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Concurrent fabry disease and immunoglobulin a nephropathy: a case report
Li-Na Zhou1, Shao-Shao Dong1, Sheng-Ze Zhang1
1Department of Nephrology, Wenzhou People's Hospital, The Third Affiliated Hospital of Shanghai University, Wenzhou, 325000, Zhejiang Province, China.
BMC Nephrology
|November 2, 2023
Summary
Fabry disease (FD) and IgA nephropathy (IgAN) can co-occur. This case highlights concurrent FD, IgAN, and genetic mutations causing dilated cardiomyopathy, emphasizing detailed family history and genetic testing for diagnosis.
Area of Science:
- Genetics
- Nephrology
- Cardiology
Background:
- Fabry disease (FD) is an X-linked disorder caused by alpha-galactosidase A deficiency.
- Immunoglobulin A nephropathy (IgAN) is a common cause of kidney disease.
- Concurrent FD and IgAN is a rare clinical presentation.
Observation:
- A 60-year-old female presented with edema, cardiac abnormalities, and neuropathy.
- Renal biopsy confirmed coexisting FD and IgAN.
- Genetic analysis revealed mutations in TTN and BAG3 genes, associated with dilated cardiomyopathy.
Findings:
- The patient's son carried the FD-causing GLA gene mutation.
- Family history revealed kidney transplantation and sudden cardiac death in siblings.
- Concurrent FD, IgAN, and genetic cardiomyopathy mutations present a unique diagnostic challenge.
Implications:
- Thorough family history and genetic testing are crucial for diagnosing concurrent FD and IgAN.
- Early diagnosis and management are essential for patients with coexisting genetic disorders affecting the heart and kidneys.
- This case underscores the importance of a multidisciplinary approach in managing complex genetic conditions.
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