• Bo Zhao, Ji-Yu Chen, Ya-Bin Liao, Yan-Fang Li, Xue-Mei Jiang, Xin Bi, Mi-Feng Yang, Li Li, and Jing-Jing Cui.
• Department of Nephrology and Rheumatology, Kunming Children's Hospital, Kunming.
• Medicine (Baltimore). 2021 Feb 12; 100 (6): e24627e24627.

RationaleSteroid-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 ConcernsA 10-month-old Chinese male infant presented with oliguria, renal dysfunction, hypertension, and anemia.DiagnosesCombined with clinical manifestations, laboratory testing and sequencing results, the patient was diagnosed as SRNS.InterventionsCombined 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.OutcomesAs general physical health deterioration and renal dysfunction, the patient died of a severe infection.LessonsThe 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.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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