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结节病患者舒张功能障碍的发生率及其与HLA DRB1*等位基因的关系。

The frequency of diastolic dysfunction in patients with sarcoidosis and it's relationship with HLA DRB1* alleles.

作者信息

Ozyilmaz Ezgi, Akilli Rabia, Berk İlayda, Deniz Ali, Ozturk Ozlem Goruroglu, Baydar Oya, Saygideger Yasemin, Seydaoglu Gulsah, Erken Eren

机构信息

Department of Chest Diseases, Cukurova University Faculty of Medicine, Adana, Turkey.

Department of Cardiology, Cukurova University Faculty of Medicine, Adana, Turkey.

出版信息

Sarcoidosis Vasc Diffuse Lung Dis. 2019;36(4):285-293. doi: 10.36141/svdld.v36i4.8606. Epub 2019 May 1.

DOI:10.36141/svdld.v36i4.8606
PMID:32476964
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7247094/
Abstract

BACKGROUND

Impaired systolic function is common in sarcoidosis however the frequency of diastolic dysfunction (DD) and it's possible genetic basis has not been fully elucidated yet. The aim of this study is to evaluate the frequency of left ventricular DD(LVDD) and right ventricular DD(RVDD) and it's possible relationship between Human Leukocyte Antigen(HLA)-DRB1* alleles in patients with sarcoidosis.

METHODS

Seventy seven patients (51 females, mean age 41.1±8.2yrs) without known sarcoid related or any other structured heart disease and 77 healthy controls with a similar age and gender (38.7±7.8yrs,51 females) were included in the case control study. DD was diagnosed with echocardiography. RVDD was defined as early(E)/late(A) ratio<1 or >2 on tricuspit valve. LVDD was defined as E/A ratio<1 or >2 on mitral valve, with isovolumetric relaxation time(IVRT)>90 miliseconds(msn) or deceleration rate of early diastolic flow(Edec)>220msn respectively. All patients were HLAtyped with the Sequence Specific Oligonucleotide Probe(SSOP) method.

RESULTS

The frequencies of LVDDs and RVDDs were significantly higher in sarcoidosis patients than the controls (26.0% vs. 2.6% for LVDD; and 42.9% vs. 18.2% for RVDD)(p<0.05). No significant difference was found in patients according to the presence of RVDD and LVDD in terms of age, gender or respiratory function test parameters. Although the frequency of HLA DRB1* alleles were comparable among patients with RVDD, HLA DRB1*14 alleles were more frequent in patients with LVDD.

CONCLUSIONS

Biventricular DD is common in patients with sarcoidosis without manifest cardiac involvement. HLA DRB1*14 allele seems to be related with LVDD in this study population.

摘要

背景

收缩功能受损在结节病中很常见,然而舒张功能障碍(DD)的发生率及其可能的遗传基础尚未完全阐明。本研究的目的是评估结节病患者左心室舒张功能障碍(LVDD)和右心室舒张功能障碍(RVDD)的发生率及其与人类白细胞抗原(HLA)-DRB1*等位基因之间的可能关系。

方法

病例对照研究纳入了77例(51例女性,平均年龄41.1±8.2岁)无已知结节病相关或任何其他结构性心脏病的患者以及77例年龄和性别相似的健康对照(38.7±7.8岁,51例女性)。通过超声心动图诊断舒张功能障碍。RVDD定义为三尖瓣处的舒张早期(E)/舒张晚期(A)比值<1或>2。LVDD定义为二尖瓣处的E/A比值<1或>2,等容舒张时间(IVRT)>90毫秒(msn)或舒张早期血流减速率(Edec)>220msn。所有患者均采用序列特异性寡核苷酸探针(SSOP)方法进行HLA分型。

结果

结节病患者中LVDD和RVDD的发生率显著高于对照组(LVDD:26.0%对2.6%;RVDD:42.9%对18.2%)(p<0.05)。根据RVDD和LVDD的存在情况,患者在年龄、性别或呼吸功能测试参数方面未发现显著差异。尽管RVDD患者中HLA DRB1等位基因的频率相当,但LVDD患者中HLA DRB114等位基因更为常见。

结论

在无明显心脏受累的结节病患者中,双心室舒张功能障碍很常见。在本研究人群中,HLA DRB1*14等位基因似乎与LVDD有关。

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