RESUMO
Alport syndrome (AS) is a disorder of collagen IV, a component of glomerular basement membrane (GBM). The association of AS and immunocomplex nephropathies is uncommon. This is a case of a 37-year-old woman with family history of X-linked AS, including 4 affected sons. This patient developed full-blown nephrotic syndrome along a 3-month period, a presentation not consistent with AS progression. This scenario suggested an alternative diagnosis. A kidney biopsy was therefore performed, showing membranous nephropathy (MN) in addition to GBM structural alterations compatible with AS. Whole exome sequencing also confirmed the diagnosis of X-linked AS, revealing a heterozygous pathogenic mutation in COL4A5. While a negative serum anti-phospholipase A2 receptor did not rule out a primary form of MN, it was also uncertain whether positive serologic tests for syphilis could represent a secondary factor. It is currently unknown whether this unusual association represents AS susceptibility to immunocomplex-mediated diseases or simply an association of 2 disorders.
Assuntos
Glomerulonefrite Membranosa/complicações , Nefrite Hereditária/complicações , Adulto , Colágeno Tipo IV/genética , Progressão da Doença , Suscetibilidade a Doenças , Exoma , Feminino , Glomerulonefrite Membranosa/genética , Glomerulonefrite Membranosa/patologia , Humanos , Rim/patologia , Mutação , Nefrite Hereditária/genética , Nefrite Hereditária/patologia , Síndrome Nefrótica/etiologia , Síndrome Nefrótica/genética , LinhagemRESUMO
Renal lymphangiomatosis is a rare disease characterized by lymphatic vessel proliferation. We present a case of an adult patient with chronic flank pain, hypertension, and a right kidney mass. The magnetic resonance imaging findings were consistent with unilateral renal lymphangiomatosis. Technetium-99m dimercaptosuccinic acid renal scintilography revealed decreased ipsilateral renal function. From these findings, the patient underwent right nephrectomy, which resulted in complete remission of his hypertension and pain.