biostudies-literatureUnknown10(12)Cleper R<h4>Background</h4><i>HNF1B</i> deletion/intragenic mutations are the most commonly identified genetic cause of congenital anomalies of the kidney and urinary tract (CAKUT) suggested by fetal ultrasound findings such as: parenchymal hyperechogenicity, overt cystic changes or gross morphological urinary system (UT) abnormalities. The postnatal evolution of these 17q12 deletions encompassing the <i>HNF1B</i> gene-associated findings has not been assessed in depth.<h4>Methods</h4>In this observational study, we present postnatal follow-up findings in 5 of 6 cases (one pregnancy was terminated on parental request) of fetal-onset cystic/hyperechogenic kidneys eventually diagnosed with 17q12 microdeletion encompassing the <i>HNF1B</i> gene between 2009 and 2017.<h4>Results</h4>Complete normalizaTranslational pediatrics3130-3139https://www.ebi.ac.uk/biostudies/studies/S-EPMC8753471biostudies-literatureImproving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the <i>HNF1B</i> gene.PMC8753471Cleper RSimchoni SReisman LBrabbing-Goldstein DBen-Sira LReches AYaron YShapira DBen-Shachar SWolman IMalinger GfalseImproving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the <i>HNF1B</i> gene.<h4>Background</h4><i>HNF1B</i> deletion/intragenic mutations are the most commonly identified genetic cause of congenital anomalies of the kidney and urinary tract (CAKUT) suggested by fetal ultrasound findings such as: parenchymal hyperechogenicity, overt cystic changes or gross morphological urinary system (UT) abnormalities. The postnatal evolution of these 17q12 deletions encompassing the <i>HNF1B</i> gene-associated findings has not been assessed in depth.<h4>Methods</h4>In this observational study, we present postnatal follow-up findings in 5 of 6 cases (one pregnancy was terminated on parental request) of fetal-onset cystic/hyperechogenic kidneys eventually diagnosed with 17q12 microdeletion encompassing the <i>HNF1B</i> gene between 2009 and 2017.<h4>Results</h4>Complete normaliza2021-01-01T00:00:00Z2021 Dec2025-04-26T18:31:55.781Z2025-02-19T04:07:16.029ZS-EPMC87534713507082610.21037/tp-21-386