肾包囊虫病一例报告

患者,男,40岁,藏族,牧民,已婚。16年来右肾区疼痛并向小腹部放射,伴尿痛、短暂性尿闭,尿中排出粉皮样物后,尿畅。每月发作1～3次。近数月来发作较频。无尿血。于1971年2月26日入院。体检:一般情况良好,右上腹部饱满,右肾区有叩击痛。尿常规未见异常。静脉肾盂造影左肾未见异常,右     

肾淋巴管肌瘤病一例报告

淋巴管肌瘤病（lymphangioleiomyomatosis，LAM）是平滑肌细胞在淋巴系统、小血管和肺实质等部位病态性增生而产生以呼吸困难、胸痛和气胸等肺部表现为主的一系列临床症状和体征的疾病。本病临床罕见，发生于肾脏者更为罕见。我院收治1例，现报告如下。     

儿童型肾髓质囊性病一例

患儿，男，９月龄，因发热、咳嗽到某医院就诊时发现贫血、血小板减少、血肌配、尿素氮升高而转入我院诊疗。患儿自出生后无特殊症状及体征。 体检体温３７．３℃、脉搏１２０次／ｍｉｎ、呼吸 ４８ 次／ｍｉｎ、体重 １２ ｋｇ，贫血貌，前囱门１．５ ｃｍ×１．５ ｃｍ，未长牙，呼吸急促，呈腹式呼吸。心肺听诊及腹部检查未有异常。右侧腹股沟斜疝和鞘膜积液。 辅助检查 Ｈｂ ５．４－ ６．２ ｇ／Ｌ，白细胞（４．４－６．０） × １０９／Ｌ。血小板（６２－９６）×１０９／Ｌ，发病初尿常规、尿免疫化学、大便常规、２４ｈ尿蛋白定量…     

肾Rosai-Dorfman病1例

患者,女,67岁.2003年10月日因左腰痛1月入院.自述无发热、血尿、盗汗、乏力和尿路刺激症状.体检:全身浅表淋巴结无肿大,未触及体表肿物,肝脾不大,两肾区无叩痛.血常规及血生化也未见异常.     

肾Rosai-Dorfman病1例

患者女 ,67岁。 2 0 0 3年 1 0月 2 2日因左腰痛 1个月入院 ,无发热、血尿、盗汗、乏力和尿路刺激症状。检查 :一般情况好。实验室相关检查未见异常。胸片 ( - ) ;B超、CT和MRI均提示左肾中下极肿块 ,界欠清 ,密度不匀 ,未发现区域淋巴结肿大。手术探查见左肾中下极一 6cm× 6cm× 5cm肿块 ,质韧 ,与肾周组织粘连 ,遂行肾根治性切除。免疫组化显示CD68、S 1 0 0均阳性 ,CK阴性。病理诊断 :左肾窦性组织细胞增生伴巨大淋巴增生症。术后恢复佳 ,未行放化疗 ,随访 8个月未复发。讨论　本病又称Rosai Dorfman病 ,是 1 969Rosai和Dorfman最…     

VonHippel—Lindau病中肾细胞癌一例

ＶｏｎＨｉｐｐｅｌ－Ｌｉｎｄａｕ病中肾细胞癌一例刘志吴国醛郭宇文患者男，３３岁。于１９８６年初反复出现头晕、头痛、恶心并呈进行性加重，同年年底出现呕吐。１９８７年２月行脑部ＣＴ及血管造影（图１）见有一占位病变。经后颅凹中线开颅术，切除小脑肿瘤。术后病...     

肾动脉瘤一例

患者,女,42岁,已婚,因反复左侧腰痛7年,加重6个月入院。患者于1997年因右肾结核于外院行右肾切除术,术后恢复尚可,抗结核治疗1年半,1998年复查时发现左肾轻度积水,未予特殊处理。患者定期复查泌尿系超声发现左肾积水进行性加重,于当地医院两次行左输尿管插管,留置双猪尾管,后因     

肾母细胞瘤合并肾母细胞瘤病6例临床分析

目的 探讨肾母细胞瘤(WT)合并肾母细胞瘤病(Nbm)的诊治方法及预后.方法 回顾分析2006年4月至2010年7月收治的6例WT合并Nbm患儿的临床资料.男4例,女2例;发病年龄5～14个月,平均9个月.WT位于左侧4例,右侧2例; Nbm位于WT同侧3例,对侧2例,双侧1例.WT均为单发,最大径分别为3、4、8、10、11、12 cm,Nbm单发3例,多发3例.行瘤肾切除术2例,保留肾脏的肿瘤切除+对侧肾上下极结节活检术1例,瘤肾切除+对侧保留肾脏的肿瘤切除术2例,保留肾脏的肿瘤及同侧结节切除术1例.术后以长春新碱、更生霉素或阿霉素化疗.结果 1例术后化疗15个月,33个月后肿瘤复发,手术切除后5个月再次复发,继续化疗11个月后死于肝脏、肺部转移.4例术后化疗6个月,其中3例已停化疗分别9、12、21个月;1例拟化疗15个月,目前已化疗8个月.此5例目前未见肿瘤复发,仍在密切随访中.结论 Nbm恶变率高,合并Nbm的WT复发率增高,化疗可降低Nbm恶变率,恶变或化疗无效的Nbm应行保留肾脏的肿瘤切除术.

Abstract：

Objective To investigate the diagnosis,treatment and prognosis of nephroblastomatosis (Nbm) combined with Wilms'tumor (WT). Methods Clinical data of six patients treated for WT combined with Nbm in Beijing Children's Hospital from 2006 to 2010 were reviewed retrospectively.The patients'ages ranged from five to 14 months.Two of the patients were female and four were male.The WTs were left-sided in four cases and right-sided in two cases.The Nbms were ipsilateral with WT in three cases,contralateral in two cases and bilateral in one case. The Nbms were single In three cases and multiple in three cases.WTs were all single and the maximum diameter was 3,4,8,10,11,and 12 cm respectively.Two paitents underwent nephrectomy.Nephron sparing surgery and upper and lower pole nodule biopsy was conducted in two cases,Nephrectomy and contralateral nephron sparing surgery was conducted in an additional two cases.Adjuvant chemotherapy included vincristine,actinomycin and doxorubicin. Results One patient had tumor recurrence 33 months after a 15 month regimen of postoperative chemotherapy. One patient had tumor recurrence and died after nephron sparing surgery 5 months after a 11 month regimen of chemotherapy.Four patients underwent 6 months of chemotherapy,and it was 9,12,and 21 months respectively after stop of chemotherapy.Another patient was still in chemotherapy. Conclusions Nbm is a pre-neoplastic proliferative process with high risk of developing WT.Chemotherapy may reduce the rate of Nbm malignancy.If Nbm is malignant or chemotherapy is invalid,nephron sparing surgery is recommended.     

A family with nephronophthisis – medullary cystic disease complex

We report a family with nephronophthisis-medullary cystic disease complex (NPH-MCD). Case 1 was a 12-year-old girl with normal growth and development, who showed anemia and proteinuria at a health screening. A renal biopsy specimen showed chronic tubulointerstitial nephritis. Her renal function progressively decreased, and maintenance hemodialysis was started in January 1989. Case 2, the 29-year-old elder brother of case 1, had had anemia for 9 years and visited our hospital with symptoms of a common cold. Examination showed that he had chronic renal failure. A renal biopsy specimen showed chronic tublointerstitial nephritis. Case 3, a 27-year-old man, a first cousin of case 1, had had anemia for 1 year and was admitted to our hospital because of acute cardiac failure associated with chronic renal failure. Hemodialysis was started immediately. Two other people in the same family had chronic renal failure. Typing of the histocompatibility leukocyte antigen (HLA) was performed in four members of the family, but the results showed that there was no involvement of HLA in the pathogenesis of NPH-MCD. Received: May 6, 1998 / Accepted: October 2, 1998     

Evidence of oligogenic inheritance in nephronophthisis

Nephronophthisis is a recessive cystic renal disease that leads to end-stage renal failure in the first two decades of life. Twenty-five percent of nephronophthisis cases are caused by large homozygous deletions of NPHP1, but six genes responsible for nephronophthisis have been identified. Because oligogenic inheritance has been described for the related Bardet-Biedl syndrome, we evaluated whether mutations in more than one gene may also be detected in cases of nephronophthisis. Because the nephrocystins 1 to 4 are known to interact, we examined patients with nephronophthisis from 94 different families and sequenced all exons of the NPHP1, NPHP2, NPHP3, and NPHP4 genes. In our previous studies involving 44 families, we detected two mutations in one of the NPHP1-4 genes. Here, we detected in six families two mutations in either NPHP1, NPHP3, or NPHP4, and identified a third mutation in one of the other NPHP genes. Furthermore, we found possible digenic disease by detecting one individual who carried one mutation in NPHP2 and a second mutation in NPHP3. Finally, we detected the presence of a single mutation in nine families, suggesting that the second recessive mutation may be in another as yet unidentified NPHP gene. Our findings suggest that oligogenicity may occur in cases of nephronophthisis.     

Ultrasound findings in juvenile nephronophthisis

The ultrasound finding of renal medullary cysts associated with increased echogenicity has been suggested to be diagnostic of juvenile nephronophthisis. The lack of cysts in several of our patients with juvenile nephronophthisis lead us to review the ultrasound findings at presentation in our patient population. Of 11 children with the diagnosis of juvenile nephronophthisis. 10 demonstrated increased echogenicity with loss of corticomedullary differentiation on initial ultrasound. Only 2 children had a single cyst each. On follow-up ultrasound, 2, 4.5, and 7 years later, 3 patients developed visible renal cysts. We conclude that at presentation the ultrasound finding consistent with the diagnosis of juvenile nephronophthisis is most often that of hyperechogenic kidneys without cysts; namely the lack of cysts does not rule out the diagnosis of juvenile nephronophthisis.     

A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor

BackgroundNephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and the most common hereditary disease leading to end-stage renal disease in children and adolescents. The NPHP1 gene was the first NPHP gene to be discovered. Pathogenic variation of the NPHP1 gene can cause juvenile renal wasting disease type 1.Case presentationHere, we report the first case of living related kidney transplantation of monozygotic twins with NPHP1 nephronophthisis in China; one of these cases involved cross-blood type kidney transplantation. Our experience shows that patients with NPHP1 nephronophthisis have almost no risk recurrent kidney disease following living related kidney transplantation and genetic testing. The two twins recovered well without any complications.ConclusionsThis is the first report of living related kidney transplantation of monozygotic twins with heterozygous deletion of the NPHP1 gene in a Chinese family with NPHP. In addition, genetic testing provides an efficient means of evaluating the safety of living related kidney transplantation in patients with NPHP1 nephronophthisis.     

Urinary concentration defects and mechanisms underlying nephronophthisis

The cystic kidney disease nephronophthisis (NPHP) is the commonest genetic cause of end-stage renal failure in young people and children. Histologically the disease is characterized by interstitial fibrosis, tubular atrophy with corticomedullary cyst development and disruption of the tubular basement membrane. Affected children present with polydipsia and polyuria, secondary to a urinary concentration defect, before these structural changes develop. Recently, molecular genetic advances have identified several genes mutated in NPHP, providing novel insights into its pathophysiology for the first time in decades. Here we review the normal physiological mechanisms of urinary concentration and explain, in the context of recent discoveries, the possible mechanisms underlying urinary concentration defects in patients with NPHP. The pattern of a ciliary and adherens junction subcellular localization of nephrocystin proteins is discussed. Recent animal models of cystic kidney disease and treatment with vasopressin V2 receptor antagonists are reviewed and a hypothesis regarding urinary concentration defects in NPHP is proposed. Understanding the cellular mechanisms underlying NPHP and other cystic kidney diseases will provide the rationale for therapeutic interventions in this disease. Early urinary concentration defects provide both a clue to clinical diagnosis of NPHP and potential therapeutic targets for pharmacological treatment of this condition.     

Clinical and genetic characteristics of Japanese nephronophthisis patients

Background

Nephronophthisis (NPH) accounts for 4–5 % of end-stage renal disease occurring in childhood.

Method

We investigated the clinical context and characteristics of renal and extrarenal symptoms, as well as the NPHP genes, in 35 Japanese patients with clinical and histologic features suggesting NPH.

Results

NPH occurred fairly uniformly throughout Japan irrespective of region or gender. In three families, NPH affected siblings. The median age of patients was 12.5 years. Renal abnormalities attributable to NPH discovered through mass screening, such as urine tests in school. However, NPH accounted for less than 50 % of children with abnormal findings, including incidentally discovered renal dysfunction during evaluation of extrarenal symptoms or during routine check-ups. Typical extrarenal manifestations leaded to discovery including anemia and delayed physical development. The urine often showed low gravity specific density and low molecular weight proteinuria. Frequent renal histologic findings included cystic dilation of tubules, mainly in the medulla, and irregularity of tubular basement membranes. Genetically abnormalities of NPHP1 were not common, with large deletions frequently noted. Compound heterozygotes showing single abnormalities in each of NPHP1, NPHP3, and NPHP4 were observed.

Conclusions

Our findings resemble those reported in Western populations.

     

Calcimimetics inhibit renal pathology in rodent nephronophthisis

The development and progression of renal cysts appears to be driven by reduced cellular calcium and increased cyclic adenosine monophosphate (cAMP) from G-protein-coupled receptors. To test whether treatment with a calcimimetic that stimulates the G-protein-coupled calcium-sensing receptor might normalize cystic epithelial cell intracellular calcium and cAMP, thereby inhibiting cyst progression, we used pcy mice. These animals develop cysts principally in the collecting duct, as do humans with nephronophthisis (NPHP). We administered the calcimimetic R-568 mixed in their food at early or late stages in the pathogenesis of cyst formation. The treatment reduced cyst enlargement, and the early treatment inhibited development of renal fibrosis. Although the effect of later treatment was more modest, both stages of the disease responded positively to treatment. Additionally, R-568 decreased total kidney cAMP in the pcy mice and, in vitro, decreased cAMP levels and cell proliferation, while increasing intracellular calcium in immortalized human autosomal recessive polycystic kidney disease renal epithelial cells. The latter two effects were unique to R-568 and not replicated by raising extracellular calcium. Thus, treating pcy mice with R-568 was effective in reducing cyst progression in this rodent model of NPHP. Direct studies will be needed to determine whether these results can be applied to the human disease.     

Mutational analysis in 119 families with nephronophthisis

Nephronophthisis (NPHP) is the most common genetic cause of end-stage renal disease (ESRD) in the first three decades of life. Six genes, NPHP1-6, have been reported, which when mutated result in NPHP. Our aim was to examine 119 families with NPHP and absence of homozygous NPHP1 deletions for mutations in NPHP2-6 and the two candidate genes BCL2 and CYS1. The 119 individuals affected with NPHP were selected from unrelated families, in which homozygous NPHP1 deletions were excluded. A combination of CEL-1 endonuclease digestion and direct sequencing was used for focused mutational analysis in this cohort. All individuals were examined for homozygous deletions in NPHP1 and directly sequenced for BCL2 and CYS1. As selected by appropriate phenotype, 9%, 38%, 97%, 20% and 20% of individuals were examined for mutations in NPHP2, 3, 4, 5, and 6 respectively. No mutations in known NPHP genes or in the candidate genes, BCL2 and CYS1, were found sufficient to explain NPHP in affected individuals. These findings demonstrate the need to evaluate additional candidate genes as the cause of NPHP.