A Re-evaluation of Renal Biopsy-based Diagnoses Through a Genetic Analysis in Two Families with Alport Syndrome: Case Reports.

IF 1 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Internal Medicine Pub Date : 2024-12-05 DOI:10.2169/internalmedicine.4485-24

Yoshiaki Higashi, Kenichi Koga, Masako Hasebe, Chiho Fukushima, Chiaki Omiya, Keisuke Nishioka, Kandai Nozu, Kensei Yahata

引用次数: 0

Abstract

Alport syndrome is an inherited disorder characterized by progressive renal failure, sensorineural hearing loss, and ocular involvement due to pathogenic variants of genes encoding type IV collagen. A renal biopsy does not reveal specific findings in the early stages; thus, Alport syndrome may be diagnosed as another glomerular disease. We herein report two families that were previously diagnosed with other glomerular diseases based on renal biopsies and were then accurately diagnosed by genetic testing. An early diagnosis may lead to the avoidance of unnecessary biopsies and treatments, and appropriate management may improve the renal prognosis.

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来源期刊

Internal Medicine 医学-医学：内科

CiteScore

1.90

自引率

8.30%

发文量

审稿时长

2.2 months

期刊介绍： Internal Medicine is an open-access online only journal published monthly by the Japanese Society of Internal Medicine. Articles must be prepared in accordance with "The Uniform Requirements for Manuscripts Submitted to Biomedical Journals (see Annals of Internal Medicine 108: 258-265, 1988), must be contributed solely to the Internal Medicine, and become the property of the Japanese Society of Internal Medicine. Statements contained therein are the responsibility of the author(s). The Society reserves copyright and renewal on all published material and such material may not be reproduced in any form without the written permission of the Society.