摘要目的:总结14例临床及基因诊断的进行性假性类风湿性发育不良(PPRD)患儿临床特点，分析PPRD关节病变特征，为临床诊疗提供参考。方法:回顾性分析2017年12月至2023年9月于首都儿科研究所附属儿童医院及合作单位就诊的14例PPRD患儿资料，总结其临床及基因学检测资料。将住院和随访资料进行病例观察性回顾分析，采用Kendall相关性分析法进行相关因素分析。结果:14例患儿中，男6例，女8例，均为中国汉族儿童；平均起病年龄6.12岁(2～11岁)，平均确诊年龄10.61岁(5～17岁)，确诊时平均病程4.46年(0.5～6.0年)。关节受累个数为4～14个，平均9.20个，以跛行为首发症状者12例。14例患儿均有髋关节活动受限表现，无明显髋关节疼痛。髋关节影像学提示：间隙狭窄11例，股骨颈变短2例，股骨头外移4例，关节面硬化、囊变、骨质破坏8例。四肢关节以双手近端指间关节及掌指关节膨大为主要表现，其余关节按易受累顺序为：膝(11例)、肘(8例)、腕(7例)及踝(5例)关节，肩关节受累较少见(1例)。脊柱主要表现为曲度改变，活动受限8例，以胸、腰椎受累为主(13例)，颈部受累少见(1例)。确诊时病程与关节受累数及关节活动受限数目呈正相关( r＝0.584、0.671， P＝0.007、0.002)。本组患儿8例误诊为幼年特发性关节炎，其中误诊最长时间达6年。14例患儿均存在 CCN6基因突变，其中复合杂合突变10例，纯合突变4例；5例存在c.342T>G、c.667T>G，4例存在c.589＋2(IVS4)T>C，3例存在c.866dup，2例存在c.136C>T、c.624dupA。 结论:PPRD表现为多关节受累，髋关节受累最多见，病变严重，易误诊为幼年特发性关节炎。随着病程延长，受累关节数目逐渐增加。

abstractsObjective:To summarize the clinical features of 14 cases with clinically and genetically diagnosed progressive pseudorheumatoid dysplasia(PPRD) and analyze the characteristics of joint lesions caused by PPRD to provide references for clinical diagnosis and treatment of PPRD.Methods:A retrospective analysis was made on the clinical data and genetic test data of 14 patients admitted to Children′s Hospital, Capital Institute of Pediatrics and cooperative units, from December 2017 to September 2023.An observational retrospective analysis was performed on hospitalization and follow-up data, and correlation factors were analyzed using the Kendall correlation test.Results:The 14 patients, including 6 males and 8 females, were all Chinese Han children.The average age of onset was 6.12 years(2-11 years), the average age of diagnosis was 10.61 years old(5-17 years old), and the average duration of the disease was 4.46 years(0.5-6.0 years) at diagnosis.The number of joint involvements ranged from 4 to 14, with an average of 9.20.There were 12 patients with claudication as the first symptom.All these 14 children had limited hip mobility and no obvious hip pain.The hip joint imaging indicated that space narrowing occurred in 11 cases, femoral neck shortening in 2 cases, femoral head displacement in 4 cases, and articular surface sclerosis, cystic degeneration or bone destruction in 8 cases.The joints of the four limbs were mainly manifested as enlargement of the proximal interphalangeal joints and metacarpophalangeal joints of both hands.The other joints were knees(11 cases), elbows(8 cases), wrists(7 cases) and ankles(5 cases) in the order of easy involvement, and the shoulder joint was less involved(1 case).The spine was mainly characterized by changes in the curvature, and limited movement was found in 8 cases.Thoracic and lumbar spines were mainly involved(13 cases), while cervical involvement was rare(1 case).The duration of the disease at diagnosis was positively correlated with the number of joint involvements and the number of joint mobility limitations( r=0.584, 0.671; P=0.007, 0.002).In this study, 8 children were misdiagnosed as juvenile idiopathic arthritis, and the longest misdiagnosis time was 6 years.All the 14 children had CCN6 gene mutations, including 10 complex heterozygous mutations and 4 homozygous mutations.Five children had c. 342T>G and c. 667T>G, 4 children had c. 589 + 2(IVS4)T>C, 3 children had c. 866dup, and 2 children had c. 136C>T and c. 624dupA. Conclusions:PPRD is characterized by multiple joint involvements, among which hip involvement is the most common.The lesions are serious and easily misdiagnosed as juvenile idiopathic arthritis.The number of affected joints increases gradually with the prolongation of the disease course.