儿童Papillorenal综合征2例临床特征并文献复习

doi:10.3969/j.issn.1004-583X.2025.11.010

摘要/Abstract

摘要：

目的探讨儿童Papillorenal综合征(papillorenal syndrome, PRS)的临床特征及预后。方法回顾性分析宁夏医科大学总医院收治的2例PRS患儿的临床资料及基因检测结果,并检索PubMed、中国知网及万方数据库相关文献进行复习。结果本文2例女性患儿出生后不久即出现生长发育迟缓,于幼儿期出现病因不明的肾功能不全,病情快速进展至终末期肾脏病,伴有持续蛋白尿。泌尿系彩色超声显示肾脏体积缩小及肾囊肿;肾活检病理提示局灶节段性肾小球硬化;眼底检查确诊视发育不良。二代测序检测到 $P A X 2$ 基因突变。结论婴幼儿期出现不明原因肾功能不全伴眼部发育异常的患儿,应积极进行基因检测,有助于PRS的早期确诊、病情监测及治疗干预。

关键词: Papillorenal综合征, 肾功能不全, 视发育不良, 儿童

Abstract:

Objective To explore the clinical features and prognosis of pediatric papillorenal syndrome (PRS). Methods The clinical data and genetic testing results of two children with PRS admitted to the General Hospital of Ningxia Medical University were analyzed retrospectively. Relevant literatures about pediatric PRS were retrieved and reviewed from the PubMed database, China National Knowledge Infrastructure (CNKI), and Wanfang Data Knowledge Service Platform. Results The two girls with PRS presented growth retardation shortly after birth. They developed unexplained renal insufficiency in early childhood, and rapidly progressed to end-stage renal disease, accompanied by persistent proteinuria. Renal color Doppler ultrasound showed renal atrophy and renal cysts, and renal biopsy pathology indicated focal segmental glomerulosclerosis. Fundus examination revealed optic dysplasia. Next-generation sequencing detected a mutation in the $P A X 2$ gene. Conclusion For children with unexplained renal insufficiency and ocular dysplasia in infancy, active improvement of genetic testing is helpful for the diagnosis, monitoring, and treatment of PRS.

Key words: papillorenal syndrome, renal insufficiency, optic dysplasia, child

中图分类号:

R726.9

刘静, 李海鑫, 赵银霞. 儿童Papillorenal综合征2例临床特征并文献复习[J]. 临床荟萃, 2025, 40(11): 1027-1030.

Liu Jing, Li Haixin, Zhao Yinxia. Clinical features of two cases of pediatric papillorenal syndrome and literature review[J]. Clinical Focus, 2025, 40(11): 1027-1030.

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链接本文: https://www.lchc.cn/CN/10.3969/j.issn.1004-583X.2025.11.010

https://www.lchc.cn/CN/Y2025/V40/I11/1027

图/表 1

表1 表现为肾功能不全疾病的分子遗传学和临床特征

Tab.1 Molecular genetics and clinical characteristics of diseases manifested as renal insufficiency

疾病	分子遗传学	临床特征
Bardet-Biedl综合征	$B B S 、 I F T 74 、 S C L T 1 、 S C A P E R 、 N P H P 1$ 基因常染色体隐性遗传	肾功能不全、视网膜变性、多指/跖畸形、肥胖、性腺功能减退症、学习障碍
Senior-Loken综合征	$N P H P 、 S D C C A G 8 、 I Q C B 1 、 C E P 290 、 W D R 19 、 T R A F 3 I P 1$ 基因常染色体隐性遗传	肾功能不全、视网膜色素变性、生长发育迟缓、智力障碍、共济失调和眼球震颤
寡而大肾发育不良	$P A X 2 、 H N F 1 B 、 T G F B 1 基因$	肾脏发育不良,病理组织表现为双侧肾小球数量明显减少,肾小球体积增大为特点
CHARGE综合征	$C H D 7$ 基因常染色显性遗传	肾脏发育不良、眼组织缺损、心血管畸形、鼻闭锁或唇/腭裂、外耳/中耳/内耳缺陷、发育迟缓
Lowe综合征	$O C R L$ 基因 X连锁隐性遗传病	肾小管功能障碍、先天性白内障、肌张力减退、智力低下
Pirerson综合征	$L A M B 2$ 基因常染色体隐性遗传	肾功能不全、先天性肾病综合征、小瞳孔、视网膜脱落、白内障、晶状体形状异常
胱氨酸贮积症	$C T N S$ 基因常染色体隐性遗传病	肾功能不全、甲状腺功能减退、糖耐量异常、原发性性腺功能减退、语言发育延迟、认知功能障碍、肌张力减低、生长发育迟滞
Townes-Brocks综合征	$S A L L 1$ 基因常染色体显性遗传	肾功能不全、肛门、拇指和外耳的畸形、肛门、先天性心脏病
Alport综合征	$C O L A 4$ 、 $C O L A 5$ 基因 X连锁遗传,常染色体显性/隐性遗传	肾功能不全,持续血尿蛋白尿,感音性神经性耳聋、眼部病变

表1 表现为肾功能不全疾病的分子遗传学和临床特征

Tab.1 Molecular genetics and clinical characteristics of diseases manifested as renal insufficiency

疾病	分子遗传学	临床特征
Bardet-Biedl综合征	$B B S 、 I F T 74 、 S C L T 1 、 S C A P E R 、 N P H P 1$ 基因常染色体隐性遗传	肾功能不全、视网膜变性、多指/跖畸形、肥胖、性腺功能减退症、学习障碍
Senior-Loken综合征	$N P H P 、 S D C C A G 8 、 I Q C B 1 、 C E P 290 、 W D R 19 、 T R A F 3 I P 1$ 基因常染色体隐性遗传	肾功能不全、视网膜色素变性、生长发育迟缓、智力障碍、共济失调和眼球震颤
寡而大肾发育不良	$P A X 2 、 H N F 1 B 、 T G F B 1 基因$	肾脏发育不良,病理组织表现为双侧肾小球数量明显减少,肾小球体积增大为特点
CHARGE综合征	$C H D 7$ 基因常染色显性遗传	肾脏发育不良、眼组织缺损、心血管畸形、鼻闭锁或唇/腭裂、外耳/中耳/内耳缺陷、发育迟缓
Lowe综合征	$O C R L$ 基因 X连锁隐性遗传病	肾小管功能障碍、先天性白内障、肌张力减退、智力低下
Pirerson综合征	$L A M B 2$ 基因常染色体隐性遗传	肾功能不全、先天性肾病综合征、小瞳孔、视网膜脱落、白内障、晶状体形状异常
胱氨酸贮积症	$C T N S$ 基因常染色体隐性遗传病	肾功能不全、甲状腺功能减退、糖耐量异常、原发性性腺功能减退、语言发育延迟、认知功能障碍、肌张力减低、生长发育迟滞
Townes-Brocks综合征	$S A L L 1$ 基因常染色体显性遗传	肾功能不全、肛门、拇指和外耳的畸形、肛门、先天性心脏病
Alport综合征	$C O L A 4$ 、 $C O L A 5$ 基因 X连锁遗传,常染色体显性/隐性遗传	肾功能不全,持续血尿蛋白尿,感音性神经性耳聋、眼部病变

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