Article
Two cases of fetal hyperechogenic kidneys who had HNF1-β gene variation.
Clinical nephrology - 1 Dec 2022
Li Huarong, Chen Chaoying, Tu Juan, Geng Haiyun, Lin TianTian
Abstract excerpt
We report two cases of HNF1-β gene variation diagnosed in infancy, in whom fetal ultrasonography revealed enhanced echogenicity and multiple cysts in the renal parenchyma of both patients. They were initially diagnosed as autosomal recessive polycystic kidney disease. Gene testing showed a variation of HNF1-β gene, one showed chromosome 17q12 deletion including HNF1-β, the other was a de novo nonsense mutation in...
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