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Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis

Key takeaways

This is a report on one 28-year-old woman with a rare genetic kidney condition. Her kidneys were small and lacked the usual cysts. The report highlights how early genetic testing can help diagnose this disorder. There are no new trial results here, just a single patient story.

Who did this work

Filip Koszałka (Medical University of Lublin) · Aleksandra Gałan (Medical University of Lublin) · Amir Nour Mohammadi (Medical University of Lublin) · Jagoda Góra (Medical University of Lublin) · Izabela Natalia Zakrocka (Medical University of Lublin) · Agnieszka Korolczuk (Medical University of Lublin) · Wojciech Załuska (Medical University of Lublin)

Source

Article · OpenAlex, CKD works · 2026-09-28
https://doi.org/10.3390/jcm15197537