Article
From mutation to symptoms: a multi-center study on HNF1B-related nephropathy in Chinese children.
BMC nephrology - 23 Dec 2025
Zhang Hongying, Wang Chunyan, Jiang Xiaoyun, Gao Xiaojie, Tang Xiaoshan, Liu Jiaojiao, Dai Rufeng, Liu Jialu, Liao Panli, Huang Lin, Yang Huihui, Zhang Aihua, Shen Qian, Wang Xiaowen, Xu Hong
Abstract excerpt
BACKGROUND: Hepatocyte nuclear factor 1β (HNF1B) pathogenic variants constitute a major genetic contributor to congenital anomalies of the kidney and urinary tract (CAKUT), with patients simultaneously exhibiting distinct extrarenal features. Among these clinical manifestations, renal disease progression is crucial for long-term outcomes, needing comprehensive evaluation. METHODS: Using the Chinese Children...
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