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Author Spotlight: Developing a Bedside Protocol for Kidney and Genitourinary Ultrasonography
Published on: June 21, 2024
Focal Segmental Glomerulosclerosis in a Patient with Ambiguous Genitalia: A Diagnostic Dilemma
Oliver E Ross1, Dean A Kujubu2, John J Sim3
1Nephrologist at the Los Angeles Medical Center in CA. oliver.ross@kp.org.
Introduction:
The renal condition referred to as focal segmental glomerulosclerosis (FSGS) presents a diagnostic dilemma for the clinician. It encompasses and displays a nonspecific histologic appearance on a kidney biopsy specimen, rather than a unique disease entity. This characteristic of FSGS often makes treatment decisions and prognostication difficult. A 34-year-old man, who was born with ambiguous genitalia, had received a diagnosis of FSGS in young adulthood and now had advanced kidney disease. He underwent genetic testing to determine whether a genetic disorder was underlying his kidney disease and to ascertain his risk of FSGS recurrence if he were to receive a kidney transplant. The literature pertaining to genetic causes of FSGS is reviewed. We present here a diagnostic dilemma that clinicians face when confronted by a case of FSGS for which the underlying cause is unclear.
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