Presentación clínica y patológica de un paciente portador de síndrome de alport

Translated title of the contribution: Clinical and pathological presentation of an alport syndrome carrier patient

L. López, R. Bacallao, L. González, Y. Chávez, M. Matos, F. Reinol, M. Benchimol

Research output: Contribution to journalArticle

Abstract

Renal histopathological findings and prognosis of chronic kidney disease of an Alport syndrome carrier patient is shown. Alport syndrome is an inherited disorder caused by progressive alterations of collagen synthesis and affects kidney function, hearing and vision. Case: Young man, caucasian, history of hypertension for three years, hospitalized for a hypertensive emergency, also referred foamy urine and edema, suspected glomerulopathy. Laboratory analysis revealed proteinuria of 8.7 g/day, glomerular hematuria and elevated serum creatinine. Renal biopsy was obtained and special techniques, immunofluorescence and ultrastructural studies were performed. A patient with an Alport syndrome with a pattern of focal segmental glomerulosclerosis is presented. The presence of this disease in other family members was found. The histological study allowed us to determined the unfavorable prognosis of chronic kidney disease in this patient.

Translated title of the contributionClinical and pathological presentation of an alport syndrome carrier patient
Original languageSpanish
Pages (from-to)132-139
Number of pages8
JournalActa Microscopica
Volume21
Issue number3
StatePublished - Dec 1 2012
Externally publishedYes

Keywords

  • Alport syndrome
  • Focal and segmental glomerulosclerosis
  • Hereditary nephropathy

ASJC Scopus subject areas

  • Instrumentation
  • Materials Science(all)
  • Microbiology (medical)

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  • Cite this

    López, L., Bacallao, R., González, L., Chávez, Y., Matos, M., Reinol, F., & Benchimol, M. (2012). Presentación clínica y patológica de un paciente portador de síndrome de alport. Acta Microscopica, 21(3), 132-139.