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논문분류	춘계학술대회 초록집
제목	NUP107 mutations in children with steroid-resistant nephrotic syndrome
저자	Eujin Park* 1, Yo Han Ahn2, Hee Gyung Kang1, 3, Il Soo Ha1, Hae Il Cheong1, 3
출판정보	2016; 2016(1):
키워드	End-stage renal disease, Focal segmental glomerulosclerosis, NUP107 gene mutation, Steroid-resistant nephrotic syndrome
초록	Background: The NUP107 gene is a novel gene associated with autosomal recessive steroid-resistant nephrotic syndrome (SRNS) with focal segmental glomerulosclerosis (FSGS) in children. The frequency of NUP107 mutations in children with SR-FSGS remains unknown. Methods: Nine families with two siblings affected by childhood-onset SRNS or proteinuria were recruited. FSGS was confirmed by a kidney biopsy in at least one affected sibling in all families. In addition, 69 sporadic pediatric cases with biopsy-proven SR-FSGS who were not responded to any treatment were also included. All coding exons with flanking introns of the NUP107 gene were amplified using polymerase chain reaction and directly sequenced. Results: Biallelic NUP107 mutations were detected in four pairs (44.4%) of siblings of the familial cases and three (4.3%) sporadic cases. All affected patients harbored p.Asp831Ala mutation in one allele and a truncating or abnormal splicing mutation in the other allele. The NUP107 mutations-positive patients revealed earlier onset age (39.4±13.1 versus 76.8±50.0 months, P=0.027) and more rapid progression to ESRD (at the ages of 58.9±23.4 versus 123.1±62.7 months, P<0.001) than mutations-negative patients. None of the eight mutations-positive cases, who underwent kidney transplantation, had recurrence of FSGS in the graft kidney, while 35.3% of mutations-negative cases had recurrence of FSGS. Conclusion: An unexpected high incidence of NUP107 mutations was revealed in Korean children with SR-FSGS. Initial genetic screening for children with SR-FSGS should include the NUP107 gene, at least in Korea. Further research is necessary to determine the incidences of NUP107 mutations in other countries.
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