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

Abstract

Background: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) cause substantial morbidity and mortality. In Japan, there is a lack of knowledge regarding the characteristics of CNS and INS. This study aimed to clarify the characteristics of CNS and INS in Japan. Methods: This cross-sectional nationwide survey obtained data from 44 institutions in Japan managing 92 patients with CNS or INS, by means of two survey questionnaires sent by postal mail. Patients aged < 16 years by 1 April 2015, with a diagnosis of CNS or INS, were included in this study. The primary outcome was end-stage kidney disease. Results: A total of 83 patients with CNS or INS were analyzed. The most frequent disease type was non-Finnish (60.2%); 33 patients (39.8%) had Finnish type. Among those with non-Finnish-type disease, 26 had no syndrome and 24 had a syndrome, of which the most frequent was Denys-Drash syndrome (70.8%). Patients with non-Finnish-type disease with syndrome showed the earliest progression to end-stage kidney disease compared with the other two groups, whereas patients with non-Finnish-type disease without syndrome progressed more slowly compared with the other two groups. In the Finnish-type group, the disease was diagnosed the earliest; a large placenta was reported more frequently; genetic testing was more frequently performed (93.8%); mental retardation was the most frequent extra-renal symptom (21.2%); and thrombosis and infection were more frequent compared with the other groups. Patients with non-Finnish-type disease with syndrome had a higher frequency of positive extra-renal symptoms (79.2%), the most common being urogenital symptoms (54.2%). Treatment with steroids and immunosuppressants was more frequent among patients with non-Finnish-type disease without syndrome. Two patients with non-Finnish-type disease without syndrome achieved complete remission. In all groups, unilateral nephrectomy was performed more often than bilateral nephrectomy and peritoneal dialysis was the most common renal replacement therapy. Conclusions: The present epidemiological survey sheds light on the characteristics of children with CNS and INS in Japan. A high proportion of patients underwent genetic examination, and patient management was in accord with current treatment recommendations and practices.

Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study

“…Up to 30.0% (9/30) of the patients did not receive appropriate treatment after genetic diagnosis because their parents declined treatment due to the high financial burden involved or concerns about poor prognosis. A cross-sectional nationwide survey of CNS and infantile NS in Japan reported that up to 78.8% (26/33) of patients underwent peritoneal dialysis and up to 51.5% (17/33) underwent subsequent renal transplantation ( 25 ). On the one hand, due to the very low frequency of renal disease resulting from NPHS1 variants, individuals and general clinicians are unfamiliar with the disorder as well as its prognosis.…”

“…The comparison of the phenotype and genotype in CNS patients with NPHS1 variants in this study with the other four cohorts reported in the literature(23)(24)(25)(26) is shown in…”

Comprehensive coagulation and fibrinolytic potential in the acute phase of pediatric patients with idiopathic nephrotic syndrome evaluated by whole blood-based rotational thromboelastometry

“…Nephrotic syndrome (NS) is the most common glomerular disease in children, characterized by massive proteinuria, serum hypoalbuminemia, and edema. Venous thromboembolism (VTE) and serious complications including cerebral venous sinus thrombosis and pulmonary thromboembolism have been reported in approximately 3% of pediatric NS [ 1 – 12 ]. The mechanism(s) that cause VTE in NS remains to be elucidated, however, and the establishment of prophylactic antithrombotic therapy could be highly beneficial.…”