Late-onset fabry disease presenting with unexplained renal failure, left ventricular hypertrophy, and recurrent syncope: a case report

被引：0

作者：

Qisu Ying ^{[1
]}

Xiu Yang ^{[2
]}

Ning Zhao ^{[1
]}

Ming Wang ^{[2
]}

Yu Wu ^{[1
]}

Xuexue Shi ^{[2
]}

Jie Shen ^{[1
]}

Min Zhao ^{[1
]}

Wenjun Wang ^{[2
]}

Yingying Qian ^{[1
]}

Qi Chen ^{[2
]}

Yong Mao ^{[1
]}

机构：

[1] Hangzhou First People’s Hospital,Department of Nephrology

[2] Hangzhou First People’s Hospital Chengbei Campus,Department of Nephrology

[3] Hangzhou Geriatric Hospital,Department of Pharmacy

[4] Hangzhou First People’s Hospital,Department of Ultrasound

[5] Hangzhou First People’s Hospital,Department of Gastroenterology

[6] Hangzhou First People’s Hospital Chengbei Campus,undefined

[7] Hangzhou Geriatric Hospital,undefined

来源：

Orphanet Journal of Rare Diseases | / 20卷 / 1期

关键词：

Fabry disease; Renal failure; Left ventricular hypertrophy; Recurrent Syncope; Hearing loss;

D O I：

10.1186/s13023-025-03791-4

中图分类号：

学科分类号：

摘要：

Late-onset cardiac manifestations of Fabry disease are frequently associated with high rates of missed diagnoses and misdiagnoses. We present a case of a 71-year-old male with late-onset Fabry disease whose diagnosis was delayed due to the absence of typical symptoms. The patient has a history of nephrotic syndrome and is currently suffering from end-stage renal disease (ESRD), undergoing maintenance hemodialysis. He was previously diagnosed with diffuse left ventricular hypertrophy and heart block. Upon admission, cardiac examination revealed reduced longitudinal strain of the left ventricle. Fabry disease was suspected due to recurrent heart failure, persistent slight elevation in troponin I (TNI) levels, recurrent syncope, and hearing loss. Subsequent measurement of α-galactosidase A activity and genetic testing confirmed the diagnosis. This case highlights the importance of considering Fabry disease in patients with renal failure, recurrent heart failure, persistent slight elevation in TNI levels, and bilateral interventricular septum syndrome.

引用

共 23 条

[21] Fabry disease with acute myocardial infarction, left ventricular thrombosis, and pericardial effusion A case report
Zhou, Shanshan
Wang, Xiaocong
Xu, Hui
Li, Jing
Zhang, Liping
Li, Hang
MEDICINE, 2022, 101 (21) : E29427
[22] Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis
Gjorgjievski, Nikola
Karanfilovski, Vlatko
Arsov, Todor
Vidimliski, Pavlina Dzekova
Andreevska, Galisna Severeova
Selim, Gjulshen
Dejanov, Petar
Jordanova, Vasilena
Marinova, Ivelina
Paskalev, Emil
Nikolov, Igor G.
FRONTIERS IN GENETICS, 2024, 15
[23] Fabry disease due to D313Y variant with renal failure and possible cardiac involvement: a case report
Bei, Evangelia
Antonopoulos, Alexios S.
Tsivgoulis, Georgios
Vlachopoulos, Charalambos
EUROPEAN HEART JOURNAL-CASE REPORTS, 2023, 7 (05)

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