Ross Oliver E, Kujubu Dean A, Sim John J
Nephrologist at the Los Angeles Medical Center in CA.
Perm J. 2017;21:16-092. doi: 10.7812/TPP/16-092. Epub 2017 Mar 10.
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.
被称为局灶节段性肾小球硬化（FSGS）的肾脏疾病给临床医生带来了诊断难题。它在肾活检标本上呈现出非特异性的组织学表现，而非一种独特的疾病实体。FSGS的这一特征常常使治疗决策和预后判断变得困难。一名34岁男性，出生时生殖器模糊，在成年早期被诊断为FSGS，目前患有晚期肾病。他接受了基因检测，以确定是否存在导致其肾病的遗传疾病，并确定如果他接受肾移植，FSGS复发的风险。本文回顾了与FSGS遗传病因相关的文献。我们在此呈现临床医生在面对病因不明的FSGS病例时所面临的诊断困境。
