Singh Mable Misha, Kumar Ravindra, Tewari Satyendra, Agarwal Sarita
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Department of Genetics, National Institute for Research in Tribal Health, Indian Council of Medical Research, Jabalpur, Madhya Pradesh, India.
J Pediatr Genet. 2017 Dec;6(4):222-226. doi: 10.1055/s-0037-1603193. Epub 2017 May 11.
Beta thalassemia is an autosomal, recessive disorder, characterized by ineffective erythropoiesis. Chronic transfusions and inability of body to eliminate iron lead to an iron overload, thereby causing damage to heart. Natriuretic peptides (NPs) are produced within the heart, which are then released into the circulation in response to ventricular wall stress. We, therefore, aimed to study the relation between ventricular dysfunction and N-terminal pro-B-type natriuretic peptides (NT-proBNPs). We enrolled 105 patients with increased serum ferritin levels and echocardiography was performed. We collected blood samples and NT-proBNP levels were measured in them. Though we found that the studied group had no significant difference in the mean serum NT-proBNP levels, in patients with or without hypertrophy ( = 37, = 0.992), the NT-proBNP levels were found to be significantly increased in patients with diastolic dysfunction ( = 24, < 0.0001 with mean values of 577.67 ± 122.01 and 456.50 ± 48.40 pg/mL in patients with and without diastolic dysfunction, respectively). The NT-proBNP levels correlated well with the echocardiography indices, such as left ventricular end-systolic diameter (LVESD), ratio between early mitral inflow velocity and mitral annular early diastolic velocity (E/E' ratio), and ratio of the early (E) to late (A) ventricular filling velocities (E/A ratio), and were found to have significant positive correlation with the serum ferritin levels. The NT-proBNP levels correlated significantly with diastolic dysfunction; thus, serum ferritin levels could be useful for assessing the diastolic dysfunction in patients with beta thalassemia.
β地中海贫血是一种常染色体隐性疾病,其特征为红细胞生成无效。慢性输血以及身体无法清除铁会导致铁过载,进而损害心脏。利钠肽(NPs)在心脏内产生,然后响应心室壁压力释放到循环系统中。因此,我们旨在研究心室功能障碍与N末端前B型利钠肽(NT-proBNPs)之间的关系。我们纳入了105例血清铁蛋白水平升高的患者,并进行了超声心动图检查。我们采集了血样并检测其中的NT-proBNP水平。尽管我们发现研究组的平均血清NT-proBNP水平无显著差异,在有或无心肌肥厚的患者中(n = 37,p = 0.992),但在舒张功能障碍患者中NT-proBNP水平显著升高(n = 24,p < 0.0001,舒张功能障碍患者和无舒张功能障碍患者的平均值分别为577.67±122.01和456.50±48.40 pg/mL)。NT-proBNP水平与超声心动图指标密切相关,如左心室收缩末期内径(LVESD)、二尖瓣流入早期速度与二尖瓣环舒张早期速度之比(E/E'比值)以及心室充盈早期(E)与晚期(A)速度之比(E/A比值),并且发现与血清铁蛋白水平呈显著正相关。NT-proBNP水平与舒张功能障碍显著相关;因此,血清铁蛋白水平可用于评估β地中海贫血患者的舒张功能障碍。