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克-特综合征的多学科治疗方法:一例病例报告

Multidisciplinary approach to Klippel-Trenaunay syndrome: a case report.

作者信息

Bopparaju Sahana, Jasani Nikita Sanjaykumar, Singh Akanksha, Gupta Hemaakshi, Shivashankar Trisha, Mhaoesh Doha Mahmoud, Sravani Dereddy, Mateen Mohammed Abdul, Karra Nanditha, Saravanan Chiranjeevee R, Orfali Hamza A

机构信息

Osmania Medical College, Hyderabad, India.

Gmers Medical College Sola, Gujarat, India.

出版信息

Ann Med Surg (Lond). 2025 Jul 14;87(9):6072-6077. doi: 10.1097/MS9.0000000000003564. eCollection 2025 Sep.

Abstract

Klippel-Trenaunay syndrome (KTS) is a rare inherited disorder presenting as a triad of capillary malformations (cutaneous hemangiomas), soft tissue hypertrophy, and varicosities. Two out of three signs are enough to make a diagnosis. It is associated with gastrointestinal, hematological, neuro-ophthalmic, dermatological, pulmonary, oro-dental, renal cardiac, and vascular complications. There is no curative treatment for the disease. Complications are currently managed symptomatically and thorough documentation of all signs and symptoms is essential for timely identification and management of potential complications, thereby improving patient outcomes. KTS was diagnosed in a 16-year-old female, with dyspnea and fever associated with hemoptysis and abdominal pain. On physical examination, cutaneous findings and signs of respiratory compromise as well as evidence of vascular disease were observed. After appropriate medical care, the patient was soon discharged from the hospital. Following initial treatment, the patient's symptoms arbitrarily recurred requiring continued medical management and blood product administration to manage complications resulting from KTS. KTS is a chronic disorder with no cure. Patients with KTS are managed symptomatically and require frequent hospitalizations for the same.

摘要

克-特综合征(KTS)是一种罕见的遗传性疾病,表现为毛细血管畸形(皮肤血管瘤)、软组织肥大和静脉曲张三联征。具备三项体征中的两项即可确诊。它与胃肠道、血液学、神经眼科、皮肤病学、肺部、口腔牙科、肾脏、心脏及血管并发症相关。该疾病尚无治愈方法。目前对并发症采取对症治疗,全面记录所有体征和症状对于及时识别和处理潜在并发症至关重要,从而改善患者预后。一名16岁女性被诊断为KTS,伴有呼吸困难、发热,同时出现咯血和腹痛。体格检查发现有皮肤表现、呼吸功能受损体征以及血管疾病证据。经过适当的医疗护理,患者很快出院。初始治疗后,患者症状反复出现,需要持续的医疗管理并输注血液制品来处理KTS引发的并发症。KTS是一种无法治愈的慢性疾病。KTS患者接受对症治疗,且为此需要频繁住院。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f78f/12401403/dabe48d16001/ms9-87-6072-g001.jpg

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