HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter ... View Full Text


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Article Info

DATE

2019-01-21

AUTHORS

Christine Okorn, Anne Goertz, Udo Vester, Bodo B. Beck, Carsten Bergmann, Sandra Habbig, Jens König, Martin Konrad, Dominik Müller, Jun Oh, Nadina Ortiz-Brüchle, Ludwig Patzer, Raphael Schild, Tomas Seeman, Hagen Staude, Julia Thumfart, Burkhard Tönshoff, Ulrike Walden, Lutz Weber, Marcin Zaniew, Hildegard Zappel, Peter F. Hoyer, Stefanie Weber

ABSTRACT

BACKGROUND: HNF1B gene mutations are an important cause of bilateral (cystic) dysplasia in children, complicated by chronic renal insufficiency. 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 probands with genetically proven HNF1B nephropathy was obtained in a multicenter approach. Genetic family cascade screening was performed in 30/62 cases. RESULTS: Eighty-seven percent of 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 glomerular filtration rate (GFR) loss of - 0.33 ml/min/1.73m2 per year (± 8.9). In patients with an increase in cyst number, the annual GFR reduction was - 2.8 ml/min/1.73m2 (± 13.2), in the total cohort - 1.0 ml/min/1.73m2 (±10.3). A subset of HNF1B patients differs from this group and develops end stage renal disease (ESRD) at very early ages < 2 years. Hyperuricemia (37%) was a frequent finding at young age (median 1 year), whereas hypomagnesemia (24%), elevated liver enzymes (21%), and hyperglycemia (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 81% of maternal inheritance in dominant cases. CONCLUSIONS: In most children, HNF1B nephropathy has a non-progressive course of cyst development and a slow-progressive course of kidney function. A subgroup of patients developed ESRD at very young age < 2 years requiring special medical attention. The parent-of-origin effect suggests an influence of epigenetic modifiers in HNF1B disease. More... »

PAGES

1-11

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  • Identifiers

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    http://scigraph.springernature.com/pub.10.1007/s00467-018-4188-8

    DOI

    http://dx.doi.org/10.1007/s00467-018-4188-8

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1111577194

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30666461


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    416 Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    417 rdf:type schema:Organization
    418 https://www.grid.ac/institutes/grid.7708.8 schema:alternateName University Medical Center Freiburg
    419 schema:name Bergmann Laboratory, University Medical Center Freiburg, Freiburg, Germany
    420 rdf:type schema:Organization
     




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