Polycystic Kidney Disease

Source: www.ncbi.nlm.nih.gov --- 29 days ago
Related Articles [Recent advances in molecular pathogenesis and Polycystic Kidney Disease treatment] Rev Med Chir Soc Med Nat Iasi. 2008 Jan-Mar;112(1):11-20 Authors: Covic M, Covic M Polycystic Kidney diseases (PKD) are common genetic disorders characterized by formation and progressive enlargement of cysts Kidney, liver and other organs, leading to end stage renal Disease. Regardless of the genetic defect underlying PKD, cystic epithelia seem to display common abnormalities: increased proliferation and apoptosis, loss of cellular differentiation and polarity, hypersecretion. The localization of multiples proteins, whose function are disrupted in PKD, in the primary cilium or at basal body at the base of the cilium highlight this neglected organelle as a common trigger of cystic diseases. Significant progresses have been made over the last few years towards a greater understanding of the molecular pathogenesis of cysts formation, particularly in the signaling pathways involved in cytogenesis: cAMP, mTOR, Wnt, Ras/MAPK. These advances have already brought several potential therapies targeting several key pathways of cystogenesis. PMID: 18677899 [PubMed - in process] ...

Source: www.ncbi.nlm.nih.gov --- 24 days ago
Related Articles Diagnosis and localization of renal cyst infection by 18F-fluorodeoxyglucose PET/CT in Polycystic Kidney Disease. Ann Nucl Med. 2008 Jul;22(6):529-31 Authors: Soussan M, Sberro R, Wartski M, Fakhouri F, Pecking AP, Alberini JL Renal cyst infection in Polycystic Kidney Disease is a serious complication. Early diagnosis and localization of infected cyst are crucial and usually require conventional imaging modalities, including ultrasound and computed tomography (CT). However, their contribution is limited because of nonspecific results. We report on a patient with suspected renal cyst infection for which 18F-fluorodeoxyglucose positron emission tomography (FDG-PET)/CT scan allowed the exact localization of the infected cyst and guided a drainage procedure. FDG-PET/CT imaging could be a valuable tool for early identification of infected renal cyst infection, and may contribute to better patient management. PMID: 18670861 [PubMed - in process] ...

Source: www.ncbi.nlm.nih.gov --- 15 days ago
Related Articles Outcome of Kidney transplantation in patients with Polycystic Kidney Disease: a single center study. Saudi J Kidney Dis Transpl. 2008 Jan;19(1):72-5 Authors: Roozbeh J, Razmkon AR, Jalaeian H, Raiss-Jalali GA, Behzadi S, Sagheb MM, Salahi H, Bahador A, Nikeghbalian S, Davari HR, Salehipour M, Malek-Hosseini SA Autosomal dominant Polycystic Kidney Disease (ADPKD) is a common cause of end-stage renal Disease and a common indication for renal transplantation. Patients with ADPKD show some differences in graft outcome and complications following renal transplantation. This study was undertaken to evaluate the demographics, outcome and complications of renal transplantation in patients with ADPKD. In a retrospective case-control design, 51 patients with ADPKD were recognized amongst a total of 1200 renal transplant patients. For each case, a matched control based on sex, age (+/- 5 years) and type of Kidney donor, was selected. All relevant data were gathered using patients' records and PNOT software. There were 34 males (66.7%) and 17 females (33.3%) with ADPKD. Mean age at transplantation was 42.6 +/- 14.3 years and source of donor organ was predominantly live unrelated (72.5%). Forty patients (78.4%) had extra-renal manifestations of ADPKD, the most common of which were cardiac valvular Disease (24 cases, 47.1%), and liver cysts (10 cases, 19.6%). Rejection occurred in 12 patients in the case-group (23.5%) in comparison ...

Source: www.ncbi.nlm.nih.gov --- 30 days ago
Related Articles Combined liver-Kidney transplantation in Polycystic Disease: case reports. Transplant Proc. 2008 Jul-Aug;40(6):2075-6 Authors: Rossi M, Spoletini G, Bussotti A, Lai Q, Travaglia D, Ferretti S, Poli L, Ginanni Corradini S, Merli M, Novelli G, Mennini G, Pugliese F, Berloco PB Polycystic Disease causes a progressive decrease in renal function and liver degeneration. The progression of the Disease evolves separately between organs and transplantation options vary: simultaneous or sequential liver-Kidney transplantation or single-organ transplantation. From September 2006 to June 2007 3 combined liver Kidney transplantations (CLKT) were performed for Polycystic Disease with end-stage renal Disease: 2 with Polycystic liver Disease, and 1 with hepatic failure due to congenital hepatic fibrosis. The widest dimensions of the Polycystic liver of 50 and 60 cm diameter were due to extensive cystic degeneration. We performed 1 simultaneous CLKT and 2 sequential transplantations: 1 liver after Kidney, and 1 Kidney after liver. At present all patients are alive with 100% graft function. Median creatinine level at discharge was 0.9 mg/dL (ranges, +/-0.2). Good liver graft function was reported in all 3 cases. Transplant benefit in Polycystic liver-Kidney Disease has been already demonstrated; conservative surgical options may result in a high incidence of complications in highly involved Polycystic livers. Delaying transplantation re ...

Source: www.biowizard.com --- 11 days ago
Kidney Int. 2008 Aug 20; Cadnapaphornchai MA, McFann K, Strain JD, Masoumi A, Schrier RW ...

Source: www.topix.com --- 4 minutes ago
ADPKD is more common than sickle cell anemia, cystic fibrosis, muscular dystrophy, hemophilia, Down's syndrome, and Huntington's Disease combined. ...

Source: www.ncbi.nlm.nih.gov --- 59 days ago
Related Articles Laparoscopic nephrectomy with intact specimen extraction for Polycystic Kidney Disease. J Endourol. 2008 Apr;22(4):675-80 Authors: Binsaleh S, Al-Enezi A, Dong J, Kapoor A PURPOSE: We present our technique and evaluate the experience of laparoscopic nephrectomy with intact specimen extraction for patients with autosomal dominant Polycystic Kidney Disease (ADPKD). MATERIALS AND METHODS: We retrospectively reviewed 16 laparoscopic nephrectomies performed by one laparoscopic surgeon in a university hospital between April 2004 and March 2006. Preoperative, intraoperative, and postoperative follow-up data are presented. A 3- to 4-port transperitoneal laparoscopic approach was used to dissect the involved Kidney, which was then removed intact through a Pfannenstiel or infraumbilical midline incision. RESULTS: A total of 16 patients were included in this study over a 2-year period. The average patient age was 49 years (range 29-67 years), and the average body mass index was 26.9 kg/m(2) (range 19.1-38.3 kg/m(2)). Eleven (69%) patients were receiving dialysis. The mean preoperative creatinine level was 520 mumol/L (range 108-976 mumol/L). Ten right (63%) and six left (37%) nephrectomies were performed. No patient had preoperative embolization. The mean operative time was 167 minutes (range 95-233 min). The mean blood loss was 76 mL (range 10-200 mL). No patient received a blood transfusion. The mean Kidney pathologic size was ...

Source: www.ncbi.nlm.nih.gov --- 35 days ago
Related Articles Small-molecule CFTR inhibitors slow cyst growth in Polycystic Kidney Disease. J Am Soc Nephrol. 2008 Jul;19(7):1300-10 Authors: Yang B, Sonawane ND, Zhao D, Somlo S, Verkman AS Cyst expansion in Polycystic Kidney Disease (PKD) involves progressive fluid accumulation, which is believed to require chloride transport by the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Herein is reported that small-molecule CFTR inhibitors of the thiazolidinone and glycine hydrazide classes slow cyst expansion in in vitro and in vivo models of PKD. More than 30 CFTR inhibitor analogs were screened in an MDCK cell model, and near-complete suppression of cyst growth was found by tetrazolo-CFTR(inh)-172, a tetrazolo-derived thiazolidinone, and Ph-GlyH-101, a phenyl-derived glycine hydrazide, without an effect on cell proliferation. These compounds also inhibited cyst number and growth by >80% in an embryonic Kidney cyst model involving 4-d organ culture of embryonic day 13.5 mouse kidneys in 8-Br-cAMP-containing medium. Subcutaneous delivery of tetrazolo-CFTR(inh)-172 and Ph-GlyH-101 to neonatal, Kidney-specific PKD1 knockout mice produced stable, therapeutic inhibitor concentrations of >3 microM in urine and Kidney tissue. Treatment of mice for up to 7 d remarkably slowed Kidney enlargement and cyst expansion and preserved renal function. These results implicate CFTR in renal cyst growth and suggest that CFTR inhibito ...

Source: www.ncbi.nlm.nih.gov --- 47 days ago
Perinatal deaths in a family with autosomal dominant Polycystic Kidney Disease and a PKD2 mutation. N Engl J Med. 2008 Jul 17;359(3):318-9 Authors: Bergmann C, Brüchle NO, Frank V, Rehder H, Zerres K PMID: 18635443 [PubMed - in process] ...

Source: www.ncbi.nlm.nih.gov --- 55 days ago
Related Articles Tuberous Sclerosis Complex With Polycystic Kidney Disease of the Adult Type: The TSC2/ADPKD1 Contiguous Gene Syndrome. Int J Surg Pathol. 2008 Jul 8; Authors: Bisceglia M, Galliani C, Carosi I, Simeone A, Ben-Dor D Although different diseases, tuberous sclerosis complex and autosomal dominant Polycystic Kidney Disease have been seen in association, the molecular basis of this being the proximity of tuberous sclerosis complex 2 and Polycystic Kidney Disease 1 genes on the same chromosome (16p13.3). Therefore, the classic autosomal dominant Polycystic Kidney Disease renal phenotype may occur in the context of tuberous sclerosis complex Disease as a result of large deletions involving both the Polycystic Kidney Disease 1 and tuberous sclerosis complex 2 genes. This is known as the tuberous sclerosis complex 2/autosomal dominant Polycystic Kidney Disease 1 contiguous gene syndrome. The criteria for this condition are fulfilled when renal lesions typical for classic autosomal dominant Polycystic Kidney Disease phenotype are associated with tuberous sclerosis complex phenotype. We present a new case of the sporadic form of this genetic disorder. The diagnosis of tuberous sclerosis complex in this patient was established on the presence of major and minor features, and the diagnosis of ADPKD was based on the presence of numerous large roundish renal cysts lined by a nondescript tubular epithelium. Sporadic cases of autosomal ...

Source: www.ncbi.nlm.nih.gov --- 3 days ago
Related Articles Neutrophil gelatinase-associated lipocalin (NGAL) as a marker of Kidney damage. Am J Kidney Dis. 2008 Sep;52(3):595-605 Authors: Bolignano D, Donato V, Coppolino G, Campo S, Buemi A, Lacquaniti A, Buemi M Neutrophil gelatinase-associated lipocalin (NGAL) is a protein belonging to the lipocalin superfamily initially found in activated neutrophils, in accordance with its role as an innate antibacterial factor. However, it subsequently was shown that many other types of cells, including in the Kidney tubule, may produce NGAL in response to various injuries. The increase in NGAL production and release from tubular cells after harmful stimuli of various kinds may have self-defensive intent based on the activation of specific iron-dependent pathways, which in all probability also represent the mechanism through which NGAL promotes Kidney growth and differentiation. NGAL levels predict the future appearance of acute Kidney injury after treatments potentially detrimental to the Kidney and even the acute worsening of unstable nephropathies. Furthermore, recent evidence also suggests that NGAL somehow may be involved in the pathophysiological process of chronic renal diseases, such as Polycystic Kidney Disease and glomerulonephritis. NGAL levels clearly correlate with severity of renal impairment, probably expressing the degree of active damage underlying the chronic condition. For all these reasons, NGAL may become one of the m ...

Source: www.washingtonpost.com --- 31 days ago
Susan Hager, 63, the founder of a Washington public relations firm and an advocate for female business owners and small-business entrepreneurs, died July 26 at her home in Washington. She had complications of Polycystic Kidney Disease. ...

Source: www.ncbi.nlm.nih.gov --- 14 days ago
Related Articles Whipple's procedure in a renal transplant recipient with Polycystic liver Disease. JOP. 2008;9(4):515-9 Authors: Bonatti H, Huguet K, McLaughlin S, Stockland A, Aranda-Michel J, Al Haddad M, Dougherty M, Fitzpatrick P, Kim G, Martin K, Hinder R, Nguyen JH CONTEXT: Polycystic Disease is a rare disorder, which most commonly manifests in the Kidney and liver. Recently an increased risk for pancreatic malignancies in subsets of patients with Polycystic Disease has been reported. CASE REPORT: We report a patient with Polycystic liver and Kidney Disease who successfully underwent a Whipple's procedure for pancreatic adenocarcinoma. CONCLUSION: Although technical difficulty may increase, pancreaticoduodenectomy can be safely performed in patients with Polycystic liver Disease. PMID: 18648145 [PubMed - indexed for MEDLINE] ...

Source: www.ncbi.nlm.nih.gov --- 5 days ago
Related Articles An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice. Nat Med. 2008 Aug 24; Authors: Traykova-Brauch M, Schönig K, Greiner O, Miloud T, Jauch A, Bode M, Felsher DW, Glick AB, Kwiatkowski DJ, Bujard H, Horst J, von Knebel Doeberitz M, Niggli FK, Kriz W, Gröne HJ, Koesters R We describe a transgenic mouse line, Pax8-rtTA, which, under control of the mouse Pax8 promoter, directs high levels of expression of the reverse tetracycline-dependent transactivator (rtTA) to all proximal and distal tubules and the entire collecting duct system of both embryonic and adult kidneys. Using crosses of Pax8-rtTA mice with tetracycline-responsive c-MYC mice, we established a new, inducible model of Polycystic Kidney Disease that can mimic adult onset and that shows progression to renal malignant Disease. When targeting the expression of transforming growth factor-beta1 to the Kidney, we avoided early lethality by discontinuous treatment and successfully established an inducible model of renal fibrosis. Finally, a conditional knockout of the gene encoding tuberous sclerosis complex-1 was achieved, which resulted in the early outgrowth of giant Polycystic kidneys reminiscent of autosomal recessive Polycystic Kidney Disease. These experiments establish Pax8-rtTA mice as a powerful tool for modeling renal diseases in transgenic mice. PMID: 18724376 [PubMed - as supplied by publisher ...

Source: www.ncbi.nlm.nih.gov --- 12 days ago
Related Articles Neutrophil gelatinase-associated lipocalin (NGAL): a new marker of Kidney Disease. Scand J Clin Lab Invest Suppl. 2008;241:89-94 Authors: Devarajan P The incidence of both acute Kidney injury (AKI, previously referred to as acute renal failure) and chronic Kidney Disease (CKD) is reaching epidemic proportions. In both situations, early intervention can significantly improve the prognosis. However, the paucity of early, predictive, non-invasive biomarkers has impaired our ability to institute potentially effective therapies for these common clinical conditions in a timely manner. The current status of one of the most promising novel biomarkers, namely neutrophil gelatinase-associated lipocalin (NGAL), is presented in this review. The evidence for the role of NGAL measurements in a variety of clinical situations leading to AKI (cardiac surgery, Kidney transplantation, contrast nephropathy, haemolytic uraemic syndrome and in the intensive care setting) or to CKD (lupus nephritis, glomerulonephritides, obstruction, dysplasia, Polycystic Kidney Disease, IgA nephropathy) is explored. The emerging utility of standardized clinical platforms for reliable measurement of NGAL in plasma (Triage NGAL Device; Biosite Incorporated) and urine (ARCHITECT analyzer; Abbott Diagnostics) is also discussed. It will be important in future studies to validate the sensitivity and specificity of NGAL concentration measurements in clinical samp ...

Source: www.ncbi.nlm.nih.gov --- 26 days ago
Related Articles The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms. Hum Mol Genet. 2008 Mar 15;17(6):859-71 Authors: Velayos-Baeza A, Toma C, Paracchini S, Monaco AP The KIAA0319 gene has been recently associated with developmental dyslexia and shown to be involved in neuronal migration. The deduced KIAA0319 protein contains several Polycystic Kidney Disease (PKD) domains which may mediate the interaction between neurons and glial fibres during neuronal migration. We have previously reported the presence of several alternative splicing variants, some of which are predicted to affect the deduced protein. In this study, we over-expressed constructs containing the main form (A) and two alternative variants (B and C) of KIAA0319. We show that the full-length KIAA0319 (A) is a type I plasma membrane protein, a topology consistent with its proposed function in neuronal migration. The oligomeric status of KIAA0319 is mainly dimeric, and this condition depends on the cysteine-rich regions of the protein, especially the transmembrane (TM) domain and surrounding sequence. KIAA0319 is highly glycosylated in different mammalian cell lines. The central region including the PKD domains is N-glycosylated. Furthermore, a short fragment N-terminal to the PKD domains contains mucin-type O-glycosylation. The two alternative isoforms are soluble proteins lacking the TM domain and, interestingly ...

Source: www.nature.com --- 12 days ago
Polycystic Kidney Disease can be caused by germline mutations in the gene encoding PC2 followed by a second somatic 'hit' in the normal allele. Li and her colleagues now show that TNF-α can also act as a second hit and that Disease progression can be blocked by anti–TNF-α treatment in an animal model. ...

Source: xml.pixsy.com --- 65 days ago
   Our Home of Distinction raises money for the the fight against Polycystic Kidney Disease, or PKD. ...

Source: www.medinewsdirect.com --- 64 days ago
A team of researchers at the Stowers Institute for medical research, Kansas City, Missouri, have discovered the role of a pro-inflammatory cytokine, tumor necrosis factor- alpha (TNF- α), in the pathogenesis of autosomal dominant Polycystic Kidney Disease (ADPKD). They also showed that by inhibiting the cytokine’s function with etanercept (Enbrel® | Amgen, Inc. and Wyeth [...] ...