Rationale: Steroid-resistant nephrotic syndrome (SRNS) is a special kidney disease. SRNS is characterized by steroid-resistant, clinical variability, and genetic heterogeneity. Patients with SRNS often may eventually need renal transplantation. Patient concerns: A 10-month-old Chinese male infant presented with oliguria, renal dysfunction, hypertension, and anemia. Diagnoses: Combined with clinical manifestations, laboratory testing and sequencing results, the patient was diagnosed as SRNS. Interventions: Combined intravenous methylprednisolone and cefoperazone sulbactam did not improve the patient's condition. Thus, SRNS associated with hereditary nephrotic syndrome was strongly suspected. Genetic testing for hereditary renal disease of the patient revealed 2 novel heterozygous mutations in the Nucleoporin 93 ( NUP93 ) gene, which were predicted pathogenic and harmful by bioinformatic softwares of SIFT, PolyPhen_2 and REVEL. Outcomes: As general physical health deterioration and renal dysfunction, the patient died of a severe infection. Lessons: The novel NUP93 heterozygous mutations identified in the current study broadened the genetic spectrum of SRNS and further deepened our insight into pathogenic mutations of NUP93 to improve disease diagnosis.

ContributorsThe conception and design of the correspondence, acquisition of data and analysis and interpretation of data: XY. Drafting the article: XY and BZ. Involved in care of the patient: BZ and YL. Revising it critically for important intellectual content: BZ and YL; Final approval of the version to be submitted: all authors; agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved: all authors.Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.Competing interests None declared.Patient and public involvement Patients and/or the public were not involved in the design, or conduct, or reporting, or dissemination plans of this research.