Genomes and Genes
cystic kidney diseases
Summary: A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC).
- Seiler G, Rhodes J, Cianciolo R, Casal M. Ultrasonographic findings in Cairn Terriers with preclinical renal dysplasia. Vet Radiol Ultrasound. 2010;51:453-7 pubmed..The ability to detect dysplastic changes before clinical signs develop makes ultrasound a potentially useful screening method for canine renal dysplasia. ..
- Abdou A, Asaad N. Intrarenal epidermoid cyst presented as an enlarged multicystic kidney. Saudi J Kidney Dis Transpl. 2010;21:728-31 pubmed..Epidermoid cyst of the kidney could be multiple producing a picture similar to hydronephrosis and broadening the differential diagnosis of multicystic disease of the kidney...
- Clevert D, Horng A, Staehler M, Haseke N, Stief C, Reiser M. [Diagnostic algorithm in cystic renal masses]. Urologe A. 2010;49:421-31; quiz 432 pubmed publisher..This review describes cystic renal lesions with emphasis on the etiology and significance of these pathologies in a methodological comparison of conventional B-mode, contrast enhanced ultrasound and computer tomography. ..
- Umemoto Y, Okamura T, Akita H, Yasui T, Kohri K. Clinical evaluation of parapelvic renal cysts: do these represent latent urological malignant disease?. Asian Pac J Cancer Prev. 2009;10:1119-20 pubmed..Furthermore, careful follow up of parapelvic renal cyst patients may be required. ..
- Fernández Mena J, Zuluaga Gomez A, Valle Diaz de la Guardia F. [Imaging characterization of renal masses. Image atlas]. Actas Urol Esp. 2009;33:482-98 pubmed
- Micali S, Pini G, Sighinolfi M, De Stefani S, Annino F, Bianchi G. Laparoscopic simultaneous treatment of peripelvic renal cysts and stones: case series. J Endourol. 2009;23:1851-6 pubmed publisher..Concomitant symptomatic peripelvic cysts and kidney stones could justify simultaneous laparoscopic management. The procedure is technically challenging but safe and effective, and it avoids a staged treatment. ..
- Lee Y, Kim N, Cho K, Kang S, Kim D, Jung Y, et al. Bayesian classifier for predicting malignant renal cysts on MDCT: early clinical experience. AJR Am J Roentgenol. 2009;193:W106-11 pubmed publisher..05). For predicting malignant renal cysts on MDCT, the Bayesian classifier is feasible and may improve diagnostic performance. ..
- Ishikawa I, Hayama S, Morita K, Nakazawa T, Yokoyama H, Honda R, et al. Long-term natural history of acquired cystic disease of the kidney. Ther Apher Dial. 2010;14:409-16 pubmed publisher..Kidney enlargement due to ACDK reached a plateau after 21.1 years of hemodialysis in the male patients. Partial regression of severe ACDK may occur naturally after long-term hemodialysis without renal transplantation. ..
- Taweevisit M, Treetipsatit J, Tantbirojn P, Thorner P. Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report. Pediatr Dev Pathol. 2009;12:404-9 pubmed publisher..To the best of our knowledge, this is the first time that a combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in MKS has been reported in the literature. ..
- Enoki Y, Katoh G, Okabe H, Yanagisawa A. Clinicopathological features and CD57 expression in renal cell carcinoma in acquired cystic disease of the kidneys: with special emphasis on a relation to the duration of haemodialysis, the degree of calcium oxalate deposition, histological type, and. Histopathology. 2010;56:384-94 pubmed publisher..ACDK-RCCs reveal characteristics of Henle's loop, which may be related to their peculiar pathological features, including intratumoral oxalate deposition and cyst and AC formation. ..
- Gattone V, Sinders R, Hornberger T, Robling A. Late progression of renal pathology and cyst enlargement is reduced by rapamycin in a mouse model of nephronophthisis. Kidney Int. 2009;76:178-82 pubmed publisher..Our study shows that rapamycin can prevent the late- but not the early-stage progression of renal pathology and deterioration of renal functional in this model of nephronophthisis, presumably by inhibiting mTOR activity. ..
- Hudak L, Lunt S, Chang C, Winkler E, Flammer H, LINDSEY M, et al. The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy. Invest Ophthalmol Vis Sci. 2010;51:3792-9 pubmed publisher..CONCLUSIONS. Zebrafish lacking ift80 exhibited defects characteristic of JATD. Because the developing outer segments degenerated, Ift80 could possibly act as a maintenance factor for the IFT particle. ..
- Kadekawa K, Miyazato M, Saito S, Morozumi M, Matsuzaki A, Yoshimi N, et al. Renal cell carcinoma originating in a renal cyst in a 12-year-old girl. J Pediatr Surg. 2009;44:e5-7 pubmed publisher..Therefore, partial left nephrectomy was performed. On histopathologic examination, the 2 solid masses within the cyst were found to be renal cell carcinoma. This patient remains disease-free at 4 years after partial nephrectomy. ..
- Duldulao N, Lee S, Sun Z. Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion. Development. 2009;136:4033-42 pubmed publisher..Together, these results strongly support the hypothesis that JS-related disease (JSRD) is a ciliopathy, or a disease caused by ciliary defects, and that Arl13b functions mainly through the cilium. ..
- Aribas B, Dingil G, Dogan K, Kaya G, Unlü D, Yilmaz K, et al. Single-session percutaneous sclerotherapy in symptomatic simple renal cysts: long-term results. Minerva Urol Nefrol. 2009;61:129-36 pubmed..CT-guided needle aspiration may be more suitable for treating deeper and/or smaller (<6 cm) cysts, while US-guided catheter drainage may be preferable in cases of shallow and/or larger (>6 cm) cysts. ..
- McGuire B, Fitzpatrick J. The diagnosis and management of complex renal cysts. Curr Opin Urol. 2010;20:349-54 pubmed publisher..The overlap in diagnosing Bosniak IIf versus III is heavily influenced by interobserver variability and this needs to be a significant factor in making any decision. ..
- Iannicelli M, Brancati F, Mougou Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, et al. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat. 2010;31:E1319-31 pubmed publisher..These exons encode for a region of unknown function in the extracellular domain of meckelin. ..
- Li G, Feng G, Cuilleron M, Zhao A, Gentil Perret A, Cottier M, et al. CA9 level in renal cyst fluid: a possible molecular diagnosis of malignant tumours. Histopathology. 2009;54:880-4 pubmed publisher..001). The fluid of malignant cystic renal tumours contains a high level of CA9 protein. The measurement of CA9 level in cyst fluid may be used as a molecular diagnosis for differentiation between malignant and benign renal cystic masses. ..
- Willatt J, Francis I. Imaging and management of the incidentally discovered renal mass. Cancer Imaging. 2009;9 Spec No A:S30-7 pubmed publisher..This article addresses the most frequently encountered lesions and provides a framework for the diagnostic and management pathways for both solid and cystic lesions. ..
- Weng C, Chang M, Chen Y, Tian Y, Fang J, Yang C. Long-term online hemodiafiltration does not reduce the frequency and severity of acquired cystic kidney disease in hemodialysis patients. Ren Fail. 2009;31:555-61 pubmed..Duration of renal replacement therapy is the most important risk factor for ACKD. Factors that cannot be corrected by use of HDF may contribute to the formation of renal cysts. ..
- Bastos A, Piontek K, Silva A, Martini D, Menezes L, Fonseca J, et al. Pkd1 haploinsufficiency increases renal damage and induces microcyst formation following ischemia/reperfusion. J Am Soc Nephrol. 2009;20:2389-402 pubmed publisher..These data suggest the possibility that humans with ADPKD from PKD1 mutations may be at greater risk for damage from renal ischemia/reperfusion injury. ..
- El Harrech Y, Sossa J, Chafiki J, Janane A, Ameur A, Abbar M. [Role of polyvidone-iodine ablation in the management of symptomatic renal cysts]. J Radiol. 2009;90:1075-8 pubmed..Percutaneous sclerotherapy with povidone-iodine is a safe, effective and reproducible treatment of symptomatic renal cysts in adults. ..
- Vester U, Kranz B, Hoyer P. The diagnostic value of ultrasound in cystic kidney diseases. Pediatr Nephrol. 2010;25:231-40 pubmed publisher..The aim of this article is to summarize the diagnostic potential and limitations of ultrasonography and depict typical examples of the most important cystic entities. ..
- Viollet L, Gailey S, Thornton D, Friedman N, Flanigan K, Mahan J, et al. Utility of cystatin C to monitor renal function in Duchenne muscular dystrophy. Muscle Nerve. 2009;40:438-42 pubmed publisher..01). In one DMD subject in renal failure, cystatin C was elevated. This study demonstrates the potential value of cystatin C as a biomarker for monitoring renal function in DMD. Its applicability extends to other neuromuscular diseases. ..
- Giglio S, Contini E, Toni S, Pela I. Growth hormone therapy-related hyperglycaemia in a boy with renal cystic hypodysplasia and a new mutation of the HNF1 beta gene. Nephrol Dial Transplant. 2010;25:3116-9 pubmed publisher..This is particularly important in regard to genetic counselling. ..
- Rønning P, Andresen P, Hald J, Heimdal K, Scheie D, Schreiner T, et al. Low frequency of VHL germline mutations in Norwegian patients presenting with isolated central nervous system hemangioblastomas--a population-based study. Acta Neurol Scand. 2010;122:124-31 pubmed publisher..There exists insufficient data regarding the natural history of patients with renal cysts, which makes it difficult to include or disregard these lesions as an entity of VHL disease. ..
- Deltas C, Papagregoriou G. Cystic diseases of the kidney: molecular biology and genetics. Arch Pathol Lab Med. 2010;134:569-82 pubmed publisher..A major interplay of functions is anticipated, while mutations in all converge in the unifying phenotype of cyst formation. ..
- Porpiglia F, Fiori C, Billia M, Renard J, Di Stasio A, Vaccino D, et al. Retroperitoneal decortication of simple renal cysts vs decortication with wadding using perirenal fat tissue: results of a prospective randomized trial. BJU Int. 2009;103:1532-6 pubmed publisher..When symptom relief is considered, RCDW duplicates the results obtained with SRD. ..
- Tokar E, Diwan B, Waalkes M. Early life inorganic lead exposure induces testicular teratoma and renal and urinary bladder preneoplasia in adult metallothionein-knockout mice but not in wild type mice. Toxicology. 2010;276:5-10 pubmed publisher..Thus, MT deficiency made mice more sensitive to early life Pb exposure with regard to testes tumors, and renal and urinary bladder preneoplastic lesions. ..
- Kilciler M, Istanbulluoglu M, Basal S, Bedir S, Avci A, Ozgok Y. Finger assisted laparoscopic renal cyst excision: a simple technique. Urol J. 2010;7:90-4; discussion 94 pubmed..Laparoscopy is a versatile minimally invasive modality ideal for treating benign symptomatic renal cysts. According to our experience, we think that the finger assisted laparoscopic cyst excision is an easy and noninvasive procedure. ..
- ..Finally, the histological finding after nephrectomy results in a renal cell carcinoma pT1a. In this situation contrast enhanced ultrasound seems to be more sensitive than CT scan in detecting the perfusion of a renal mass. ..
- Bonsib S. The classification of renal cystic diseases and other congenital malformations of the kidney and urinary tract. Arch Pathol Lab Med. 2010;134:554-68 pubmed publisher..These advances may eventually provide the basis for future classification systems while suggesting targets for therapeutic approaches in the prevention and treatment of these diseases. ..
- Vos B, Laureys M. [Giant renal cyst as cause of colic obstruction]. Rev Med Brux. 2009;30:107-9 pubmed..The fluid culture was positive for Raoultella ornithinolytica and Enterococcus faecalis. No antibiotics were given but inflammatory syndrome remained within normal value. Colic function remained normal...
- Avni F, Hall M. Renal cystic diseases in children: new concepts. Pediatr Radiol. 2010;40:939-46 pubmed publisher..MR imaging can, in selected cases, provide additional information including the progressive associated hepatic changes. ..
- Farah Klibi F, Ferchichi L, Bouzouita A, Sfaxi M, Chebil M, Baltagi Ben Jilani S, et al. [Multilocular cystic renal cell carcinoma]. Tunis Med. 2009;87:222-4 pubmed..Multilocular cystic renal cell carcinoma, usually identified at earlier stages, had slower growth rate and was therefore associated with a better prognosis and longer survival than conventional renal cell carcinoma. ..
- Bonsib S. Renal cystic diseases and renal neoplasms: a mini-review. Clin J Am Soc Nephrol. 2009;4:1998-2007 pubmed publisher..Included are several genetic and acquired cystic kidney diseases associated with development of renal cell carcinoma, the topic of this review...
- Brochard K, Decramer S. [Cystic and hyperechogenic kidneys in children]. Nephrol Ther. 2010;6:272-9 pubmed publisher..A better classification of these patients allows tailor-made follow-up and care improvement. ..
- Orr N, McDonald S, McTaggart S, Henning P, Craig J. Frequency, etiology and treatment of childhood end-stage kidney disease in Australia and New Zealand. Pediatr Nephrol. 2009;24:1719-26 pubmed publisher..The proportion of children receiving transplants has not increased over time. ..
- Hudon V, Sabourin S, Dydensborg A, Kottis V, Ghazi A, Paquet M, et al. Renal tumour suppressor function of the Birt-Hogg-Dubé syndrome gene product folliculin. J Med Genet. 2010;47:182-9 pubmed publisher..In accordance with clinical data showing distinct renal malignancies arising in BHD patients, in this study FLCN is shown as a general tumour suppressor in the kidney. ..
- Choi Y, Ham W, Kim W, Cho K, Lee J, Cho S, et al. Clinical experience of single-session percutaneous aspiration and OK-432 sclerotherapy for treatment of simple renal cysts: 1-year follow-up. J Endourol. 2009;23:1001-6 pubmed publisher..Percutaneous OK-432 sclerotherapy is simple, safe, and effective, and it can be an alternative first-line therapy for simple renal cysts. ..
- McNeill H. Planar cell polarity: keeping hairs straight is not so simple. Cold Spring Harb Perspect Biol. 2010;2:a003376 pubmed publisher..This review will first briefly review data from the Drosophila field, where PCP was first identified and genetically characterized, and then explore how vertebrate tissues become polarized during development. ..
- Wuthrich R, Serra A. Mammalian target of rapamycin and autosomal dominant polycystic kidney disease. Transplant Proc. 2009;41:S18-20 pubmed publisher..It is anticipated that the inhibition of mTOR with sirolimus can slow disease progression and delay the need for chronic renal replacement therapy. Preliminary study results are expected in 2010. ..
- Rosenkrantz A, Hecht E, Taneja S, Melamed J. Angiomyolipoma with epithelial cysts: mimic of renal cell carcinoma. Clin Imaging. 2010;34:65-8 pubmed publisher..We report the CT and MRI appearance of AMLEC found incidentally in a patient with lupus nephritis. ..
- Montani M, Heinimann K, von Teichman A, Rudolph T, Perren A, Moch H. VHL-gene deletion in single renal tubular epithelial cells and renal tubular cysts: further evidence for a cyst-dependent progression pathway of clear cell renal carcinoma in von Hippel-Lindau disease. Am J Surg Pathol. 2010;34:806-15 pubmed publisher..Our in vivo results support a model in which renal cysts represent precursor lesions for clear cell renal cell carcinoma and arise from single renal tubular epithelial cells owing to von Hippel-Lindau gene deletion. ..
- Zhou J, Ouyang X, Cui X, Schoeb T, Smythies L, Johnson M, et al. Renal CD14 expression correlates with the progression of cystic kidney disease. Kidney Int. 2010;78:550-60 pubmed publisher..But the association was significant when the analysis was confined to males. Clearly more studies need to be done to evaluate the utility of CD14 as a marker for outcomes in ADPKD. ..
- Kitazume Y, Satoh S, Taura S, Kimula Y. Diffusion-weighted magnetic resonance imaging detection of renal cancer presenting with diffuse peritoneal metastases in a patient with hemodialysis-associated acquired cystic disease of the kidney. J Magn Reson Imaging. 2009;29:953-6 pubmed publisher..We demonstrated the usefulness of diffusion-weighted imaging with a high b-factor to detect renal cancer presenting with peritoneal metastasis in a patient with ACDK. ..
- Moses K, Oliva I, Osunkoya A, Carney K. An unusual presentation of a mixed epithelial and stromal tumor in an elderly male. ScientificWorldJournal. 2010;10:1810-3 pubmed publisher..We outline the case of an older male who presented with an enlarging abdominal mass causing symptoms that suggested a partial small bowel obstruction. Management of the patient and a brief review are discussed. ..
- Forner D, Lampe B. Pelvic cyst: renal or ovarian?. J Minim Invasive Gynecol. 2009;16:682-6 pubmed publisher..At laparoscopy, the patient was positioned head down, and the kidney, lying near the diaphragm, was not seen. ..