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Abstract: FR-PO675

Kidney Survival in Pediatric Patients with Pathogenic Hepatocyte Nuclear Factor 1β Variants

Session Information

  • Pediatric Nephrology - II
    November 03, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
    Abstract Time: 10:00 AM - 12:00 PM

Category: Pediatric Nephrology

  • 1900 Pediatric Nephrology


  • Schanstra, Joost, Inserm U1297, Toulouse, France
  • Buffin-Meyer, Benedicte, Inserm U1297, Toulouse, France
  • Richard, Juliette, CHU de Toulouse, Toulouse, France
  • König, Jens, University Children's Hospital, Münster, Germany
  • Schaefer, Franz S., Universitat Heidelberg, Heidelberg, Baden-Württemberg, Germany
  • Heidet, Laurence, Hôpital Necker-Enfants Malades, Paris, France
  • Decramer, Stéphane, CHU de Toulouse, Toulouse, France

Group or Team Name

  • HNF1B Study Group.

Hepatocyte nuclear factor 1β (HNF1B) gene variants represent the most common monogenic cause of developmental kidney disease. Identification of specific genotype-phenotype associations in HNF1B disease would inform genetic counselling. The objective of this study was to determine whether the HNF1B mutation type is associated with kidney survival.


This was a retrospective observational study involving 521 patients from 14 European countries using the European ERKNet-ERN network. Mean follow-up time was 7.7 years with 6.2 visits per patient. The primary end point was progression to chronic kidney disease (CKD) stage 3 (eGFR<60 mL/min/1.73m2). Secondary endpoints were the development of extra renal abnormalities including hypomagnesemia, hyperuricemia and hyperglycemia.


Progression towards CKD-stage 3 was significantly delayed in patients with the 17q12 deletion compared to patients with other pathogenic HNF1B variants (HR 0.31 (95%CI: 0.20-0.47), p<0.001). Presence of only one functional kidney due to a contralateral multicystic dysplastic kidney or agenesis was associated with accelerated CKD progression (p=0.028). Interestingly, the 17q12 deletion conferred a significant better kidney function than the other HNF1B variants already in the neonatal period. Finally, the 17q12 deletion was associated with hypomagnesemia (HR 2.49, 95%CI:1.57-4.03, p<0.001), but not with hyperuricemia or hyperglycemia.


Pediatric patients with the 17q12 deletion and two functional kidneys display a significantly better kidney survival than patients with other pathogenic HNF1B variants. We identified the first clinically relevant HNF1B genotype-phenotype correlation that informs genetic counselling of pediatric patients.