摘要回顾性分析2023年11月于南京大学医学院附属金陵医院确诊的1例先天性肾脏和泌尿道发育异常(CAKUT)合并鱼鳞病患儿的临床资料。患儿，男，12岁，表现为左肾缺如、右肾发育不良、肾功能不全、蛋白尿和鱼鳞病。全外显子测序发现在X染色体p22.3处有一个约1.80 Mb的微缺失，包括 ANOS1和 STS基因。此外，9号染色体上检测到 EHMT1基因c.3664(exon26)C>A的杂合子错义突变。其父表型正常，未检测出上述变异，母亲有尿蛋白，检测到与患儿一致的X染色体微缺失。

abstractsThe clinical data of a case of congenital anomalies of the kidney and urinary tract(CAKUT) complicated with ichthyosis diagnosed at Department of Pediatrics, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University in November 2023 were retrospectively analyzed.The patient, male, 12 years old, exhibited left renal agenesis, right renal dysplasia, renal insufficiency, proteinuria, and ichthyosis.Whole-exome sequencing identified a microdeletion of approximately 1.80 Mb at p22.31 of the X-chromosome, encompassing the ANOS1 and STS genes.Additionally, a heterozygous missense mutation in the EHMT1 gene (c.3664C>A, exon26) on chromosome 9 was detected.The father is clinically normal and did not carry either variant.The mother has proteinuria and was found to carry the same X-chromosome microdeletion as the proband.