Abstract
Introduction: Few studies have addressed the genetic spectrum of NPHS1 variants in Chinese children with nephrotic syndrome. In this multicenter study, the clinical manifestations and features of NPHS1 variants in Chinese children with nephrotic syndrome were researched.Method: Genotypical and phenotypical data from 30 children affected by NPHS1 variants were collected from a multicenter registration system in China and analyzed retrospectively.Results: The patients were divided into two groups: congenital nephrotic syndrome (CNS [n = 24]) and non-CNS (early onset nephrotic syndrome [n = 6]). Renal biopsy was performed on four patients in the non-CNS group, revealing minimal change disease in three and focal segmental glomerulosclerosis in one. A total of 61 NPHS1 variants were detected, involving 25 novel variants. The “recurrent variants” included c.928G>A(p.Asp310Asn) in eight patients with CNS, followed by c.616C>A(p.Pro206Thr) in four, and c.2207T>C (p.Val736Ala) in three. Steroid treatment was applied in 29.2% (7/24)of the patients in the CNS group and 50% (3/6) of the patients in the non-CNS group. One patient in each group experienced complete remission but relapsed subsequently. Immunosuppressants were administered to three patients in the non-CNS group, eliciting an effective response. In the CNS group, three patients underwent renal transplantation and six died mainly from infection.Conclusion: Variants of NPHS1 cause CNS and early childhood-onset nephrotic syndrome. NPHS1 variants in Chinese individuals with nephrotic syndrome (NS) were mainly compound heterozygous variants, and c.928G>A(p.Asp310Asn) in exon 8 may act as a recurrent variant in the Chinese population, followed by c.616C>A(p.Pro206Thr) in exon 6. Steroids and immunosuppressants may be effective in selected patients.
Highlights
Few studies have addressed the genetic spectrum of NPHS1 variants in Chinese children with nephrotic syndrome
Data of 30 children with renal disease putatively caused by NPHS1 variants were collected from CCGKDD, which had included the data of 2,297 patients (30/2,297, counting for 1.30%)
The patients were divided into two groups according to clinical phenotype:congenital nephrotic syndrome (NS) (CNS[n = 24]); and non-CNS
Summary
Few studies have addressed the genetic spectrum of NPHS1 variants in Chinese children with nephrotic syndrome. Nephrotic syndrome (NS) is one of the most common glomerular diseases in children It is generally divided into steroid-sensitive NS (SSNS) and steroid-resistant NS (SRNS), depending on the response of the patient to steroid therapy. SRNS caused by mutations in the NPHS1 gene is manifested by NS but lacks its extrarenal manifestations, and virtually all patients are unresponsive to steroid and immunosuppressant therapy [5]. The gene mutation spectrum and the resultant clinical manifestations in children were analyzed aiming to describe the general situation of NPHS1 variants in children with NS in China and raise awareness of this disease among clinical pediatricians
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