Chen Wen, Lu Tai Xu, Liu Yan
Department of Acupuncture and Rehabilitation, Dazu District Hospital of Traditional Chinese Medicine, Chongqing, China.
Department of Infection Management, Dazu District Hospital of Traditional Chinese Medicine, Chongqing, China.
Medicine (Baltimore). 2025 Jul 4;104(27):e43291. doi: 10.1097/MD.0000000000043291.
Nail-patella syndrome (NPS), a rare genetic disorder with multisystemic implications that affects the kidneys, joints, bones, and nails, exhibits significant phenotypic heterogeneity, leading to diverse clinical presentations and prompting patients to seek medical attention. This report details the case of a male patient presenting with inflammatory back pain, whose subsequent diagnostic evaluations revealed skeletal anomalies consistent with NPS.
A male patient in his mid-thirties was diagnosed with inflammatory back pain associated with NPS.
The patient presented with hypoplastic nails, malformation of elbow joints, and dysplastic patellae. Computed tomography revealed an iliac angle deformity, which is a cardinal feature of NPS. The diagnostic criteria for NPS were based on clinical manifestations and computed tomography results.
The patient was prescribed celecoxib (0.2 grams orally once daily) for 1 week, along with physical therapy exercises.
During the 3-month follow-up period, gradual improvement in the patient's low back pain was observed.
This case underscores the importance of considering NPS in the differential diagnosis of inflammatory back pain.
指甲-髌骨综合征（NPS）是一种罕见的具有多系统影响的遗传性疾病，会影响肾脏、关节、骨骼和指甲，表现出显著的表型异质性，导致多种临床表现，并促使患者寻求医疗关注。本报告详细介绍了一名出现炎性背痛的男性患者的病例，其后续诊断评估发现了与NPS一致的骨骼异常。
一名三十多岁的男性患者被诊断出患有与NPS相关的炎性背痛。
患者出现指甲发育不全、肘关节畸形和髌骨发育异常。计算机断层扫描显示髂角畸形，这是NPS的主要特征。NPS的诊断标准基于临床表现和计算机断层扫描结果。
给患者开了塞来昔布（每天口服0.2克，持续1周），并进行物理治疗锻炼。
在3个月的随访期内，观察到患者的下背痛逐渐改善。
该病例强调了在炎性背痛的鉴别诊断中考虑NPS的重要性。
