Your browser doesn't support javascript.
loading
Coexistence of Fabry disease with IgM nephropathy: A case report.
Wu, Huizhen; Behera, Tapas Ranjan; Gong, Jianguang; Shen, Quanquan.
Afiliação
  • Wu H; Department of Nephrology, Chun'an First People's Hospital, Hangzhou, Zhejiang, China.
  • Behera TR; Renal Division, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
  • Gong J; Department of Nephrology, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, Zhejiang, China.
  • Shen Q; Department of Nephrology, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, Zhejiang, China.
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 0.21 g/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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Imunoglobulina M / Doença de Fabry / Podócitos / Glomerulonefrite Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Female / Humans / Middle aged Idioma: En Revista: Medicine (Baltimore) Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Imunoglobulina M / Doença de Fabry / Podócitos / Glomerulonefrite Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Female / Humans / Middle aged Idioma: En Revista: Medicine (Baltimore) Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos