Mathew Georgie, Govindarajan Srinivasavaradan, Shiri Swathi Kiran, Rv Deepthi, Rao Gurijala Phaneendra, Agarwal Indira
Department of Paediatric Nephrology, Christian Medical College, Vellore, India.
Department of Radiodiagnosis, Christian Medical College, Vellore, India.
Pediatr Nephrol. 2025 Jul;40(7):2197-2199. doi: 10.1007/s00467-025-06691-8. Epub 2025 Jan 27.
Renovascular hypertension is the second leading cause of hypertension. Twenty-seven genes have been attributed to monogenic renovascular hypertension at present. We present a 15-year-old boy with facial dysmorphism, thick skin and renovascular hypertension with a novel gain-of-function variant in SMAD4 gene suggesting Myhre syndrome. Hypertension was controlled with three anti-hypertensive agents and vascular intervention is planned. It is characterized by a multisystem connective tissue disorder associated with progressive fibrosis of skin, cardiovascular, musculoskeletal, gastrointestinal and respiratory systems. This case highlights the need for recognizing syndromic features in children with renovascular hypertension.
肾血管性高血压是高血压的第二大常见病因。目前已有27个基因被认为与单基因肾血管性高血压有关。我们报告了一名15岁男孩，他面部畸形、皮肤增厚且患有肾血管性高血压，其SMAD4基因存在一种新的功能获得性变异，提示可能患有Myhre综合征。使用三种抗高血压药物控制了高血压，并计划进行血管干预。该病的特征是一种多系统结缔组织疾病，与皮肤、心血管、肌肉骨骼、胃肠道和呼吸系统的进行性纤维化有关。该病例强调了识别肾血管性高血压儿童综合征特征的必要性。
