Presence of CAKUT: A predictor of difficult-to-control nephrotic syndrome

SummaryNephrotic syndrome and congenital anomalies of the kidney and urinary tract are independent causes of renal dysfunction in children. The simultaneous occurrence of these infrequent conditions is rarely reported. Whether the occurrence of one influences the outcome of the other is also not known. Defects of specific genes have been hypothesized for the occurrence of a few of these anomalies. It is possible that yet-to-be-identified genetic defects are contributing to both of these conditions in specific individuals. We report a series of 10 patients with congenital anomalies of the kidney and urinary tract and nephrotic syndrome that had a difficult course.

腎病綜合症、泌尿道先天性畸型(CAKUT)皆是兒童腎臟功能障礙的獨立成因，然而文獻鮮有對兩者的合併發生作出記載，至今醫學界亦未明瞭兩者間的相互關係；仍然有待確認的，是基因缺損在這兩種病症中的可能角色。以下我們所報告的10宗的系列案例，均同時呈現CAKUT與腎病綜合症，且在臨床上屬於難治性的個案。