CAJ | 학술논문

目的探讨合并白细胞破碎性血管炎(leukocytoclastic vasculitis,LV)的von HippelLindau综合征2B型(VHL-2B)的临床特点、诊治方法和预后. 方法 2010年7月收治合并白细胞破碎性血管炎的VHL-2B综合征患者1例,男,22岁.患者有高血压,伴头痛、大汗,膝关节肿痛,右下肢膝关节处皮肤约10 cm×2 cm大片破溃,双侧肾上腺直径3.0～9.1 cm多发肿物,双肾多发占位,直径1～5 cm.采用腹腔镜下右肾上腺嗜铬细胞瘤切除术和肾部分切除术,术后予抗血管生成靶向药物治疗(索拉菲尼).临床评估包括影像学和内分泌方面对肿瘤的定位定性检查,脑部和眼底血管检查,VHL基因编码序列(3号外显子)的PCR扩增和测序. 结果患者24h尿去甲肾上腺素295.84μg.奥曲肽显像检查:右肾上腺处高表达病灶.患者合并LV、视网膜裂孔、胰腺肿瘤(内分泌肿瘤和微囊囊腺瘤)、双侧嗜铬细胞瘤、双侧多发肾透明细胞癌、肾囊肿、肝血管瘤和附睾囊肿.诊断为VHL-2B综合征合并皮肤LV.从首次就医确诊嗜铬细胞瘤至发展为多个部位不同性质的肿瘤共6年余.双膝关节皮肤血管炎应用激素等药物无效,口服酚苄明及切除嗜铬细胞瘤后自愈.嗜铬细胞瘤免疫组化染色检查CgA及S-100阳性,Melan-A阴性,Ki-67＜1％. 结论 LV是嗜铬细胞瘤的一种副瘤综合征,由于VHL综合征患者的一生中可能会有新的病灶不断被发现,定期随诊检查非常重要,靶向治疗对病灶的控制疗效确切.
목적 탐토합병백세포파쇄성혈관염(leukocytoclastic vasculitis,LV)적von HippelLindau종합정2B형(VHL-2B)적림상특점、진치방법화예후. 방법 2010년7월수치합병백세포파쇄성혈관염적VHL-2B종합정환자1례,남,22세.환자유고혈압,반두통、대한,슬관절종통,우하지슬관절처피부약10 cm×2 cm대편파궤,쌍측신상선직경3.0～9.1 cm다발종물,쌍신다발점위,직경1～5 cm.채용복강경하우신상선기락세포류절제술화신부분절제술,술후여항혈관생성파향약물치료(색랍비니).림상평고포괄영상학화내분비방면대종류적정위정성검사,뇌부화안저혈관검사,VHL기인편마서렬(3호외현자)적PCR확증화측서. 결과 환자24h뇨거갑신상선소295.84μg.오곡태현상검사:우신상선처고표체병조.환자합병LV、시망막렬공、이선종류(내분비종류화미낭낭선류)、쌍측기락세포류、쌍측다발신투명세포암、신낭종、간혈관류화부고낭종.진단위VHL-2B종합정합병피부LV.종수차취의학진기락세포류지발전위다개부위불동성질적종류공6년여.쌍슬관절피부혈관염응용격소등약물무효,구복분변명급절제기락세포류후자유.기락세포류면역조화염색검사CgA급S-100양성,Melan-A음성,Ki-67＜1％. 결론 LV시기락세포류적일충부류종합정,유우VHL종합정환자적일생중가능회유신적병조불단피발현,정기수진검사비상중요,파향치료대병조적공제료효학절.
Objective To explore clinicopathologic features,diagnosis,treatment and prognosis of von Hippel-Lindau (VHL) type 2B mixed cutaneous leukocytoclastic vasculitis. Methods A 22-Year-Old Man who presented with constitutional symptoms,severe hypertension,and purpuric lesions over the knees.Clinical features,histopathological,IHC and anti-angiogenesis therapy of this case with VHL syndrome-2B mixed cutaneous leukocytoclastic vasculitis was studied based on the available follow-up data.He underwent laparoscopic adrenalectomy and nephron sparing nephrectomy.Clinical evaluation included ophthalmologic examination as well as imaging exams and endocrinal hormone test for tumors markers ; molecular analysis consisted of PCR amplification of the complete VHL gene coding sequence (three exons) and automated nucleotide sequencing. Results 24 h urine Norepinephrine was 295.84 μg and octreotide scan was positive.The VHL-2B patient suffered from leukocytoclastic vasculitis,a retinal hole,pancroatic tumors (endocrine tumor and microcystic cystadenoma),bilateral pheochromocyoma,clear renal cell carcinoma,renal cysts,hepatic hemangioma and epididymal cyst.The patient developed 5 different tumors related to VHL within a period of 6 years.The cutaneous vasculitis persisted despite treatment with high-dose systemic corticosteroids,but rapidly resolved after treatment with phenoxybenzamine and removal of bilateral pheochromocytomas.Tumor cells of resected PHEO samples stained positive for CgA and S-100,but negative for Melan-A.,and with less than 1％ Ki-67. Conclusions Cutaneous leukocytoclastic vasculitis is one of paraneoplastic syndrome of pheochromocytoma.Because new lesions may develop during the patient's lifetime,regular clinical inspection is recommended in order to check up the development of any new lesions.