Coexistence of Fabry disease with IgM nephropathy: A case report.
Medicine (Baltimore)
; 98(41): e17566, 2019 Oct.
Article
em En
| MEDLINE
| ID: mdl-31593141
RATIONALE: Coexistence of Fabry disease and IgM nephropathy is rare. The varying severity and unapparent clinical manifestation of Fabry disease makes it difficult to recognize when coexisting with another more prevalent cause of nephropathy requiring electron microscopy and genetic testing to confirm their coexistence. PATIENT CONCERNS: A 54-year-old female presented with proteinuria without any clinical signs or family history of Fabry disease. DIAGNOSES: Immunostaining of the renal biopsy identified mesangial IgM deposition diagnosing it as IgM nephropathy. The light microscopy indicated prominent vacuolization of podocytes. Further examination of toluidine blue stained semi-thin sections and electron microscopy revealed blue bodies and myelin bodies in the cytoplasm of podocytes, respectively. Mutation analysis detected missense mutation establishing the diagnosis of coexisting Fabry disease. INTERVENTIONS: The patient was treated with angiotensin-converting enzyme inhibitors. Enzyme replacement therapy was not administered due to financial constraints. OUTCOMES: After 2 months of treatment the patient demonstrated urine protein to creatinine ratio of 0.21âg/g. LESSONS: Identifying coexistence of Fabry disease with other nephropathy requires meticulous pathologic investigations including electron microscopy especially when Fabry disease presents with atypical phenotype.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Imunoglobulina M
/
Doença de Fabry
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Podócitos
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Glomerulonefrite
Tipo de estudo:
Diagnostic_studies
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Etiology_studies
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Prognostic_studies
Limite:
Female
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Humans
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Middle aged
Idioma:
En
Revista:
Medicine (Baltimore)
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
China
País de publicação:
Estados Unidos