Focal Segmental Glomerulosclerosis in a Patient with Ambiguous Genitalia: A Diagnostic Dilemma.
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.
Nephrologist at the Los Angeles Medical Center in CA. oliver.ross@kp.org.
Oliver E
OE
Ross
Nephrologist at the Los Angeles Medical Center in CA. dean.a.kujubu@kp.org.
Dean A
DA
Kujubu
Nephrologist at the Los Angeles Medical Center in CA. john.j.sim@kp.org.
John J
JJ
Sim
D000328:Adult; D012734:Disorders of Sex Development; D005820:Genetic Testing; D005923:Glomerulosclerosis, Focal Segmental / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000473:pathology* / Q000601:surgery; D016030:Kidney Transplantation; D008297:Male; D012008:Recurrence; D051437:Renal Insufficiency / Q000209:etiology / Q000601:surgery*; D012307:Risk Factors