Abstract: FR-PO442
Late Diagnosis of Fabry Disease in a Kidney Transplant Patient
Session Information
- Pediatric Nephrology - I
November 04, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1102 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Gudura, Tariku Tadele, Cleveland Clinic, Cleveland, Ohio, United States
- Stephany, Brian R., Cleveland Clinic, Cleveland, Ohio, United States
- Fatica, Richard A., Cleveland Clinic, Cleveland, Ohio, United States
- Wang, Xiangling, Cleveland Clinic, Cleveland, Ohio, United States
Introduction
Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A). It causes deposition of glycolipids such as globotriaosylceramide (Gb3). Diagnosis can be challenging due to non-specific presentation varying from minor symptoms such as heat intolerance, limb pain and skin lesions to end organ damage such as kidney failure, cardiomyopathy and stroke. Here we present a case of delayed diagnosis of FD for a patient with kidney transplant.
Case Description
A 47-year-old man with hypertension, cardiomegaly, erythrocytosis, ESRD post kidney transplant in 2006 and recurrent stroke sent for evaluation. When he was 28, he presented to hospital with hypertensive crisis, pulmonary edema and proteinuric acute kidney injury (AKI) with creatinine of 21mg/dl necessitating dialysis. Echocardiogram at that time showed severe concentric left ventricular hypertrophy (LVH) and grade 3 diastolic failure. His kidney failure was presumed to be from thrombotic microangiopathy without kidney biopsy. Prior to recent admission for third stroke, his daughter was found to have FD at age of 14. Further evaluation of his family showed FD associated mutation for his mother, two aunts and his non donor brother. Recent work up during evaluation showed normal kidney allograft function. Erythropoietin and JAK2 mutation done for erythrocytosis was non-revealing. Suspected FD was confirmed by low Alpha Galactosidase S 0.001 U/L (0.0074 – 0.457), elevated total Globotriaosylceramide (GL-3) 7.74 ug/mL (1.37 – 4.04) and Lyso – GL-3 88 ng/ml (< 0.30), and genetic testing that showed pathogenic hemizygous variant in GLA, c.640.1G>A which is associated with X linked FD. He was started on recombinant human Alfa galactosidase.
Discussion
Delayed diagnosis of FD is not uncommon due its wide clinical presentation. Our patient presented with severe LVH and proteinuric AKI pre- transplant and recurrent strokes for over 5 years post-transplant. He was diagnosed only after his daughter was found to have disease. Kidney transplant from donor with FD is associated with premature graft loss for which his donor brother was offered testing but declined. While recurrence of disease is not common after kidney transplant, early diagnosis and enzyme replacement therapy will minimize systemic deposition of GL-3/Gb3 and improve patient and donor outcome.