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Abstract：
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.
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.
摘要：
银屑病是一种慢性炎症性皮肤病，其遗传基础复杂，家系调查支持。银屑病的肾脏受累研究很少，其发病机制尚不清楚。
我们描述了一个7岁男孩在牛皮癣发作两周后出现新的肾病发作的病例。他的母亲有很长的牛皮癣病史，没有异常的尿液分析记录。该病例显示非肾病范围蛋白尿，镜下血尿无任何其他异常结果，包括肾功能，补体级联，和超声波。肾脏病理诊断为C3肾小球肾炎（C3GN），仅C3染色表现为系膜增生性肾小球肾炎，电镜观察足细胞过程和膜内电子致密沉积。亲子三人组进行WES以筛选牛皮癣易感性基因座的常见变体以及与C3GN相关的罕见变体。我们确定了先证者及其母亲携带的CARD14（*607211，rs34367357，p.Val585Ile）的错义单核苷酸多态性。Meta分析证明rs34367357与银屑病有相关性(p=0.006,OR=1.23)。CLCN5的半合子突变(*300008,c.1904A＞G,P.Asn635Ser）被鉴定用于诊断Dent病（*300009）。
该病例强调了遗传学研究对于促进新发肾病伴银屑病儿童的疾病分化是必要的。
我们描述了一个7岁男孩在牛皮癣发作两周后出现新的肾病发作的病例。他的母亲有很长的牛皮癣病史，没有异常的尿液分析记录。该病例显示非肾病范围蛋白尿，镜下血尿无任何其他异常结果，包括肾功能，补体级联，和超声波。肾脏病理诊断为C3肾小球肾炎（C3GN），仅C3染色表现为系膜增生性肾小球肾炎，电镜观察足细胞过程和膜内电子致密沉积。亲子三人组进行WES以筛选牛皮癣易感性基因座的常见变体以及与C3GN相关的罕见变体。我们确定了先证者及其母亲携带的CARD14（*607211，rs34367357，p.Val585Ile）的错义单核苷酸多态性。Meta分析证明rs34367357与银屑病有相关性(p=0.006,OR=1.23)。CLCN5的半合子突变(*300008,c.1904A＞G,P.Asn635Ser）被鉴定用于诊断Dent病（*300009）。
该病例强调了遗传学研究对于促进新发肾病伴银屑病儿童的疾病分化是必要的。
