Richards Jesse, Dorand Madisen Fae, Paszkowiak Maria, Ahmed Sana, McCorkle Courtney, Kathuria Pranay
Department of Internal Medicine, University of Oklahoma School of Community Medicine, 4502 E. 41st Street, Tulsa, OK, 74135, USA.
College of Medicine, University of Oklahoma School of Community Medicine, 4502 E. 41st Street, Tulsa, OK, 74135, USA.
Obes Pillars. 2024 Dec 5;13:100155. doi: 10.1016/j.obpill.2024.100155. eCollection 2025 Mar.
Kinase D-interacting substrate of 220 kDa ("KIDINS220") is an integral plasma membrane protein essential to signaling throughout the body; abnormalities are linked to a variety of disorders, including obesity, but have never been directly linked to chronic- or end-stage renal disease.
Retrospective chart review identified patients with severe obesity who presented for pre-kidney transplant weight management. 20 individuals met criteria for testing for genetic causes of obesity. A χ test of independence was utilized to compare genetic mutation rates in this cohort to all individuals tested nationally.
This case series presents a cohort of patients with severe obesity and end-stage renal disease who were subsequently found to have a significantly higher rate of KIDINS220 mutations (20 %, χ = 27.8, < 0.0001) compared to the national positivity rate of all individuals tested for genetic causes of obesity.
Mutations within KIDINS220 may play a modulatory role in the progression of chronic kidney disease in patients with obesity, as evidenced by this small retrospective study. The relationship between KIDINS200, kidney disease, and obesity is complex and requires further study, but may represent a potential therapeutic target in the future.
220 kDa的激酶D相互作用底物（“KIDINS220”）是一种完整的质膜蛋白，对全身信号传导至关重要；异常与多种疾病相关，包括肥胖症，但从未直接与慢性或终末期肾病相关联。
通过回顾性病历审查确定了前来进行肾脏移植前体重管理的重度肥胖患者。20名个体符合肥胖症遗传病因检测标准。采用独立性χ检验将该队列中的基因突变率与全国所有接受检测的个体进行比较。
本病例系列呈现了一组重度肥胖和终末期肾病患者，随后发现他们的KIDINS220突变率（20%，χ = 27.8，P < 0.0001）显著高于因肥胖症遗传病因接受检测的所有个体的全国阳性率。
这项小型回顾性研究表明，KIDINS220内的突变可能在肥胖症患者慢性肾病进展中起调节作用。KIDINS200、肾病和肥胖症之间的关系复杂，需要进一步研究，但未来可能代表一个潜在的治疗靶点。
