Volume 79 (2013), No. 1/2013(January)
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Original
Increased arterial stiffness in patients with nephrotic syndrome
Ozkan Gungor, Meltem Sezis Demirci, Fatih Kircelli, Erhan Tatar, Savas Sipahi, Ender Hur, Sait Sen, Huseyin Toz, Ali Basci and Ercan Ok
Page No. 1
Abstract
Clinical Nephrology, Vol. 79 – No. 1/2013 (1-6)
Increased arterial stiffness in patients with nephrotic syndrome
Ozkan Gungor1, Meltem Sezis Demirci1, Fatih Kircelli1 , Erhan Tatar1 , Savas Sipahi2, Ender Hur1, Sait Sen3, Huseyin Toz1, Ali Basci1 and Ercan Ok1
1Ege University School of Medicine, Division on Nephrology, Izmir, 2Sakarya Research and Education Hospital, Sakarya, and 3Ege University School of Medicine, Division on Pathology, Izmir, Turkey
Introduction: Nephrotic syndrome (NS) and arterial stiffness (AS) have each been linked with increased risk for cardiovascular diseases. However, there is no data in the literature up-to-date on AS in adult patients with NS. Thus, in this study, we aimed to evaluate the potential associations between AS, volume and nutritional status in patients with NS in comparison to a healthy control group. Methods: 34 adult patients with newly diagnosed but untreated NS and 34 healthy controls were studied. AS was assessed by carotid-femoral PWV (cf-PWV) and body composition, nutritional status by multifrequency bioelectric impedance analysis (BIA). Results: Mean age was 44.6 ± 18.7 years (18 – 72). Mean cf-PWV was 8.3 ± 2.5 m/s in patients with NS and 6.7 ± 1.1 m/s in controls (p = 0.002) . In univariate analysis, cf-PWV and positively correlated with age, systolic blood pressure, mean arterial pressure (MAP), pulse pressure, body mass index, body fat ratio, waisthip ratio, creatinine, uric acid and negatively with creatinine clearance. In linear regression analysis, only age and MAP predicted arterial stiffness. Total body fluid, extracellular water (ECW), ECW/Height, ECW/body surface area and third space volumes were higher in patients with NS. Conclusion: Patients with NS have increased AS and are more hypervolemic compared to the healthy subjects.Correspondence to:
Ozkan Gungor, MD
Ege University School of Medicine
Division of Nephrology
35100, Bornova, Izmir, Turkey
Email: [email protected]
Original
Predictive factors associated with change rates of LV hypertrophy and renal dysfunction in CKD patients
Kozue Okumura, Hiroaki Io, Mayumi Matsumoto, Takuya Seto, Miyuki Takagi, Atsumi Masuda, Masako Furukawa, Lili Nagahama, Keisuke Omote, Atsuko Hisada, Chieko Hamada, Satoshi Horikoshi and Yasuhiko Tomino
Page No. 7
Abstract
Clinical Nephrology, Vol. 79 – No. 1/2013 (7-14)
Predictive factors associated with change rates of LV hypertrophy and renal dysfunction in CKD patients
Kozue Okumura, Hiroaki Io, Mayumi Matsumoto, Takuya Seto, Miyuki Takagi, Atsumi Masuda, Masako Furukawa, Lili Nagahama, Keisuke Omote, Atsuko Hisada, Chieko Hamada, Satoshi Horikoshi and Yasuhiko Tomino
Division of Nephrology, Department of Internal Medicine, Juntendo University Faculty of Medicine, Tokyo, Japan
Background: This longitudinal study is the first report on the factors associated with change rates of the estimated glomerular filtration rate (eGFR) and left ventricular mass index (LVMI) using echocardiography in chronic kidney disease (CKD) patients. Methods: Measurements of biochemical and physical values, and LVMI evaluated by echocardiography were performed twice (baseline and follow-up period) in pre-dialysis CKD patients. Blood and urine samples were collected at the time of the echocardiographic study. Results: The change rates of hemoglobin (Hb) and transferrin saturation (TSAT: (serum iron/total iron binding capacity)) were identified as independent risk factors for changes in eGFR by multivariate regression analysis. In the LVMI improvement group, the change rate of systolic blood pressure (sBP) was identified as an independent factor for change in LVMI. In the LVMI worsening group, the change rates of sBP, proteinuria and Hb were identified as independent risk factors for changes in LVMI. Conclusions: It appears that treatment of renal and iron deficiency anemia might prevent progression of renal dysfunction. To prevent LV hypertrophy in CKD patients, renal anemia, hypertension and proteinuria should be treated.Correspondence to:
Yasuhiko Tomino, MD, PhD
Division of Nephrology
Department of Internal Medicine
Juntendo University, Faculty of Medicine
2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan
Email: [email protected]
Original
Rapid decline in renal function after acute myocardial infarction
Yusuke Mashima, Tsuneo Konta, Kazunobu Ichikawa, Ami Ikeda, Kazuko Suzuki, Masahiro Wanezaki, Satoshi Nishiyama, Tetsu Watanabe and Isao Kubota
Page No. 15
Abstract
Clinical Nephrology, Vol. 79 – No. 1/2013 (15-20)
Rapid decline in renal function after acute myocardial infarction
Yusuke Mashima, Tsuneo Konta, Kazunobu Ichikawa, Ami Ikeda, Kazuko Suzuki, Masahiro Wanezaki, Satoshi Nishiyama, Tetsu Watanabe and Isao Kubota
Department of Cardiology, Pulmonology and Nephrology, Yamagata University School of Medicine, Yamagata, Japan
Aim: To investigate the long term effects of cardiac events on renal function, a prospective study of patients with acute myocardial infarction was conducted. Methods: A total of 137 patients with acute myocardial infarction were followed for 1 year. The change of estimated glomerular filtration rate (eGFR) in cardiac patients was compared with that in background-matched controls, and the factors associated with eGFR changes were analyzed. Results: The eGFR decrease was much larger after myocardial infarction, from 73.7 ± 1.9 ml/min/1.73 m2 (mean ± SEM) at baseline to 64.7 ± 1.7 at 1 year, (p < 0.001), compared with that of controls (from 72.8 ± 1.2 to 72.1 ± 1.3, p = 0.305). Multiple regression analysis showed that eGFR change was associated negatively with age, baseline eGFR, proteinuria, and positively with the administration of angiotensin converting enzyme inhibitors or angiotensin II receptor blockers, but not the severity of cardiac damage and comorbidities. Longitudinal analysis 1 year before and 2 years after myocardial infarction showed that eGFR decrease was larger during baseline and 6 months after the event (–7.0 ± 1.0). Conclusions: Renal decline was rapid after myocardial infarction and was affected by clinical characteristics of patients. Careful follow-up of renal function is recommended to prevent the progression of renal and cardiac disease.Correspondence to:
Dr. Tsuneo Konta
Department of Cardiology, Pulmonology, and Nephrology
Yamagata University School of Medicine
Yamagata, 2-2-2, Iida-Nishi, Yamagata, 990-9585, Japan
Email: [email protected]
Original
Decrease in endothelial progenitor cells associated with inflammation, but not with endothelial dysfunction in chronic hemodialysis patients
Abdullah Ozkok, Esin Aktas, Akar Yilmaz, Aysegul Telci, Huseyin Oflaz, Gunnur Deniz and Alaattin Yildiz
Page No. 21
Abstract
Clinical Nephrology, Vol. 79 – No. 1/2013 (21-30)
Decrease in endothelial progenitor cells associated with inflammation, but not with endothelial dysfunction in chronic hemodialysis patients
Abdullah Ozkok1, Esin Aktas2, Akar Yilmaz3, Aysegul Telci4, Huseyin Oflaz3, Gunnur Deniz2 and Alaattin Yildiz1
1Department of Internal Medicine, Division of Nephrology, Istanbul School of Medicine, 2Experimental Medical Research Institute (DETAE), 3Department of Cardiology, and 4Department of Biochemistry, Istanbul School of Medicine, Istanbul University, Istanbul, Turkey
Introduction: Endothelial progenitor cells (EPC), bone marrow derived cells, are considered to have a pivotal role in maintaining the integrity and repair of the endothelium. Endothelial dysfunction, atherosclerosis and inflammation are implicated for increased CV mortality in uremia. In this study, we aimed to investigate the possible association of EPC with inflammation, endothelial dysfunction and atherosclerosis in chronic hemodialysis (HD) patients. Patients and methods: 67 HD patients (male/female: 30/37, mean age: 58 ± 15 years) and 22 healthy controls (male/female: 13/9; mean age: 48 ± 8 years) were included. EPC were cultivated in the fibronectin-covered culture dishes and counted. Also EPC markers were studied by flow cytometry using anti-CD34, anti-CD133 and anti-vascular endothelial growth factor receptor 2 (VEGFR-2) antibodies. Serum levels of IL-6, TNF-α, intercellular cell adhesion molecule (ICAM), vascular cell adhesion molecule (VCAM) and asymmetric dimethyl-arginine (ADMA) were measured by ELISA method. Endothelial function was investigated by measuring flow-mediated dilatation (FMD) of the brachial artery. Carotid intima-media thickness (CIMT) and ratio (CIMR) were also examined. Results: EPC number was decreased in HD patients when compared to controls (63.7 ± 8.9 vs. 101.5 ± 19.6/ high power field, p < 0.001). Also CD34+ cell count was significantly lower in the HD group (2.26 ± 3.52 vs. 6.03 ± 4.73%, p < 0.0001). EPC number was significantly inversely correlated with serum TNF-α levels in HD patients(r: –0.453, p < 0.001) and also in the control group (r = –0.509, p = 0.044). There was an inverse association between VEGFR-2+/CD34+cell count and serum IL-6 levels (r: –0.364, p = 0.006) in HD patients. However, EPC count was not related to FMD and CIMT/CIMR. In HD patients, there was a positive correlation between serum IL-6 levels with CIMT (r = 0.358, p = 0.01) and CIMR was positively correlated with serum ICAM (r = 0.430, p = 0.002). Conclusion: EPC number was decreased in uremia and was associated with inflammation. TNF-α might have specific inhibitory actions on EPC in both HD patients and healthy controls. No relationship was present between EPC and endothelial dysfunction/atherosclerosis.Correspondence to:
Prof. Alaattin Yildiz, MD
Istanbul School of Medicine
Department of Internal Medicine
Division of Nephrology Millet Caddesi
Topkapi, Istanbul, Turkey
Email: [email protected]
Original
Glomerular disease recurrence in second and subsequent kidney transplants
Claire Kennedy, Ayanfeoluwa Obilana, Frank O’Brien, Patrick O’Kelly, Anathony Dorman, Mark Denton, Colm Magee and Peter Conlon
Page No. 31
Abstract
Clinical Nephrology, Vol. 79 – No. 1/2013 (31-36)
Glomerular disease recurrence in second and subsequent kidney transplants
Claire Kennedy1, Ayanfeoluwa Obilana1, Frank O’Brien1, Patrick O’Kelly1, Anathony Dorman2, Mark Denton1, Colm Magee1 and Peter Conlon1
1Department of Nephrology, and 2Department of Pathology, Beaumont Hospital, Dublin, Ireland
Introduction: Primary glomerular diseases such as primary focal segmental glomerular sclerosis (FSGS), IgA Nephropathy and membrano-proliferative glomerulonephritis (MPGN) may recur in renal transplants, and can potentially lead to graft failure. The rate of recurrence in second and subsequent renal transplants, following failure of the first graft due to recurrence, is unclear. Methods: A retrospective review of the Irish transplant database from 1982 to 2009 was performed. Patients were included for analysis if their first graft failed due to biopsy-confirmed recurrent glomerular disease (primary FSGS, IgA nephropathy or MPGN) and they underwent subsequent re-transplantation. Results: 3,330 deceased and living renal transplants were performed during the time period in question. 33 patients had a deceased donor renal transplant following recurrence of primary FSGS, IgA nephropathy or MPGN causing first graft failure. Clinically significant disease recurrence was seen in 44% of re-transplants at 10 years. Median second graft survival in this group was 9.1 years. The median graft survival was 10.5 years for all other re-transplants performed in Ireland during the same time period. Conclusion: Clinically significant disease recurrence does not necessarily affect re-transplants following loss of the first graft to disease recurrence. Selected patients who experience first graft failure due to recurrent glomerular disease should not be precluded from receiving a second transplant.Correspondence to:
Dr. Claire Kennedy
Department of Nephrology, Beaumont Hospital
Dublin 9, Ireland
Email: [email protected]
Original
Clinicopathologic features and treatment response in nephrotic IgA nephropathy with minimal change disease
Jing Qin, Qiongqiong Yang, Xueqing Tang, Wenfang Chen, Zhibin Li, Haiping Mao, Zongpei Jiang, Fengxian Huang and Xueqing Yu
Page No. 37
Abstract
Clinicopathologic features and treatment response in nephrotic IgA nephropathy with minimal change disease
Jing Qin1,2*, Qiongqiong Yang1,2*, Xueqing Tang1,2, Wenfang Chen3, Zhibin Li4, Haiping Mao1,2, Zongpei Jiang1,2, Fengxian Huang1,2 and Xueqing Yu1,2
1Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, 2Key Laboratory of Nephrology, Ministry of Health, Guangzhou, Guangdong, 3Department of Pathology and 4Epidemiology and Clinical Research Unit, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
*Both of the authors contributed equally to this work.
Objective: To analyze the clinicopathological features and therapeutic response of nephrotic IgA nephropathy (IgAN) patients with minimal-change disease (MCD). Methods: 62 nephrotic IgAN patients were enrolled between January 2002 and December 2008, and divided into two groups including Group A: patients with MCD-like pathological features, and Group B with non-MCD pathologic pattern. The clinicopathological features, treatments, and responses were then analyzed. Results: 13 (21.0%) patients exhibited MCD-like pathological changes. Patients in Group A presented more prominent proteinuria, hypoalbuminemia but higher hemoglobin and no incidence of renal insufficiency compared to Group B (p < 0.05). 62 patients were treated with corticosteroid, and the complete remission rate in Group A is higher than that in Group B (84.6% vs. 34.7%, p = 0.008), but the relapse rate is much higher in Group A (53.8% vs. 20.4%, p = 0.03). 21 patients were treated combining with immunosuppressant due to unresponsiveness or relapse, which yielded a high re-remission rate in Group A (100%). After follow-up of 53.9 ± 26.9 months, the 5-year renal survival rate is higher in Group A (100%) than that in Group B (84.7%), but no significant difference was observed (p = 0.24). Conclusions: MCD-like pathological changes exist in quite a few nephrotic IgAN patients. These IgAN patients responded well to corticosteroid monotherapy but had a higher rate of relapse. Though manifesting with severe nephrotic symptoms, they tended to have a favorable clinical outcome probably due to the minimal pathological changes. Nevertheless, larger sample size and longer follow-up periods are needed for better understanding of the disease.Correspondence to:
Dr. Xueqing Yu
Department of Nephrology
The First Affiliated Hospital
Sun Yat-sen University
Guangzhou 510080, China
Email: [email protected]
Original
Ureteroscopic treatment of patients with small, painful, non-obstructing renal stones: the small stone syndrome
Ying H. Jura, Susan Lahey, Brian H. Eisner and Stephen P. Dretler
Page No. 45
Abstract
Clinical Nephrology, Vol. 79 – No. 1/2013 (45-49)
Ureteroscopic treatment of patients with small, painful, non-obstructing renal stones: the small stone syndrome
Ying H. Jura1,2, Susan Lahey1,2, Brian H. Eisner1,2 and Stephen P. Dretler1,2
1Department of Urology, Massachusetts General Hospital, and 2Harvard Medical School, Boston, MA, USA
Aims: Although it is thought that renal colic results from urinary tract obstruction, some patients evaluated for renal colic are found to have no source for their pain other than small, non-obstructing renal calyceal stones. We refer to this as “the small stone syndrome”. We aim to determine if small non-obstructing calyceal stones may also cause pain and that treatment may relieve this pain. Method: A retrospective chart review was performed to identify patients with non-obstructing calyceal stones (≤ 4 mm in diameter) evaluated for flank pain and treated by ureteroscopy. Patients completed a follow-up questionnaire regarding pre- and postoperative pain and quality of life (QOL). Results: 13 patients were included in the analysis. Mean stone diameter was 3 mm (range 1.5 – 4.0 mm). Following ureteroscopy, 11 (85%) patients reported complete resolution of pain and 2 (15%) reported partial resolution. 12 patients were able to describe preoperative and postoperative QOL and of these, 8 (67%) had improved QOL, 4 (33%) had no change, and none reported worsening. Follow-up imaging was available in 10 patients: stone free in 6 (60%), reduction in stone size in 3 (30%), and stone unchanged in 1 (10%). Conclusions: Ureteroscopic treatment of painful small, non-obstructing renal calyceal stones achieved complete or partial resolution of pain in all patients and improvement in QOL in a majority of patients. Correspondence to:
Ying H. Jura, MD
Department of Urology, GRB 1102
Massachusetts General Hospital
55 Fruit Street, Boston, MA 02114, USA
Email: [email protected]
Original
Prevalence of chronic kidney disease in Jing adults in China: a village-based study
Chao Xue, Xu D. Ye, Wei Li, Qian Peng, Heng Y. Ding, Ying H. Zhang, Di F. He, Xu Bai, You Huang, Ya S. Song, Ling Pang and Yun H. Liao
Page No. 50
Abstract
Clinical Nephrology, Vol. 79 – No. 1/2013 (50-56)
Prevalence of chronic kidney disease in Jing adults in China: a village-based study
Chao Xue, Xu D. Ye, Wei Li, Qian Peng, Heng Y. Ding, Ying H. Zhang, Di F. He, Xu Bai, You Huang, Ya S. Song, Ling Pang and Yun H. Liao
Department of Renal, First Affiliated Hospital, Guangxi Medical University, Nanning, China
Aim: Chronic kidney disease (CKD) is increasingly recognized as a predictor of end-stage renal and cardiovascular disease. There is no data on CKD prevalence in numerous minority communities of China such as the Guangxi Jing community. We etermined CKD prevalence and related risk factors in Jing adults. Methods: A stratified cluster random sampling method was used in this study comprising 757 Jing adults. Questionnaires, physical examinations and laboratory tests including measurements of urinary albumin and hematuria, were performed. Estimated glomerular filtration rate (eGFR) was calculated using the improved Chinese population MDRD formula. CKD-related risk factors were also examined. Results: After standardization for age and gender, the prevalence of albuminuria, haematuria and eGFR < 60 ml/min per 1.73 m2 was 12.5%, 3.8% and 0.4%, respectively Overall CKD prevalence was 15.3%, while the awareness rate was only 11.6%. Females had a significantly higher (p < 0.05) prevalence of albuminuria, hematuria and eGFR < 60 ml/min compared to males. CKD prevalence tended to increase significantly (< 0.05) with increase in age. Using the standardized age and gender ratios, the prevalence of hypertension, diabetes, hyperlipidemia and hyperuricemia was 14.8%, 5.2%, 38% and 16.2%, respectively, with awareness of 41.0%, 41.2%, 6.6% and 0.9%. Prevalence of overweight or obesity status and metabolic syndrome was 12.1% and 3.0%. Females showed a significantly higher prevalence of hyperuricemia and obesity or overweight status. CKD prevalence was also significantly higher in people with risk diseases. Regression analysis showed that age, gender, hypertension, high cholesterol and diabetes were CKD-related risk factors, while culture (higher education level) was a protective factor. Conclusion: Jing adults showed a high CKD prevalence of 15.3%, with a low awareness rate of 11.6%. Older subjects and females were more susceptible with a high prevalence of hypertension, diabetes, hyperlipidemia, metabolic syndrome etc. being associated closely with CKD. Correspondence to:
Yun.H. Liao, MD
Division of Renal, First Affiliated Hospital
Guangxi Medical University Nanning, China
Email: [email protected]
In-Depth Review
Phosphate as a sensor and signaling molecule
Yves Sabbagh
Page No. 57
Abstract
Clinical Nephrology, Vol. 79 – No. 1/2013 (57-66)
Phosphate as a sensor and signaling molecule
Yves Sabbagh
Endocrine and Renal Sciences, Sanofi-Genzyme R&D Center, Genzyme, A Sanofi Company, Framingham, MA, USA
In prokaryotes and eukaryotes inorganic phosphate plays a vital role in many cellular and biological processes. Maintenance of proper phosphate homeostasis is therefore essential and any deviation from that state can lead to several acute and chronic disease states. In order to maintain physiological levels, a tightly regulated phosphate sensing and signaling mechanism needs to exist. The earliest and best characterized mechanisms of phosphate sensing and signaling have been described in yeast and bacteria involving the Pho regulon. The Pho regulon has been shown to function in a coordinated fashion in order to meet the cellular needs of the organism. Studies have also shown that the protein kinase A (PKA) signaling pathway is involved in phosphate metabolism. In eukaryotes, due to the complexity of the regulatory mechanisms and involvement of several key regulators of phosphate secreted from different organs, it has been difficult to identify the phosphate sensor. Nonetheless the crosstalk between organs in response to phosphate provides strong evidence to support the existence of such a mechanism. This review will focus on this evidence and highlight the parallels tha exist with the Pho regulon. We will focus on the kidney-arathyroid, kidney-intestinal, parathyroid-intestinal, kidney-bone, and finally the parathyroid-bone axes. Correspondence to:
Yves Sabbagh, PhD
49 New York Avenue
Framingham, MA 01701, USA
Email: [email protected]
Nephrology Education
Renal cortical necrosis following a colonoscopy
Muhammad Hammadah, Lillian Gaber and Rajeev Raghavan
Page No. 67
Abstract
Clinical Nephrology, Vol. 79 – No. 1/2013 (67-71)
Renal cortical necrosis following a colonoscopy
Muhammad Hammadah1, Lillian Gaber2 and Rajeev Raghavan3
1Department of Medicine, University of Aleppo-Faculty of Medicine, Aleppo, Syria, 2Department of Pathology, Weill Cornell College of Medicine, Methodist Hospital, and 3Department of Medicine and Division of Nephrology, Baylor College of Medicine, Houston, TX, USA
A 76-year old African-American male presented with profound renal failure within 2 weeks after a screening colonoscopy. Polyethylene glycol (PEG) was the sole oral preparatory agent. The significantly elevated lactate dehydrogenase (LDH) and biopsy findings were consistent with acute renal cortical necrosis (RCN). PEG is associated with AKI, but the exact mechanism is uncertain. PEG can be biodegraded to diethylene glycol (DEG), which is a nephrotoxic agent associated with RCN. Three months after presentation, the patient remains hemodialysis dependent.Correspondence to:
Rajeev Raghavan, MD
Assistant Professor of Medicine
Nephrology Division, Department of Medicine
Baylor College of Medicine
One Baylor Plaza, BCM 620, Houston, TX 77030, USA
Email: [email protected]
Nephrology Education
Plasmapheresis in myeloma cast nephropathy
Isabelle Chapdelaine and François Madore
Page No. 72
Abstract
Clinical Nephrology, Vol. 79 – No. 1/2013 (72-77)
Plasmapheresis in myeloma cast nephropathy
Isabelle Chapdelaine1,2 and François Madore2
1Trainee in Nephrology, Université de Montréal and 2Nephrology Department, Hôpital du Sacré-Coeur de Montréal, Montréal, Québec, Canada
Renal failure in multiple myeloma is frequent, and portends a dismal prognosis. Precipitation of free light chains in tubules contributes to development of cast nephropathy and renal failure. Treatment with plasmapheresis is reported as an adjunct to chemotherapy in these patients, but evidence regarding its efficacy in the literature is conflicting. In this article, we report the case of a 63-year-old man who presented with severe acute renal failure due to myeloma cast nephropathy and whose kidney function improved significantly following treatment with dexamethasone and a course of 8 plasma exchanges. We then provide a review of the technical aspects of plasmapheresis, followed by an analysis of the randomized trials that have been published to date on the efficacy of plasmapheresis for myeloma cast nephropathy.Correspondence to:
Dr. François Madore
Hôpital du Sacré-Coeur de Montréal
5400, Boul. Gouin Ouest
Montréal, Qc, Canada H4J 1C5
Email: [email protected]
Nephrology Education
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria
Thomas Eggermann, Sabrina Spengler, Bernd Denecke, Klaus Zerres and Christoph J. Mache
Page No. 78
Abstract
Clinical Nephrology, Vol. 79 – No. 1/2013 (78-80)
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria
Thomas Eggermann1, Sabrina Spengler1, Bernd Denecke2, Klaus Zerres1 and Christoph J. Mache3
1Institute of Human Genetics, University Hospital, 2Interdisciplinary Center for Clinical Research, IZKF “BIOMAT”, RWTH Aachen, Germany and 3Department of Pediatrics, Medical University Graz, Austria
Xanthinuria Type I is caused by mutations in the xanthine dehydrogenase gene (XDH). We report on a patient suffering from xanthinuria. Genomic DNA was screened for point mutations and imbalances in the XDH gene by sequencing and microarray typing. We could identify homozygosity of a multiexon deletion in the XDH gene; large genomic imbalances have not yet been reported in this disease. As our case and other studies on genetic alterations in kidney diseases show, large deletions (and duplications) significantly contribute to the etiology of these entities, specific assays to discover these imbalances should therefore be included in genetic testing approaches. Correspondence to:
Thomas Eggermann, PhD
Institute of Human Genetics
Pauwelsstr. 30, 52074 Aachen, Germany
Email: teggermann@ ukaachen.de
Nephrology Education
The origin of idiopathic renal arteriovenous malformation with giant twin aneurysms
Yoshitaka Iwazu, Shigeaki Muto, Yukio Miyata, Masanori Ochi, Akihiko Tokue, Yasushi Asano and Eiji Kusano
Page No. 81
Abstract
Clinical Nephrology, Vol. 79 – No. 1/2013 (81-84)
The origin of idiopathic renal arteriovenous malformation with giant twin aneurysms
Yoshitaka Iwazu1, Shigeaki Muto1, Yukio Miyata1, Masanori Ochi2, Akihiko Tokue2, Yasushi Asano1 and Eiji Kusano1
Departments of 1Nephrology and 2Urology, Jichi Medical University, Tochigi, Japan
A 50-year-old female patient who presented with intermittent gross hematuria was referred to our hospital. Three-dimensional computed tomography (3D-CT) revealed a left renal arteriovenous malformation (AVM). Because she declined to undergo additional therapy including surgical treatment, we observed the clinical course of renal AVM for 7 years using 3DCT. When the 3D-CT showed gradual enlargement of the aneurysms concurrent with the onset of clinical symptoms (cardiomegaly and hypertension), we performed simple left nephrectomy. After the operation, the cardiomegaly and hypertension returned to normal, and gross hematuria did not recur. Based on the macro-anatomical findings of the resected kidney and the observation of the natural course, this case strongly supported the hypothesis that the renal AVM had existed from birth and enlarged gradually to eventually produce the typical signs and symptoms.Correspondence to:
Yoshitaka Iwazu, MD
Department of Medicine, Division of Nephrology
Jichi Medical University
Shimotsuke, Tochigi 329-0498, Japan
Email: [email protected]
