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      Detection of Renal Dysfunctions in Family Members of Patients with Balkan Endemic Nephropathy


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          Background/Aim: Recent studies have questioned whether new cases of Balkan endemic nephropathy (BEN) are occurring. The aim of the present study was to find out whether new members with renal dysfunctions can be identified among family members of BEN patients from the Kolubara region. Methods: The study included 47 family members of 5 BEN patients on hemodialysis (HD) and 17 members of 3 non-BEN patients on HD. Their medical and epidemiological histories were taken, an objective survey made, and all persons were examined for global and tubular kidney function. Results: Seven BEN family members (2 with previously known BEN) had creatinine clearance (Ccr) below the 75th percentile rank according to sex and age. All non-BEN family members had normal Ccr and no evidence of previous renal disorders. Hypertension was found in 20 (43%) BEN and 6 (35%) non-BEN family members. No significant differences in the frequency of renal function disorders (proteinuria, α<sub>1</sub>-microglobulinuria, urine specific gravity, osmolality, functional excretion of sodium, tubular phosphate resorption) or anemia were found between the groups. Renal disorders were detected in 18 BEN family members without previously detected disease, 3 of whom fulfilled criteria for a diagnosis of BEN and another 2 for BEN-suspected persons. Conclusion: New cases of BEN are still arising among the affected families in the Kolubara region.

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          Most cited references6

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          Report of the committee on the genetic constitution of autosomes other than chromosomes 1, 2, and 6

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            Clinical features of Balkan endemic nephropathy.

            This paper describes the clinical symptoms and signs of Balkan endemic nephropathy (BEN). The initial asymptomatic period followed by weakness and lassitude during renal insufficiency is emphasized. Non-characteristic lumbar pain may be present and episodes of macrohaematuria may occur. There is no fever, no severe dysuria, and no general disease preceding the symptoms. No oedema of the nephrotic type is recognized. Working capacity is unaffected until the late stage of the disease. In the advanced stages pallor of the skin and xantochromia of palms and soles are noticeable. Blood pressure is normal, but in the advanced phase may be elevated. In the uraemic phase a full uraemic syndrome is found. Urothelial tumours are frequent, occurring in 2-47% of cases; tumour cells may be found in the urine. Proteinuria of tubular type may be found early; in the uraemic phase it is constant. In the urinary sediment there are scarce white and red blood cells (the latter episodically abundant). Bacteriuria is present in about 20% of women patients. Glucosuria (less than 10%) and aminoaciduria (less than 10%) have been reported. In the early stages of BEN the urine concentration capacity is impaired earlier than renal blood flow and glomerular filtration rate. Enzymuria is present in the early phases. Tamm-Horsfall protein may be increased in the urine. Normo- or hypochromic normocytic hyporegenerative anaemia is a frequent finding. Bone marrow and leucocytes are normal. Serum proteins and immunoglobulins are not altered. Complement is normal; anti-glomerular basal membrane and anti-tubular basal membrane are negative. On radiography, kidney size varies from normal to the size of a small contracted kidney. The clinical picture of the disease is that of a slowly progressing tubulo-interstitial chronic nephritis.
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                Author and article information

                Am J Nephrol
                American Journal of Nephrology
                S. Karger AG
                February 2005
                22 March 2005
                : 25
                : 1
                : 50-54
                aInstitute of Endemic Nephropathy, Lazarevac, and bSchool of Medicine, University of Belgrade, Serbia and Montenegro
                84105 Am J Nephrol 2005;25:50–54
                © 2005 S. Karger AG, Basel

                Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                : 01 November 2004
                : 12 January 2005
                Page count
                Figures: 1, Tables: 3, References: 19, Pages: 5
                Self URI (application/pdf): https://www.karger.com/Article/Pdf/84105
                Self URI (text/html): https://www.karger.com/Article/FullText/84105
                Self URI (journal page): https://www.karger.com/SubjectArea/Nephrology
                Original Report: Patient-Oriented, Translational Research

                Cardiovascular Medicine,Nephrology
                Renal dysfunctions,Hypertension,Balkan endemic nephropathy
                Cardiovascular Medicine, Nephrology
                Renal dysfunctions, Hypertension, Balkan endemic nephropathy


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