IgA nephropathy with mimicking Fabry disease: A case report and literature review

Sun，Liping1,2; Zi，Xinyi1,2; Wang，Zhen1,2; Zhang，Xinzhou1,2

2022-10-21

10.1097/MD.0000000000031060

MEDICINE   Impact Factor & Quartile

0025-7974

1536-5964

Background: Fabry disease (FD) is a rare, inherited disease lysosomal storage disorder caused by the lack of an alpha-galactosidase enzyme. This genetic disease can affect both men and women. The understanding of FD is very important as this condition can be effectively treated. For women who may exhibit normal residual enzyme activity, the diagnosis is more challenging. Case presentation: Herein, we reported on a case of IgA nephropathy and renal disease that mimicked FD in a female patient. The presence of zebra bodies in the cytoplasm of glomerular podocytes is widely accepted as a hallmark pathological manifestation of FD. In the present case, renal biopsy analysis revealed the presence of zebra bodies; however, genetic testing indicated that the patient did not have FD. The mechanisms and causes of zebra body formation remained unclear in the present case. However, the patient responded well to treatment with an angiotensin receptor blocker. Conclusions: The reported findings can be useful for the differential diagnosis of FD and renal diseases in the future. Our results also highlight the clinical significance of zebra bodies in renal disease.

diagnosis Fabry disease IgA nephropathy renal biopsy zebra body

SCI

English

Corresponding

Shenzhen Fund for Guangdong Provincial High level Clinical Key Specialties[SZGSP001] ; Shenzhen key Laboratory of Kindey Diseases[ZDSYS201504301616234] ; Guangdong Science and Technology Project, China[A2019416]

General & Internal Medicine

Medicine, General & Internal

WOS:000871577800025

LIPPINCOTT WILLIAMS & WILKINS

CLINICAL MEDICINE

2-s2.0-85140500430

Scopus

1.Key Renal Laboratory of Shenzhen,Shenzhen,China
2.Department of Nephrology,Shenzhen People's Hospital,The Second Clinical Medical College,Jinan University,The First Affiliated Hospital,Southern University of Science and Technology,Shenzhen,China

Sun，Liping,Zi，Xinyi,Wang，Zhen,et al. IgA nephropathy with mimicking Fabry disease: A case report and literature review[J]. MEDICINE,2022,101(42).

Sun，Liping,Zi，Xinyi,Wang，Zhen,&Zhang，Xinzhou.(2022).IgA nephropathy with mimicking Fabry disease: A case report and literature review.MEDICINE,101(42).

Sun，Liping,et al."IgA nephropathy with mimicking Fabry disease: A case report and literature review".MEDICINE 101.42(2022).