Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys
Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys
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DOI：
10.1681/asn.2006091057
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发表时间：
2007-03-01
影响因子：
13.6
通讯作者：
Bellanne-Chantelot, Christine
中科院分区：
文献类型：
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作者：
Decramer, Stephane;Parant, Olivier;Bellanne-Chantelot, Christine
胎儿双侧强回声肾的产前发现对孕妇及其家庭来说是非常有压力的，并且这种病理的中度形式的原因的准确诊断是非常困难的。由TCF 2基因编码的肝细胞核因子-1 β参与肾脏的胚胎发育。本文报告62例胎儿双侧强回声肾，其中25例诊断不准确。在这62例患者中，有18例（29%）检测到TCF 2基因异常，其中15例TCF 2基因完全杂合缺失。家族筛查显示，超过一半的患者新发TCF 2异常。在所有患者中，TCF 2异常与正常羊水量和正常大小的肾脏（-2和+2 SD之间）相关，除了两个姐妹篇。18例患者中有11例检测到尿道囊肿，11例患者中有8例为单侧囊肿。出生后，囊肿出现在第一年（17/18），在产前囊肿的患者中，数量增加，双侧发展，肾脏生长减少。在这18例患者中，GFR随着随访时间的延长而降低，并且在孤立功能性发育不良肾患者中更低。TCF 2基因的杂合性缺失是本研究中胎儿高回声肾的重要原因，并显示与早期疾病表达有关。肾脏表型和出生后的演变是非常可变的，需要一个前瞻性的长期随访。肾外表现在TCF 2相关的病理中是常见的。因此，产前咨询和随访应是多学科的。
Prenatal discovery of fetal bilateral hyperechogenic kidneys is very stressful for pregnant women and their family, and accurate diagnosis of the cause of the moderate forms of this pathology is very difficult. Hepatocyte nuclear factor-1 beta that is encoded by the TCF2 gene is involved in the embryonic development of the kidneys. Sixty-two pregnancies with fetal bilateral hyperechogenic kidneys including 25 fetuses with inaccurate diagnosis were studied. TCF2 gene anomalies were detected in 18 (29%) of these 62 patients, and 15 of these 18 patients presented a complete heterozygous deletion of the TCF2 gene. Family screening revealed de novo TCF2 anomalies in more than half of the patients. TCF2 anomalies were associated with normal amniotic fluid volume and normal-sized kidneys between -2 and +2 SD in all patients except for two sisters. Antenatal cysts were detected in 11 of 18 patients, unilaterally in eight of 11. After birth, cysts appeared during the first year (17 of 18), and in patients with antenatal cysts, the number increased and developed bilaterally with decreased renal growth. In these 18 patients, the GFR decreased with longer follow-up and was lower in patients with solitary functioning dysplastic kidney. Heterozygous deletion of the TCF2 gene is an important cause of fetal hyperechogenic kidneys in this study and showed to be linked with early disease expression. The renal phenotype and the postnatal evolution were extremely variable and need a prospective long-term follow-up. Extrarenal manifestations are frequent in TCF2-linked pathologies. Therefore, prenatal counseling and follow-up should be multidisciplinary.