• Dan Xie, Jiangfen Wu, Wenyi Zhang, Tingting Jin, Peng Wu, Banquan An, and Shengwen Huang.
• Medical College, Guizhou University, Guiyang, China.
• Medicine (Baltimore). 2023 Feb 17; 102 (7): e32970e32970.

RationaleCongenital nephrotic syndrome (CNS) is a heterogeneous disorder in which massive proteinuria, hypoproteinemia, and hyperlipidemia and marked edema are the main manifestations before 3 months-of-age. Here, we present a case involving the genetic diagnosis of a child with CNS.Patient ConcernsA 31-day-old male infant with diarrhea for 25 days and generalized edema for more than 10 days. There was no family history of kidney disease. On proband whole exome sequencing, a compound heterozygous mutation of the NPHS1 gene was identified, including a novel in-frame mutation in exon 14 (c.1864_1866dupACC p. T622dup) and a missense mutation in exon 8 (c.928G>A p. D310N).DiagnosesBased on the clinical and genetic findings, this patient was finally diagnosed with CNS.InterventionsThe main treatment options for the patient were 2-fold: anti-infective treatment and symptomatic treatment.OutcomesThe patient died in follow-up 2 months later; the specific reason for death was unclear.LessonsWhole exome sequencing and Sanger sequencing confirmed that the infant had CNS. Our study identified a novel mutation in an infant, thus expanding the gene-mutation spectrum of the NPHS1 gene, thus providing an efficient prenatal screening strategy and early genetic counseling.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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