Hereditary Nephropathy with Nerve Deafness (Alport’s Syndrome)

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Abstract

Alport’s syndrome is a glomerulopathy of unknown pathogenesis that should be considered in any patient with unexplained hematuria. Four new kindreds of carefully studied family backgrounds were investigated; renal functional tests, otorhinolaryngological and ophthalmological tests, chromosomal maps, light and immunofluorescent microscopic studies were carried out. Renal biopsies of three male patients were also examined by electron microscopy. Characteristic ultrastructural lesions were found: the basement membrane showed segmentary thickenings with characteristic focal and local splitting of the lamina densa, giving rise to electron-lucent spaces.

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Author and article information

Journal

Journal ID (publisher-id): NEF

Journal ID (nlm-ta): Nephron

Journal ID (doi): 10.1159/issn.1660-8151

Title: Nephron

Publisher: S. Karger AG

ISSN (Print): 1660-8151

ISSN (Electronic): 2235-3186

Publication date Subscription-year: 1974

Publication date (Print): 1974

Publication date (Electronic): 28 November 2008

Volume: 13

Issue: 5

Pages: 404-415

Affiliations

Sezione di Nefrologia, Ospedale Civile di Vimercate, Centro di Microscopia Elettronica, Istituto di Farmacologia dell’Università di Milano e Divisione di Nefrologia, Ospedale San Carlo Borromeo, Milano

Article

Publisher ID: 180417 Other ID: Nephron 1974;13:404–415

DOI: 10.1159/000180417

PubMed ID: 4431551

SO-VID: 4abe674d-4141-4bda-a842-ca6fb15a56f3

License:

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.

History

Date received : 19 November 1973

Date accepted : 22 April 1974

Page count

Pages: 12

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