Department of Nephrology and Rheumatology, Children's Hospital of Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan, China.
Department of Nephrology, Children's Hospital of Fudan University, National Pediatric Medical Center of China, Shanghai, China.
Mol Genet Genomic Med. 2020 Oct;8(10):e1430. doi: 10.1002/mgg3.1430. Epub 2020 Jul 28.
Psoriasis is a chronic inflammatory dermatosis with complex genetic basis supported by family investigation. Renal involvement in psoriasis is sparsely studied and its pathogenesis is still unclear.
We describe the case of a 7-year-old boy presented new onset of nephropathy two weeks after a flare-up of psoriasis. His mother had a long history of psoriasis without abnormal urinalysis records. The case showed non-nephrotic range proteinuria, microscopic hematuria without any other abnormal results including renal function, complement cascade, and ultrasound. Renal pathological demonstrated the diagnosis of C3 glomerulonephritis (C3GN) showing mesangial proliferative glomerulonephritis with C3 staining only, effacement of podocyte process and intramembranous electron dense deposit by electric microscopy. Parent-child trio WES performed to screening the common variants of psoriasis susceptibility locus and also the rare variants associated with C3GN. We identified a missense single nucleotide polymorphism of CARD14 (*607211, rs34367357, p.Val585Ile) carried by the proband and his mother. Meta-analysis proved the association of rs34367357 and psoriasis (p = 0.006, OR = 1.23). A hemizygouse mutation of CLCN5 (*300008, c.1904A＞G,p.Asn635Ser) was identified for diagnosis of Dent disease (*300009).
The case highlights the genetic study is necessary to facilitate disease differentiation in new onset of nephropathy with psoriasis in children.
银屑病是一种具有复杂遗传基础的慢性炎症性皮肤病，家族调查对此提供了支持。银屑病患者的肾脏受累研究较少，其发病机制尚不清楚。
我们描述了一例 7 岁男孩，在银屑病发作两周后出现新发肾病。他的母亲有长期银屑病病史，但无异常尿检记录。该病例表现为非肾病范围蛋白尿，镜下血尿，其他检查结果均无异常，包括肾功能、补体级联和超声。肾脏病理诊断为 C3 肾小球肾炎（C3GN），表现为系膜增生性肾小球肾炎，仅 C3 染色阳性，足细胞突起消失，电镜下可见膜内电子致密沉积物。对母子三人进行了外显子组测序（WES），以筛选银屑病易感基因座的常见变异和与 C3GN 相关的罕见变异。我们发现了一个错义单核苷酸多态性，即 CARD14 基因（*607211，rs34367357，p.Val585Ile），由先证者及其母亲携带。荟萃分析证实了 rs34367357 与银屑病的相关性（p=0.006，OR=1.23）。CLCN5 基因（*300008，c.1904A＞G，p.Asn635Ser）的半合子突变被鉴定为 Dent 病的诊断（*300009）。
该病例强调了在儿童新发肾病伴银屑病时，进行基因研究对于明确疾病诊断是必要的。
