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Chandramohan et al. J Transl Genet Genom 2024;8:394-404 Journal of Translational
DOI: 10.20517/jtgg.2024.38
Genetics and Genomics

Original Article Open Access

The underdiagnosed kidney burden of Fabry disease
in females

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Deepak Chandramohan , Marcus Moreman , Salam Madi , Fatima Huma , Massoud Ahmad , Christina
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Singleton , David G. Warnock , Eric Wallace 1
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Department of Medicine, Division of Nephrology, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
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Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
Correspondence to: Prof. Eric Wallace, Division of Nephrology, Department of Medicine, University of Alabama at Birmingham,
728 Richard Arrington Jr Blvd S, Birmingham, AL 35294, USA. E-mail: elwallace@uabmc.edu
How to cite this article: Chandramohan D, Moreman M, Madi S, Huma F, Ahmad M, Singleton C, Warnock DG, Wallace E. The
underdiagnosed kidney burden of Fabry disease in females. J Transl Genet Genom 2024;8:394-405. https://dx.doi.org/10.20517/
jtgg.2024.38
Received: 25 Jul 2024 First Decision: 24 Sep 2024 Revised: 24 Oct 2024 Accepted: 2 Dec 2024 Published: 24 Dec 2024
Academic Editor: Sanjay Gupta Copy Editor: Ping Zhang Production Editor: Ping Zhang

Abstract
Aim: Progressive kidney deterioration can occur in females with Fabry disease. Despite this, many females go
undiagnosed or are labeled “carriers”. Our study aimed to review biopsy findings of adult female Fabry patients
with creatinine values within the “normal reference ranges” and minimal proteinuria.

Methods: This study was a single-center retrospective analysis of female patients presenting to the University of
Alabama at Birmingham. Kidney biopsies and clinical characteristics were reviewed. Kidney biopsies were scored
using the Fogo scoring system.

Results: All of the 13 participants had classic mutations (11 nonsense, 2 missense). The mean age was 31.7 years.
The median serum creatinine was 0.7 mg/dL (0.5-1.2), and estimated glomerular filtration rate (eGFR) values
calculated using the chronic kidney disease epidemiology collaboration (CKD-EPI) equation ranged from 56 to 130
2
ml/min/1.73m . The serologic biomarkers were not elevated in any of the patients - plasma
globotriaosylsphingosine (Lyso GL-3) was < 5.1 ng/mL and globotriaosylceramide (GL-3) was < 3 µg/mL. The
average score for the biopsies per the International Study Group of Fabry Nephropathy (ISGFN) was 2.43. Thirty-
eight percent of patients had greater than 50% foot process effacement despite normal creatinine and minimal
proteinuria.

© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.

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