Relationships between the clinical phenotypes and genetic variants associated with the immunological mechanism in childhood idiopathic nephrotic syndrome: protocol for a prospective observational single-centre cohort study.

Introduction Idiopathic nephrotic syndrome (INS) is the most common glomerulopathy that results in childhood chronic kidney disease in China, but the relationships between different clinical phenotypes and immunological genetic variants observed in patients with INS are ambiguous and have not been well studied. A cohort study combined with whole exome sequencing might further identify the effects of immunological genetic variants on clinical phenotypes and treatment outcomes. Methods and analysis We describe a 3 year prospective observational single-centre cohort study to be conducted in the Children's Hospital of Chongqing Medical University in China. This study will recruit and investigate 336 patients with childhood-onset INS presenting with different clinical phenotypes. Whole exome sequencing will be conducted when patients progress to a confirmed clinical phenotype during follow-up. Relevant clinical and epidemiological data, as well as conventional specimens, will be collected at study entry and 1 month, 3 months, 6 months, 1 year, 2 years and 3 years after disease onset. After this cohort is generated, the immunological genetic variants of steroid-sensitive nephrotic syndrome without frequent relapse, steroid-resistant nephrotic syndrome and steroid-dependent/frequent relapse nephrotic syndrome will be evaluated. Ethics and dissemination The study protocol is approved by Ethics Committee of Children's Hospital of Chongqing Medical University (reference number 2018-140). The results will be disseminated through peer-reviewed journals and conference presentations.