Skip to main content

Advertisement

SpringerLink
Log in

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR

  • Brief Report
  • Published:
Pediatric Nephrology Aims and scope Submit manuscript

Abstract

Background

Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome, rapidly progressing to end-stage renal failure.

Case-Diagnosis/Treatment

We report a minor variant of Pierson syndrome in a teenage girl with severe myopia since early infancy and proteinuria first detected at age 6. At the age of 11 she was found to carry a unique homozygous non-truncating LAMB2 mutation in exon 2: c.T240G (p.S80R). Renal biopsy revealed mild diffuse mesangial sclerosis and residual expression of laminin β2. Today at age 14, on treatment with angiotensin-converting enzyme inhibitors and angiotensin receptor blockers, she continues to have nephrotic range proteinuria, but a normal glomerular filtration rate.

Conclusions

LAMB2 mutations should be considered in all patients with glomerular proteinuria and abnormal ocular phenotype, irrespective of age and disease severity.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

References

  1. Pierson M, Cordier J, Hervoue F, Rauber G (1963) Une curieuse association malformative congenitale et familiale atteignant l'oeil et le rein. J Genet Hum 12:184–213

    PubMed  CAS  Google Scholar 

  2. Wuhl E, Kogan J, Zurowska A, Matejas V, Vandevoorde RG, Aigner T, Wendler O, Lesniewska I, Bouvier R, Reis A, Weis J, Cochat P, Zenker M (2007) Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. Am J Med Genet A 143:311–319

    PubMed  Google Scholar 

  3. Zenker M, Aigner T, Wendler O, Tralau T, Muntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wuhl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dotsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A (2004) Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 13:2625–2632

    Article  PubMed  CAS  Google Scholar 

  4. Schwartz GJ, Gauthier B (1985) A simple estimate of glomerular filtration rate in adolescent boys. J Pediatr 106:522–526

    Article  PubMed  CAS  Google Scholar 

  5. Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Blahova K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dotsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Broking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wuhl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M (2010) Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat 31:992–1002

    Article  PubMed  CAS  Google Scholar 

  6. Tunggal P, Smyth N, Paulsson M, Ott MC (2000) Laminins: structure and genetic regulation. Microsc Res Tech 51:214–227

    Article  PubMed  CAS  Google Scholar 

  7. Chen YM, Kikkawa Y, Miner JH (2011) A Missense LAMB2 Mutation Causes Congenital Nephrotic Syndrome by Impairing Laminin Secretion. J Am Soc Nephrol 22:849–858

    Article  PubMed  CAS  Google Scholar 

  8. Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M (2008) A milder variant of Pierson syndrome. Pediatr Nephrol 23:323–327

    Article  PubMed  Google Scholar 

  9. Choi HJ, Lee BH, Kang JH, Jeong HJ, Moon KC, Ha IS, Yu YS, Matejas V, Zenker M, Choi Y, Cheong HI (2008) Variable phenotype of Pierson syndrome. Pediatr Nephrol 23:995–1000

    Article  PubMed  Google Scholar 

  10. Matejas V, Al-Gazali L, Amirlak I, Zenker M (2006) A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2. Nephrol Dial Transplant 21:3283–3286

    Article  PubMed  CAS  Google Scholar 

  11. Bredrup C, Matejas V, Barrow M, Blahova K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonca EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietlinski J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I (2008) Ophthalmological aspects of Pierson syndrome. Am J Ophthalmol 146:602–611

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

This work was supported by a grant from the German Research Foundation (DFG; SFB 423 TP B19) to M.Z. We thank Prof. Dr. Udo Helmchen from the Institute of Pathology at the University Medical Center Hamburg-Eppendorf for providing histology results.

The authors declare that they do not have any conflicts of interest and that the results presented in this paper have not been published previously in whole or part, except in abstract form.

Author information

Authors and Affiliations

  1. Department of Pediatric Nephrology, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany

    Anja Lehnhardt, Albert Lama & Markus J. Kemper

  2. Department of Pathology, University Erlangen, Krankenhausstrasse12, 91054, Erlangen, Germany

    Kerstin Amann

  3. Institute of Human Genetics, University Hospital Erlangen, Schwabachanlage 10, 91054, Erlangen, Germany

    Verena Matejas & Martin Zenker

  4. Institute of Human Genetics, University Hospital Magdeburg, Leipziger Strasse 44, 39120, Magdeburg, Germany

    Martin Zenker

Authors
  1. Anja Lehnhardt
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Albert Lama
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Kerstin Amann
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Verena Matejas
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Martin Zenker
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Markus J. Kemper
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Anja Lehnhardt.

Additional information

Martin Zenker and Markus J. Kemper contributed equally

Rights and permissions

Reprints and permissions

About this article

Cite this article

Lehnhardt, A., Lama, A., Amann, K. et al. Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. Pediatr Nephrol 27, 865–868 (2012). https://doi.org/10.1007/s00467-011-2088-2

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00467-011-2088-2

Keywords

Search

Navigation