Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group

doi:10.1038/s41431-020-0642-8

. 2020 Oct;28(10):1368-1378.

doi: 10.1038/s41431-020-0642-8. Epub 2020 May 28.

Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group

Beata Stefania Lipska-Ziętkiewicz^#^{1

2}, Fatih Ozaltin^#³, Tuula Hölttä⁴, Detlef Bockenhauer⁵, Sandra Bérody⁶, Elena Levtchenko⁷, Marina Vivarelli⁸, Hazel Webb⁵, Dieter Haffner^{9

10}, Franz Schaefer¹¹, Olivia Boyer^{6

12}

Affiliations

¹ Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdańsk, Gdańsk, Poland. b.lipska@gumed.edu.pl.
² Centre for Rare Diseases, Medical University of Gdańsk, Gdańsk, Poland. b.lipska@gumed.edu.pl.
³ Department of Pediatric Nephrology and Nephrogenetics Laboratory, Hacettepe University Faculty of Medicine, Ankara, Turkey. fozaltin@hacettepe.edu.tr.
⁴ Department of Pediatric Nephrology and Transplantation, The New Children's Hospital, HUS Helsinki University Hospital, Helsinki, Finland.
⁵ UCL Department of Renal Medicine and Renal Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
⁶ Department of Pediatric Nephrology, Reference Center for Hereditary Kidney Diseases (MARHEA), Necker Hospital, APHP, 75015, Paris, France.
⁷ Division of Pediatric Nephrology, Department of Pediatrics, University Hospitals Leuven; Department of Development & Regeneration, University of Leuven, Leuven, Belgium.
⁸ Division of Nephrology and Dialysis, Department of Pediatric Subspecialties, Bambino Gesù Pediatric Hospital and Research Center, Rome, Italy.
⁹ Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School Children's Hospital, Hannover, Germany.
¹⁰ Center for Congenital Kidney Diseases, Center for Rare Diseases, Hannover Medical School, Hannover, Germany.
¹¹ Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany. Franz.Schaefer@med.uni-heidelberg.de.
¹² Laboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM, Paris Descartes University, U1163, Paris, France.

^# Contributed equally.

PMID: 32467597
PMCID: PMC7608398
DOI: 10.1038/s41431-020-0642-8

Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group

Beata Stefania Lipska-Ziętkiewicz et al. Eur J Hum Genet. 2020 Oct.

. 2020 Oct;28(10):1368-1378.

doi: 10.1038/s41431-020-0642-8. Epub 2020 May 28.

Authors

Affiliations

¹ Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdańsk, Gdańsk, Poland. b.lipska@gumed.edu.pl.
² Centre for Rare Diseases, Medical University of Gdańsk, Gdańsk, Poland. b.lipska@gumed.edu.pl.
³ Department of Pediatric Nephrology and Nephrogenetics Laboratory, Hacettepe University Faculty of Medicine, Ankara, Turkey. fozaltin@hacettepe.edu.tr.
⁴ Department of Pediatric Nephrology and Transplantation, The New Children's Hospital, HUS Helsinki University Hospital, Helsinki, Finland.
⁵ UCL Department of Renal Medicine and Renal Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
⁶ Department of Pediatric Nephrology, Reference Center for Hereditary Kidney Diseases (MARHEA), Necker Hospital, APHP, 75015, Paris, France.
⁷ Division of Pediatric Nephrology, Department of Pediatrics, University Hospitals Leuven; Department of Development & Regeneration, University of Leuven, Leuven, Belgium.
⁸ Division of Nephrology and Dialysis, Department of Pediatric Subspecialties, Bambino Gesù Pediatric Hospital and Research Center, Rome, Italy.
⁹ Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School Children's Hospital, Hannover, Germany.
¹⁰ Center for Congenital Kidney Diseases, Center for Rare Diseases, Hannover Medical School, Hannover, Germany.
¹¹ Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany. Franz.Schaefer@med.uni-heidelberg.de.
¹² Laboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM, Paris Descartes University, U1163, Paris, France.

^# Contributed equally.

PMID: 32467597
PMCID: PMC7608398
DOI: 10.1038/s41431-020-0642-8

Abstract

Congenital nephrotic syndrome (CNS) is a heterogeneous group of disorders presenting with massive proteinuria within the first 3 months of life almost inevitably leading to end-stage kidney disease. The Work Group for the European Reference Network for Kidney Diseases (ERKNet) and the European Society for Pediatric Nephrology (ESPN) has developed consensus statement on genetic aspects of CNS diagnosis and management. The presented expert opinion recommends genetic diagnostics as the key diagnostic test to be ordered already during the initial evaluation of the patient, discusses which phenotyping workup should be performed and presents known genotype-phenotype correlations.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

**Fig. 1. Algorithm for genetic diagnosis in individuals with congenital nephrotic syndrome.**
Asterisk [*]: applicable for populations where founder mutations have already been well described.

See this image and copyright information in PMC

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References

1. Holmberg C, Antikainen M, Rönnholm K, Ala Houhala M, Jalanko H. Management of congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol. 1995;9:87–93. - PubMed
1. Büscher AK, Weber S. Educational paper: the podocytopathies. Eur J Pediatr. 2012;171:1151–60. - PubMed
1. Ahvenainen EK, Hallman N, Hjelt L. Nephrotic syndrome in newborn and young infants. Ann Paediatr Fenn. 1956;2:227–41. - PubMed
1. Lenkkeri U, Männikkö M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, et al. Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. Am J Hum Genet. 1999;64:51–61. - PMC - PubMed
1. Jalanko H. Congenital nephrotic syndrome. Pediatr Nephrol. 2009;24:2121–8. - PMC - PubMed

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[1] Holmberg C, Antikainen M, Rönnholm K, Ala Houhala M, Jalanko H. Management of congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol. 1995;9:87–93. - PubMed

[2] Holmberg C, Antikainen M, Rönnholm K, Ala Houhala M, Jalanko H. Management of congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol. 1995;9:87–93. - PubMed

[3] Büscher AK, Weber S. Educational paper: the podocytopathies. Eur J Pediatr. 2012;171:1151–60. - PubMed

[4] Büscher AK, Weber S. Educational paper: the podocytopathies. Eur J Pediatr. 2012;171:1151–60. - PubMed

[5] Ahvenainen EK, Hallman N, Hjelt L. Nephrotic syndrome in newborn and young infants. Ann Paediatr Fenn. 1956;2:227–41. - PubMed

[6] Ahvenainen EK, Hallman N, Hjelt L. Nephrotic syndrome in newborn and young infants. Ann Paediatr Fenn. 1956;2:227–41. - PubMed

[7] Lenkkeri U, Männikkö M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, et al. Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. Am J Hum Genet. 1999;64:51–61. - PMC - PubMed

[8] Lenkkeri U, Männikkö M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, et al. Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. Am J Hum Genet. 1999;64:51–61. - PMC - PubMed

[9] Jalanko H. Congenital nephrotic syndrome. Pediatr Nephrol. 2009;24:2121–8. - PMC - PubMed

[10] Jalanko H. Congenital nephrotic syndrome. Pediatr Nephrol. 2009;24:2121–8. - PMC - PubMed

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Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group

Affiliations

Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group

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Affiliations

Abstract

Conflict of interest statement

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Abstract

Conflict of interest statement

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