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HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.

Standard

HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry. / Okorn, Christine; Goertz, Anne; Vester, Udo; Beck, Bodo B; Bergmann, Carsten; Habbig, Sandra; König, Jens; Konrad, Martin; Müller, Dominik; Oh, Jun; Ortiz-Brüchle, Nadina; Patzer, Ludwig; Schild, Raphael; Seeman, Tomas; Staude, Hagen; Thumfart, Julia; Tönshoff, Burkhard; Walden, Ulrike; Weber, Lutz; Zaniew, Marcin; Zappel, Hildegard; Hoyer, Peter F; Weber, Stefanie.

in: PEDIATR NEPHROL, Jahrgang 34, Nr. 6, 06.2019, S. 1065-1075.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Okorn, C, Goertz, A, Vester, U, Beck, BB, Bergmann, C, Habbig, S, König, J, Konrad, M, Müller, D, Oh, J, Ortiz-Brüchle, N, Patzer, L, Schild, R, Seeman, T, Staude, H, Thumfart, J, Tönshoff, B, Walden, U, Weber, L, Zaniew, M, Zappel, H, Hoyer, PF & Weber, S 2019, 'HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.', PEDIATR NEPHROL, Jg. 34, Nr. 6, S. 1065-1075. https://doi.org/10.1007/s00467-018-4188-8

APA

Okorn, C., Goertz, A., Vester, U., Beck, B. B., Bergmann, C., Habbig, S., König, J., Konrad, M., Müller, D., Oh, J., Ortiz-Brüchle, N., Patzer, L., Schild, R., Seeman, T., Staude, H., Thumfart, J., Tönshoff, B., Walden, U., Weber, L., ... Weber, S. (2019). HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry. PEDIATR NEPHROL, 34(6), 1065-1075. https://doi.org/10.1007/s00467-018-4188-8

Vancouver

Okorn C, Goertz A, Vester U, Beck BB, Bergmann C, Habbig S et al. HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry. PEDIATR NEPHROL. 2019 Jun;34(6):1065-1075. https://doi.org/10.1007/s00467-018-4188-8

Bibtex

@article{6e225fa1712f44e99985a0125e80de56,
title = "HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.",
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.",
author = "Christine Okorn and Anne Goertz and Udo Vester and Beck, {Bodo B} and Carsten Bergmann and Sandra Habbig and Jens K{\"o}nig and Martin Konrad and Dominik M{\"u}ller and Jun Oh and Nadina Ortiz-Br{\"u}chle and Ludwig Patzer and Raphael Schild and Tomas Seeman and Hagen Staude and Julia Thumfart and Burkhard T{\"o}nshoff and Ulrike Walden and Lutz Weber and Marcin Zaniew and Hildegard Zappel and Hoyer, {Peter F} and Stefanie Weber",
year = "2019",
month = jun,
doi = "10.1007/s00467-018-4188-8",
language = "English",
volume = "34",
pages = "1065--1075",
journal = "PEDIATR NEPHROL",
issn = "0931-041X",
publisher = "Springer",
number = "6",

}

RIS

TY - JOUR

T1 - HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.

AU - Okorn, Christine

AU - Goertz, Anne

AU - Vester, Udo

AU - Beck, Bodo B

AU - Bergmann, Carsten

AU - Habbig, Sandra

AU - König, Jens

AU - Konrad, Martin

AU - Müller, Dominik

AU - Oh, Jun

AU - Ortiz-Brüchle, Nadina

AU - Patzer, Ludwig

AU - Schild, Raphael

AU - Seeman, Tomas

AU - Staude, Hagen

AU - Thumfart, Julia

AU - Tönshoff, Burkhard

AU - Walden, Ulrike

AU - Weber, Lutz

AU - Zaniew, Marcin

AU - Zappel, Hildegard

AU - Hoyer, Peter F

AU - Weber, Stefanie

PY - 2019/6

Y1 - 2019/6

N2 - 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.

AB - 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.

U2 - 10.1007/s00467-018-4188-8

DO - 10.1007/s00467-018-4188-8

M3 - SCORING: Journal article

C2 - 30666461

VL - 34

SP - 1065

EP - 1075

JO - PEDIATR NEPHROL

JF - PEDIATR NEPHROL

SN - 0931-041X

IS - 6

ER -