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      A Critical Appraisal of the Radiological Evaluation of Nephrocalcinosis

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          Abstract

          Background/Aim: The level of agreement concerning the diagnosis of nephrocalcinosis (NC) based on ultrasonography (US), computed tomography (CT) or kidney/ureter/bladder (KUB) X-ray was assessed. Methods: Sequences of KUB+US+CT from 62 patients, 48 with at least one exam suggesting NC and 14 with pelvicalyceal calcifications (nephrolithiasis) were reviewed twice by 3 radiologists (firstly randomized and secondly presenting KUB+US+CT of each patient together). Results: The intraobserver concordance varied from 76 to 90% for KUB, 77 to 85% for US and 82 to 89% for CT. There was a significant change in diagnosis between the 1st and 2nd reviews for observer 1 in KUB and CT, for observer 2 in US, but not for observer 3. Evaluating patients’ exams together did not provide a better agreement. The highest sensitivity and specificity (92 and 89%, respectively) were only attained when 2 exams suggested NC diagnosis, being CT one of them. These enabled us to suggest that 33 out of 48 (62.5%) patients had NC (evidenced in US+CT+KUB (81.8%), US+CT (12.1%) or KUB+CT (6.1%). Conclusion: The low level of concordance renders the radiological diagnosis of NC difficult. Nephrocalcinosis should be confirmed by CT combined with either US or KUB.

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          Renal cortical nephrocalcinosis

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            A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.

            The anion exchanger gene (AE1) or band 3 encodes a chloride-bicarbonate (Cl(-)/HCO(3)(-)) exchanger expressed in the erythrocyte and in the renal alpha-intercalated cells involved in urine acidification. The purpose of the present study was to screen for mutations in the AE1 gene in 2 brothers (10 and 15 years of age) with familial distal renal tubular acidosis (dRTA), nephrocalcinosis, and failure to thrive. AE1 mutations were screened by single-strand conformation polymorphism, cloning, and sequencing. A complete form of dRTA was confirmed in the 2 affected brothers and an incomplete form in their father. All 3 were heterozygous for a novel 20-bp deletion in exon 20 of the AE1 gene. This deletion resulted in 1 mutation in codon 888 (Ala-888-->Leu) followed by a premature termination codon at position 889, truncating the protein by 23 amino acids. As band 3 deficiency might lead to spherocytic hemolytic anemia or ovalocytosis, erythrocyte abnormalities were also investigated, but no morphologic changes in erythrocyte membrane were found and the osmotic fragility test was normal. A novel mutation in the AE1 gene was identified in association with autosomal dominant dRTA. We suggest that RTA be considered a diagnostic possibility in all children with failure to thrive and nephrocalcinosis.
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              Nephrocalcinosis in radiographs computed tomography sonography and histology

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                Author and article information

                Journal
                NEC
                Nephron Clin Pract
                10.1159/issn.1660-2110
                Nephron Clinical Practice
                S. Karger AG
                1660-2110
                2007
                July 2007
                22 May 2007
                : 106
                : 3
                : c119-c124
                Affiliations
                Nephrology Division, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil
                Article
                102999 Nephron Clin Pract 2007;106:c119–c124
                10.1159/000102999
                17522474
                © 2007 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.

                Page count
                Tables: 5, References: 20, Pages: 1
                Categories
                Original Paper

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