Skip to main content

Advertisement

Log in

The first Chinese renal gelsolin amyloidosis with the p.Asp174Asn mutation in the GSN gene: Nephrology picture

  • Nephrology Picture
  • Published:
Journal of Nephrology Aims and scope Submit manuscript

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

Access this article

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

Instant access to the full article PDF.

Fig. 1
Fig. 2
Fig. 3

References

  1. Pihlamaa T, Sinikka S (2016) Increasing amount of amyloid are associated with the severity of clinical features in hereditary gelsolin (AGel) amyloidosis. Amyloid 23(4):225–233. https://doi.org/10.1080/13506129.2016.1238355

    Article  CAS  PubMed  Google Scholar 

  2. Kiuru S (1998) Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. Amyloid 5(1):55–66. doi:https://doi.org/10.3109/13506129809007291

    Article  CAS  PubMed  Google Scholar 

  3. Schmidt EK, Mustonen T, Kiuru-Enari S, Kivelä TT, Atula S (2020) Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study. Orphanet J Rare Dis 15(1):19. https://doi.org/10.1186/s13023-020-1300-5

    Article  PubMed  PubMed Central  Google Scholar 

  4. Yamanaka S, Yoichi M, Kasai K, Ikeda S-I, Kiuru-Enari S, Hosoya T (2013) Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases. Clin Kidney J 6(2):189–93. https://doi.org/10.1093/ckj/sft007

    Article  PubMed  PubMed Central  Google Scholar 

  5. Sethi S, Jason DT, Patrick Q, William M, Kurtin Paul J, Ahmet D, Edward WH (2013) Renal amyloidosis associated with a novel sequence variant of gelsolin. Am J Kidney Dis 61(1):161–166. https://doi.org/10.1053/j.ajkd.2012.07.016

    Article  CAS  PubMed  Google Scholar 

  6. Efebera YA, Sturm A, Baack EC et al (2014) Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred. Amyloid 21(2):110–112. https://doi.org/10.3109/13506129.2014.891502

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. James PS, Lesley JP, William EB, Jeffery WK (2012) Gelsolin amyloidosis: genetics, biochemistry, pathology and possible strategies for therapeutic intervention. Crit Rev Biochem Mol Biol 47(3):282–296. https://doi.org/10.3109/10409238.2012.661401

    Article  CAS  Google Scholar 

  8. Shoja MM, Ardalan MR, Tubbs RS, Kiuru-Enari S (2009) Outcome of renal transplant in hereditary gelsolin amyloidosis. Am J Med Sci 337(5):370–372. https://doi.org/10.1097/MAJ.0b013e3181a4199c

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

We would express our gratitude to National Clinical Research Center of Kidney Disease, Jinling Hospital which provided immunohistochemical help for us to detect amyloid substances in kidney tissues. Thank Laboratory of Electron Microscopy, Pathological Center, Peking University First Hospital to provide the help of laser microdissection and mass spectrometry. The present work is supported by the National Natural Science Foundation of China (Grant No. 81200490), Jiangsu Province Traditional Chinese medicine science and technology development plan project (Grant No.YB201985) and Research Innovation Program for Postgraduates in Jiangsu Province (Grant No. SJCX19_0874).

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Li Yuan.

Ethics declarations

Conflict of interest

No potential conflict of interest is reported by the authors.

Ethical approval

Informed consent has been obtained from the patient.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Zhang, R., Shang, F., Li, D. et al. The first Chinese renal gelsolin amyloidosis with the p.Asp174Asn mutation in the GSN gene: Nephrology picture. J Nephrol 34, 1257–1259 (2021). https://doi.org/10.1007/s40620-020-00873-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s40620-020-00873-3

Keywords

Navigation