18例Barth综合征患儿的临床和遗传学特征分析
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詹湉柳, 严子航, 吴近近, 陈浩, 陈丽君, 陈轶维, 傅立军
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Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndrome
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ZHAN Tianliu, YAN Zihang, WU Jinjin, CHEN Hao, CHEN Lijun, CHEN Yiwei, FU Lijun
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表1 18例BTHS患儿的临床特征
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Tab 1 Clinical characteristics of 18 BTHS patients
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| Sample | Age of onset /month | Age at diagnosis /month | Birth weight/g | Age at death /month | Cause of death | First presentation | Genotype | LVEF/LVFS /% | LVEDd Z score | LVPWd Z score | NC/C | Prolonged QTc | Neutropenia |
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| BTHS 1 | 2.5 | 3 | 2 000 | 7 | Heart failure with fever | Pneumonia | c.527A>G | 45.6/22.1 | 5.7 | 0.45 | 1.58 | - | - | | BTHS 2 | 2.5 | 3 | 2 400 | 7.5 | Heart failure with fever | Heart failure | c.527A>G | 36.2/16.7 | 3.8 | -0.12 | 2.2 | - | - | | BTHS 3 | 6 | 20 | 2 850 | 77 | Accidental asphyxiation in a vegetative state | Muscle weakness | c.367C>T | 40.1/19.1 | 3.3 | 1.96 | 2.11 | - | + | | BTHS 4 | 6.5 | 6.5 | 2 300 | 7.5 | Ventricular fibrillation | Pneumonia | c.710_711delTG | 36.8/17.3 | 5.3 | 2.18 | 2.75 | - | + | | BTHS 5 | 1 | 1 | 2 650 | 12 | Heart failure and respiratory infection | Heart failure | c.134_136delinsCC | 40.1/18.9 | 5.7 | 0.9 | 4 | + | + | | BTHS 6 | 0 | 6 | 3 620 | Alive | - | Cardiomyopathy | c.324_325insCACTCC | 62/31 | 0.24 | 1.54 | 2.19 | + | + | | BTHS 7 | 4 | 6 | 2 500 | 6 | Sudden death | Growth delay | del TAZ | 48.1/23.2 | 2.24 | 4.24 | 2.09 | - | + | | BTHS 8 | 0 | 1 | 3 100 | Alive | - | Cardiomyopathy | c.718G>A | 46.2/21.5 | 1.51 | 1.84 | 2.68 | + | + | | BTHS 9 | 1 | 1 | 3 250 | 13 | Heart failure and respiratory infection | Diarrhea | c.589G>A | 41.1/19.2 | 3.56 | NA | 1.95 | + | - | | BTHS 10 | In utero | 2 | 2 550 | Alive | - | Cardiomyopathy | c.193A>G | 35/15 | 4.46 | -0.65 | 2.85 | + | + | | BTHS 11 | 4 | 4 | 2 400 | 5 | Heart failure | Heart failure | c.226C>T | 47.5/23.2 | 5.38 | 3.57 | 2.47 | - | - | | BTHS 12 | 5.5 | 5.5 | 2 500 | Alive | - | Pneumonia | c.207C>A | 44/21 | 4.65 | 2.27 | 2.4 | + | - | | BTHS 13 | 2 | 2 | 3 550 | alive | - | Heart failure | c.85G>A | 32.6/15 | 5.93 | 3.09 | 1.9 | + | - | | BTHS 14 | 1 | 1 | 3 050 | 7.5 | Sudden death | Cardiomyopathy | Del exon 3‒5 | 50.8/24.9 | 2.64 | 2.17 | 2 | - | - | | BTHS 15 | 5 | 5 | 3 210 | 17 | Sudden death | Diarrhea | c.777+1G>A | 20/8.6 | 5.22 | 2.84 | 1.63 | + | - | | BTHS 16 | In utero | 0 | 2 315 | 0.1 | Heart failure | Cardiomyopathy | c.699+1G>A | 26.4/11.7 | 6.28 | 0.92 | 2 | - | - | | BTHS 17 | 3 | 3 | 2 800 | Alive | - | Cardiomyopathy | c.589G>A | 61.4/31.3 | -0.02 | 4.41 | 1.94 | NA | + | | BTHS 18 | 4 | 4 | 4 150 | 6 | Heart failure | Feeding difficulties | c.367C>T | 41/19 | 4.93 | 4.22 | 1.5 | + | + |
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