Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2018
Alport's syndrome with focal segmental glomerulosclerosis lesion - Pattern to recognize.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Alsahli Afnan A, Alshahwan Sara I, Alotaibi Amal O, Alsaad Khaled O, Aloudah Nourah, Farooqui Mahfooz, Al Sayyari Abdullah A
Аннотация
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.