Work

Rare Combination of PKD and precocious puberty in a HNF1B mutated little girl

Year: 2026

Type: article

Abstract: Among the genes involved in ADKPD, HNF1B encodes a transcription factor implicated in kidneys morphogenesis. Here, we present the case of a little girl with multiple renal cysts diagnosed in utero; at 4 years the genetic testing by NGS revealed the rare pathogenic variant c.1462C > T in the HNF1 gene; additionally, overweight and precocious puberty with appearance of pubic hair were suspected. At 7 years, she was obese with right breast bud, adipomastia and accelerated growth. Our experience highlights the diagnostic difficulties associated with an atypical PKD phenotype and underlines the importance of a holistic approach including diagnosis and early therapies.

Source: Urology Case Reports

DOI: 10.1016/j.eucr.2026.103353

Authors: Ersilia Nigro, Rosamunda D'Arcangelo, Antonio Pisani, Gabriele Malgieri, Aurora Daniele

Institutions: University of Campania "Luigi Vanvitelli", CEINGE Biotecnologie Avanzate Franco Salvatore (Italy), Santobono Children's Hospital, Federico II University Hospital, University of Naples Federico II

Language: English

Topic: Genetic and Kidney Cyst Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,160