A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan

摘要: Congenital nephrotic syndrome (CNS) and infantile (INS) cause substantial morbidity mortality. In Japan, there is a lack of knowledge regarding the characteristics CNS INS. This study aimed to clarify INS in Japan. cross-sectional nationwide survey obtained data from 44 institutions Japan managing 92 patients with or INS, by means two questionnaires sent postal mail. Patients aged < 16 years 1 April 2015, diagnosis were included this study. The primary outcome was end-stage kidney disease. A total 83 analyzed. most frequent disease type non-Finnish (60.2%); 33 (39.8%) had Finnish type. Among those non-Finnish-type disease, 26 no 24 syndrome, which Denys–Drash (70.8%). showed earliest progression compared other groups, whereas without progressed more slowly groups. Finnish-type group, diagnosed earliest; large placenta reported frequently; genetic testing frequently performed (93.8%); mental retardation extra-renal symptom (21.2%); thrombosis infection higher frequency positive symptoms (79.2%), common being urogenital (54.2%). Treatment steroids immunosuppressants among syndrome. Two achieved complete remission. all unilateral nephrectomy often than bilateral peritoneal dialysis renal replacement therapy. present epidemiological sheds light on children high proportion underwent examination, patient management accord current treatment recommendations practices. Not applicable.