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논문분류	춘계학술대회 초록집
제목	GENOTYPE-PHENOTYPE ANALYSES OF PEDIATRIC PATIENTS WITH PAX2 MUTATIONS
저자	JI HYUN KIM, Yo Han Ahn, Hee Gyung Kang, Il Soo Ha, Hae Il Cheong
출판정보	2019; 2019(1):
키워드	PAX2 mutation \| renal coloboma syndrome \| FSGS7
초록	Two typical phenotypes of PAX2 mutations are renal coloboma syndrome (RCS) and focal segmental glomerulosclerosis type 7 (FSGS7). Although most cases with FSGS7 manifest isolated glomerulopathy, some patients have accompanying ocular abnormalities. In this study, geneotype-phenotype analyses were performed in pediatric patients with PAX2 mutations. A total of 14 Korean pediatric patients with PAX2 mutations were recruited. Mutational analyses were done using Sanger or targeted exome sequencing. The ocular manifestations were reviewed by an ophthalmologist using a 5-point scale grading. The patients were subgrouped into RCS (n = 9), FSGS7 (n=4), and isolated renal hypoplasia (n = 1) based on their phenotypes. Seven different PAX2 mutations were detected, including 3 known and 4 novel mutations. The c.76dupG mutation was common in 8, including 6 RCS, 1 FSGS7, and 1 isolated renal hypoplasia patient. 8 of 9 with RCS and 2 of 4 with FSGS7 had truncating mutations. All 8 RCS with truncating mutations had severe ocular abnormalities, while remaining 1 RCS with a missense mutation had mild unilateral ocular involvement. Among 4 with FSGS7, 2 with truncating mutations had ocular involvement (overlapping phenotype of FSGS7 and RCS), while the other 2 with missense mutations manifested isolated glomerulopathy. Renal biopsy was performed in 3 with FSGS7 and 2 with RCS, which revealed nonspecific changes in one and secondary FSGS due to renal hypoplasia in the other. Ten progressed end-stage renal disease, 3 were in chronic kidney disease stage 3, and 1 maintained normal renal function at the last follow-up. Some may manifest overlapping phenotypes of RCS and FSGS7. Most patients with RCS had truncating mutations, while a half with FSGS7 had missense mutations. Patients with truncating mutations were prone to develop ocular abnormalities. Typical extra-renal manifestations provide useful clues for differential diagnosis in patients with steroid-resistant nephrotic syndrome/FSGS or renal hypoplasia.
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