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Case report
Nephrotic syndrome secondary to alpha-1 antitrypsin deficiency
  1. Gabriela F Santos1,
  2. Paul Ellis2,3,
  3. Daniela Farrugia4 and
  4. Alice M Turner2,3
  1. 1Pneumonology Department, Hospital Garcia de Orta EPE, Almada, Portugal
  2. 2Respiratory Medicine, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
  3. 3Institute of Applied Health Research, University of Birmingham, Birmingham, UK
  4. 4Kidney Unit, University Hospitals of North Midlands NHS Trust, Stoke-on-Trent, UK
  1. Correspondence to Dr Alice M Turner; a.m.turner{at}bham.ac.uk

Abstract

We report a 64-year-old caucasian woman diagnosed with membranous nephropathy secondary to alpha-1 antitrypsin deficiency (AATD). AATD is a rare autosomal codominant genetic disorder. Its clinical manifestations are mostly observed in the lungs, with early-onset emphysema. Nephropathy due to AATD is still very rare and only a few cohort studies have been reported. It has been recognised that alpha-1 antitrypsin has a protective role in the kidneys which enhances the possibility of development of kidney failure, such as nephrotic syndrome, in cases of AATD. Further clinical investigation is needed to understand the relationship between the development of nephropathy, namely membranous nephropathy, and AATD.

  • pulmonary emphysema
  • nephrotic syndrome
  • genetics

https://doi.org/10.1136/bcr-2020-240288

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    Footnotes

    • Contributors All coauthors have actively participated in the writing, discussion and revision of the manuscript. GFS participated in the writing, conceiving, discussion and revision of the manuscript; PE and DF participated in conceiving, discussion and revising it critically for important intellectual content and AMT participated in revising it critically for important intellectual content and final approval of the version to be submitted.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.