Lu Jing, Guo Yan-Nan, Dong Li-Qun
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China.
World J Clin Cases. 2021 May 6;9(13):3056-3062. doi: 10.12998/wjcc.v9.i13.3056.
() is a recently discovered gene that is closely related to the maintenance of normal polarity in podocytes; mutations can directly lead to steroid-resistant nephrotic syndrome (SRNS). However, the characteristics of nephrotic syndrome (NS) caused by mutations have not been described.
We report a novel compound heterozygous mutation of the gene in two siblings with SRNS. The two siblings had edema, proteinuria, hypoproteinemia and hyperlipidemia. Both their father and mother had normal phenotypes (no history of NS). Whole exon sequencing (WES) of the family showed a novel compound heterozygous mutation, c.2290 (exon 8) C > T and c.3613 (exon 12) G > A. Glucocorticoid therapy (methylprednisolone pulse therapy or oral prednisone) and immunosuppressive agents (tacrolimus) had no effect. During a 3-year follow-up after genetic diagnosis by WES, proteinuria persisted, but the patient was healthy.
mutations related to SRNS often occur in exons 7, 10, and 12. Clinical manifestations of SRNS caused by mutations are often less severe than in other forms of SRNS.
（）是最近发现的一个与足细胞正常极性维持密切相关的基因；突变可直接导致激素抵抗型肾病综合征（SRNS）。然而，由突变引起的肾病综合征（NS）的特征尚未见描述。
我们报告了两例患SRNS的兄弟姐妹中该基因的一种新的复合杂合突变。这两名兄弟姐妹均有水肿、蛋白尿、低蛋白血症和高脂血症。他们的父亲和母亲表型均正常（无NS病史）。对该家庭进行的全外显子测序（WES）显示一种新的复合杂合突变，即c.2290（第8外显子）C>T和c.3613（第12外显子）G>A。糖皮质激素治疗（甲泼尼龙冲击治疗或口服泼尼松）和免疫抑制剂（他克莫司）均无效。在通过WES进行基因诊断后的3年随访期间，蛋白尿持续存在，但患者健康。
与SRNS相关的突变常发生在第7、10和12外显子。由突变引起的SRNS的临床表现通常不如其他形式的SRNS严重。
