renal hydatid presenting as a complex renal lesion followed by spontaneous hydatiduria

Echinococcosis is a zoonotic disease. Liver is the most common site of involvement. Renal involvement is seen in 2% to 3% of patients. Computed tomography findings in renal hydatid typically include: a cyst with thick or calcified wall, unilocular cyst with detached membrane, a multiloculated cyst with mixed internal density and daughter cysts with lower density than maternal matrix. Rarely type Ⅳ hydatid cysts may mimic hypovascular renal cell carcinoma. We report a case of previously asymptomatic middle aged female who presented with mild intermittent pain and a complex renal lesion on imaging which was considered to be a hypovascular renal carcinoma or urothelial neoplasm. However, by serendipity, the patient had spontaneous hydatiduria and later was definitively diagnosed and stented. Hydatid disease should always be considered amongst the top differential diagnosis of an isolated "complex" renal lesion which remains indeterminate on imaging.

飞行人员痛风并肾结石、肾功能不全一例

一、临床资料患者男性,43岁,运一8空中领航员,飞行时间6500 h.自1998年7月开始,于进食海鲜、饮酒后反复出现左足拇指及第一趾关节红、肿、痛、活动不便,先后于3家体系部队空军医院查血尿酸增高,肾功能、肾脏b超正常,诊断为'痛风',经口服'秋水仙碱、消炎痛、别嘌醇'等药物治疗缓解,均结论飞行合格.