Alport’s syndrome with focal segmental glomerulosclerosis lesion-pattern to recognize

• Published in: Saudi journal of kidney diseases and transplantation Vol. 29; no. 1; pp. 167 - 172
• Main Authors: al-Sahli, Afnan A., al-Sayyari, Abd Allah A., Faruqi, Mahfuz, al-Udah, Nurah, al-Sad, Khalid O., al-Utaybi, Amal O., al-Shahwan, Sarah I.
• Format: Journal Article
• Language: English
• Published: Riyadh, Saudi Arabia Saudi Center for Organ Transplantation 2018; Wolters Kluwer India Pvt. Ltd; Medknow Publications and Media Pvt. Ltd; Medknow Publications & Media Pvt. Ltd; Wolters Kluwer Medknow Publications
• Subjects: Biopsy; Blood; Care and treatment; Case studies; Collagen; Diagnosis; Family medical history; Genes; Health sciences; Hearing loss; Hereditary nephritis; Kidney diseases; Laboratories; Medicine; Microscopy; Mutation; Nephrology; Pathogenesis; Pathology; Sclerosis; Stains & staining; Urine; التشخيص; المتلازمة الكلوية; دراسات الحالة; متلازمة ألبورت; Saudi Arabia; Riyadh Saudi Arabia
• ISSN: 1319-2442; 2320-3838
• DOI: 10.4103/1319-2442.225193

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.