Open AccessAlport’s syndrome with focal segmental glomerulosclerosis lesion – Pattern to recognize
Author(s) -
Afnan Alsahli,
Sara Ibrahim Alshahwan,
Amal Alotaibi,
Khaled O. Alsaad,
Nourah Aloudah,
Mahfooz Farooqui,
Abdulla Al Sayyari
Publication year - 2018
Publication title -
saudi journal of kidney diseases and transplantation/našrat amraḍ wa zira'aẗ al-kulaẗ
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.268
H-Index - 30
eISSN - 2320-3838
pISSN - 1319-2442
DOI - 10.4103/1319-2442.225193
Subject(s) - medicine , focal segmental glomerulosclerosis , alport syndrome , pathology , renal biopsy , glomerulosclerosis , glomerular basement membrane , proteinuria , biopsy , nephrotic syndrome , urology , glomerulonephritis , kidney
The association between Alport's syndrome (AS) and focal segmental glomerulosclerosis (FSGS) in the same patient is complex and rarely reported. We report a case of a 42-year-old male presenting with proteinuria, microscopic hematuria, elevated serum creatinine and hypertension with unremarkable physical examination apart from obesity. The renal biopsy showed well-established FSGS pattern of injury with mild interstitial fibrosis and tubular atrophy, while the electron microscopic examination demonstrated glomerular basement membranes (GBM) changes compatible with AS. AS can be complicated by segmental glomerular scarring, which can mimic primary FSGS, while familial FSGS can result from mutations in collagen IV network of the GBM. This overlap can complicate histopathological interpretation of renal biopsy, which should be accompanied by mutational analysis for accurate diagnosis and proper therapeutic intervention.