Klaitman Shai Shlomi, Ling Galina, Kristal Eyal, David Odeya, Elamour Siham, Hershkovitz Eli, Ling Eduard
Faculty of Health Sciences, Ben Gurion University Medical Center, Beer Sheva, Israel.
Soroka University Medical Center, Rager Avenue, Beer Sheva, Israel.
Pediatr Res. 2024 Oct 25. doi: 10.1038/s41390-024-03565-x.
Congenital Insensitivity to Pain with Anhidrosis (CIPA) is a rare hereditary neuropathy caused by NTRK1 gene mutations, predisposing patients to recurrent infections and chronic wounds. Long-term studies on microbial and clinical outcomes in CIPA are limited. This study presents analysis of infection patterns, antibiotic resistance, and clinical outcomes in CIPA patients.
A comprehensive ten-year retrospective cohort study was conducted at Soroka University Medical Center, Beer Sheva, Israel, from January 2014 to January 2023. Electronic medical records were reviewed to identify 63 CIPA patients, all were of consanguineous Bedouin families. Data collection included demographic details, clinical presentations, genetic analysis, documentation of infections, wound sites, hospital duration, and surgical interventions.
Staphylococcus aureus, notably methicillin-resistant, dominated, with Gram-negative bacteria common in lower limbs. The study noted reduced extended-spectrum beta-lactamase bacteria and linked demographic factors to infection traits, antibiotic resistance, and surgical needs.
This study provides valuable insights into the clinical and microbial patterns of CIPA, highlighting dynamic shifts in microbial compositions and antibiotic resistance profiles over time. Staphylococcus aureus, and Gram-negative bacteria particularly in lower limb infections, pose significant challenges in patient management. The findings underscore the importance of tailored approaches to address evolving microbial profiles and optimize patient care in CIPA.
Key Message: This is the largest cohort study on CIPA to date, highlighting the dominance of Staphylococcus aureus, including methicillin-resistant strains, and significant Gram-negative bacterial infections in lower limbs. Contribution to Literature: It draws parallels between infection dynamics in CIPA and diabetic foot ulcers, emphasizing similar challenges due to neuropathy and ischemia, enhancing understanding of infection susceptibility and management in neuropathic conditions.
The findings inform clinical practices by detailing infection and resistance patterns, supporting the development of targeted treatment strategies to improve outcomes for CIPA and similar conditions.
先天性无痛觉伴无汗症（CIPA）是一种由NTRK1基因突变引起的罕见遗传性神经病变，使患者易反复感染并出现慢性伤口。关于CIPA患者微生物及临床结局的长期研究有限。本研究对CIPA患者的感染模式、抗生素耐药性及临床结局进行了分析。
2014年1月至2023年1月在以色列贝尔谢巴的索罗卡大学医学中心进行了一项为期十年的全面回顾性队列研究。通过查阅电子病历确定了63例CIPA患者，他们均来自近亲结婚的贝都因家庭。数据收集包括人口统计学细节、临床表现、基因分析、感染记录、伤口部位、住院时间及手术干预情况。
金黄色葡萄球菌（尤其是耐甲氧西林金黄色葡萄球菌）占主导，革兰氏阴性菌在下肢感染中较为常见。该研究指出产超广谱β-内酰胺酶细菌减少，并将人口统计学因素与感染特征、抗生素耐药性及手术需求联系起来。
本研究为CIPA的临床和微生物模式提供了有价值的见解，突出了微生物组成和抗生素耐药性特征随时间的动态变化。金黄色葡萄球菌以及革兰氏阴性菌（尤其是在下肢感染中）给患者管理带来了重大挑战。这些发现强调了采用针对性方法应对不断变化的微生物特征并优化CIPA患者护理的重要性。
关键信息：这是迄今为止关于CIPA的最大规模队列研究，突出了金黄色葡萄球菌（包括耐甲氧西林菌株）的主导地位以及下肢严重的革兰氏阴性菌感染。对文献的贡献：它比较了CIPA和糖尿病足溃疡的感染动态，强调了由于神经病变和局部缺血导致的类似挑战，增进了对神经病变性疾病感染易感性和管理的理解。
这些发现通过详细描述感染和耐药模式为临床实践提供了依据，支持制定针对性治疗策略以改善CIPA及类似病症的治疗效果。
