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A Clinicopathological Investigation of Two Autopsy Cases of Calpainopathy (LGMD2A) Shuji Hashiguchi 1 , Katsuhito Adachi 1 , Toshio Inui 1 , Yoshiharu Arii 1 , Setsuko Kashiwagi 2 , Miho Saito 2 , Noriko Kagawa 3 , Hisaomi Kawai 2 1Department of Neurology, Tokushima National Hospital, National Hospital Organization 2Department of Internal Medicine, Tokushima National Hospital, National Hospital Organization 3Department of Pathological Science and Technology, Institute of Health Biosciences, The University of Tokushima Graduate School Keyword: 筋ジストロフィー , カルパイノパチー , 肢帯型筋ジストロフィー2A型 , カルパイン3 , 剖検 , muscular dystrophy , calpainopathy , LGMD2A , calpain 3 , autopsy pp.1097-1102
Published Date 2014/9/1
DOI https://doi.org/10.11477/mf.1416101891
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Abstract

In this study, we compared the clinicopathological findings of two autopsy cases of patients with calpainopathy (LGMD2A) from different families.

The patient in case 1 was a 72-year-old man with a history of type 2 diabetes mellitus. He exhibited recent memory impairments from the age of 70. ECG revealed an incomplete right bundle branch block. A homozygous frameshift mutation c.1796dupA was found in the CAPN3 gene. Cause of death was respiratory insufficiency and heart failure. The patient in case 2 was a 70-year-old man with a history of hypertension. ECG revealed an incomplete right bundle branch block. A homozygous missense mutation c.1080G>C (p.Trp360Cys) in CAPN3 gene was identified. Cause of death was ischemic cardiomyopathy and systemic circulatory failure.

In both cases, muscle pathology revealed severe dystrophic changes. In case 2, cardiac hypertrophy and old myocardial infarcts with stenosis of coronary arteries were observed. Histological examination of the sinoatrial node showed fatty infiltration with ischemic changes in case 2. In both cases, the patients' brains showed cerebral atrophy and well preserved neurons.

Calpain 3 abnormality was correlated with skeletal muscle involvement. It should be considered that LGMD2A might be complicated by dysfunction of the cardiac conduction system.

(Received October 9, 2013; Accepted January 20, 2014; Published September 1 2014)


Copyright © 2014, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院

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