病例报告：携带CDC42 p.Arg68Gln变异的Takenouchi-Kosaki综合征患者的临床表型及重组人生长激素治疗探索。
Case Report: Clinical phenotypes and recombinant human growth hormone therapeutic exploration for a patient with Takenouchi-Kosaki syndrome harboring the CDC42 p.Arg68Gln variant.
文献信息
| PMID | 42746537 |
|---|---|
| 原文 | 在 PubMed 查看原文 ↗ |
| 发表日期 | 2026 |
| 作者 | Xiao-Xiao Lin |
| 作者单位 | Department of Pediatrics, The First Clinical Medical College of Guangzhou University of Chinese Medicine, Guangzhou, Guangdong, China. |
| 期刊 | Frontiers in pediatrics |
| SCI 分区 | Q2 |
| IF | 2.5 |
| 研究类型 | 临床研究 · 临床 |
| 所属专科 | 耳科 |
中文摘要
本研究报道了一名携带CDC42杂合变异（c.203G>A，p.Arg68Gln）的儿科患者，该超罕见变异在全球范围内的临床和遗传学数据有限。她表现出典型的Takenouchi-Kosaki综合征（TKS）表现，包括严重生长迟缓、特征性颅面畸形、持续性巨血小板减少症和进行性感音神经性听力损失。进一步评估发现白细胞减少、低丙种球蛋白血症和体液免疫缺陷。检测到复合杂合GJB2变异，但不太可能主导患者严重的听力损失。针对其身材矮小，给予了超说明书重组人生长激素（rhGH）治疗。在六个月的随访中，实现了良好的追赶生长。进行了文献综述以阐明该变异的特征。本研究补充了CDC42 p.Arg68Gln变异的临床数据，为rhGH干预提供了初步证据，并为TKS患者的临床管理和遗传咨询提供了参考信息。
英文摘要
This study reports a pediatric patient harboring the heterozygous CDC42 variant (c. 203G > A, p. Arg68Gln), an ultra-rare variant with limited clinical and genetic data worldwide. She presented with typical Takenouchi-Kosaki syndrome (TKS) manifestations, including severe growth retardation, characteristic craniofacial dysmorphism, persistent macrothrombocytopenia and progressive sensorineural hearing loss. Additional evaluations identified leukopenia, hypogammaglobulinemia and a humoral immunodeficiency. Compound heterozygous GJB2 variants were detected but unlikely to dominate the patient's profound hearing loss. Off-label recombinant human growth hormone (rhGH) therapy was administered for her short stature. During six months of follow-up, favorable catch-up growth was achieved. Literature review was conducted to clarify features of this variant. This study supplements the clinical data of the CDC42 p. Arg68Gln variant, provides preliminary evidence for rhGH intervention, and offers reference information for the clinical management and genetic counseling of patients with TKS.