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Abstract: FR-PO972

ADTKD-HNF1B Has a Slow-Progressive Phenotype in Childhood—with the Exception of Very Early Onset Cases: Results of the German Multicenter HNF1B Childhood Registry

Session Information

Category: Genetic Diseases of the Kidney

  • 1001 Genetic Diseases of the Kidney: Cystic

Authors

  • Weber, Stefanie, University Children's Hospital Marburg, Marburg, Germany
  • Okorn, Christine, University Hospital Essen , Essen, Germany
  • Kömhoff, Martin, University Children's Hospital Marburg, Marburg, Germany
  • Hoyer, Peter F., University Hospital Essen , Essen, Germany

Group or Team Name

  • HNF1B Registry Study Group
Background

HNF1B nephropathy is part of the autosomal dominant tubulointerstitial kidney disease spectrum (ADTKD) and affects pediatric patients with bilateral (cystic) dysplasia. The clinical variability, the absence of genotype-phenotype correlations, and limited long-term data render counseling of affected families difficult.

Methods

Longitudinal data of 62 children with ADTKD-HNF1B was obtained in a multicenter approach. Genetic family analysis was performed in 30/62 cases.

Results

87% of ADTKD-HNF1B patients had bilateral dysplasia, 74% visible bilateral and 16% unilateral renal cysts at the end of observation. Cyst development was non-progressive in 72% with a mean GFR loss of -0.33 ml/min/1.73qm per year (±8.9). In patients with an increase in cyst number, the annual GFR reduction was -2.8 ml/min/1.73qm (±13.2), in the total cohort -1.0 ml/min/1.73qm (±10.3). A subset of ADTKD-HNF1B patients differs from this group and develops ESRD at very early ages < 2 years. Hyperuricaemia (37%) was a frequent finding at young age (median 1 year), whereas hypomagnesemia (24%), elevated liver enzymes (21%) and hyperglycaemia (8%) showed an increased incidence in the teenaged child. Genetic analysis revealed no genotype-phenotype correlations but a significant parent-of-origin effect with a preponderance of 78% of maternal inheritance in dominant cases.

Conclusion

In most children, ADTKD-HNF1B has a non-progressive course of cyst development and a slow-progressive course of kidney function. A subgroup of patients develops ESRD at very young age < 2years requiring special medical attention. Patients will be annually followed in the registry and new patients can be included at any time.

Funding

  • Government Support - Non-U.S.