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Case Reports
. 2021 Mar 5;14(3):e240288.
doi: 10.1136/bcr-2020-240288.

Nephrotic syndrome secondary to alpha-1 antitrypsin deficiency

Gabriela F Santos  1 , Paul Ellis  2   3 , Daniela Farrugia  4 , Alice M Turner  5   3
Affiliations
Case Reports

Nephrotic syndrome secondary to alpha-1 antitrypsin deficiency

Gabriela F Santos et al. BMJ Case Rep. .

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.

Keywords: genetics; nephrotic syndrome; pulmonary emphysema.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
Kidney biopsy results from light microscopy and electron microscopy. Light microscopy images did not actually showed a diagnosis of MN, with H&E stain (A) showing absence of thickening of GBM (arrows), and silver stain (B) showing absence of spikes along the GBM (arrow). When electron microscopy (C) was performed, small, electron dense, subepithelial deposits were observed with a strong diffuse granular IgG along the GBM (arrows), compatible with MN. GBM, glomerular basement membrane; MN, membranous nephropathy; H&E, Hematoxylin & Eosin.
See this image and copyright information in PMC

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