Von Hippel-Lindau綜合征腎臟病變10例診治分析

董毅 琚官群△ 吳震杰 劉濤 陳杰 何屹 劉冰 王林輝

1海軍軍醫(yī)大學(xué)附屬上海長(zhǎng)征醫(yī)院泌尿外科 200003 上海 2浙江省嘉興市第一醫(yī)院泌尿外科 △ 共同第一作者

[摘要]目的：探討Von Hippel-Lindau綜合征(VHL綜合征)腎臟病變的臨床、影像學(xué)、病理特點(diǎn)及處理方法，提高對(duì)VHL綜合征腎臟病變的認(rèn)識(shí)與處理水平。方法：回顧性分析上海長(zhǎng)征醫(yī)院2014年1月～2017年12月診治的10例VHL綜合征患者腎臟病變的臨床特點(diǎn)及治療方式，復(fù)習(xí)文獻(xiàn)并討論VHL綜合征腎臟病變的評(píng)估與處理。結(jié)果：8例患多發(fā)腎透明細(xì)胞癌，6例患多發(fā)腎囊腫，8例有視網(wǎng)膜多發(fā)血管瘤和(或)中樞神經(jīng)系統(tǒng)血管瘤，2例有中樞神經(jīng)系統(tǒng)血管母細(xì)胞瘤家病史，據(jù)此均符合該疾病臨床診斷標(biāo)準(zhǔn)。其中2例行腹腔鏡根治性腎切除術(shù)，2例行腎部分切除術(shù)，1例因合并胰腺多發(fā)囊腫導(dǎo)致門脈高壓而行“脾切除+腎腫瘤活檢術(shù)”，1例患者因腫瘤較小而予密切隨訪。結(jié)論：VHL綜合征腎臟病變表現(xiàn)為腎透明細(xì)胞癌與腎囊腫，可采取積極監(jiān)測(cè)、手術(shù)治療與靶向治療，目前缺乏處理指南，可在多學(xué)科綜合治療協(xié)作組的模式下進(jìn)行個(gè)體化治療，根據(jù)患者全身情況，共同制定治療計(jì)劃。

[關(guān)鍵詞] Von Hippel-Lindau綜合征；腎臟病變；腎癌；腎囊腫

[中圖分類號(hào)] R737.11 [文獻(xiàn)標(biāo)識(shí)碼] A

[DOI] 10.19558/j.cnki.10-1020/r.2018.03.014

Corresponding author: Wang Linhui, wanglinhui@smmu.edu.com

AbstractObjective: To investigate the clinical features, diagnosis and management of renal lesions in patients with von Hippel-Lindau (VHL) syndrome and improve the current understanding on renal lesions.Methods: The clinical data of ten VHL syndrome patients with renal lesions were analyzed retrospectively, including clinical features, laboratory findings, imaging, pathological features, operation method and follow-up.Results: Eight patients with multiple clear cell renal cell carcinoma, six patients had renal cystic lesions, eight patient had retinal multiple angioma or angioma in central neural system (CNS), and two had family history of hemangioblastoma in CNS. All the ten patients had stable disease status, and followed up by outpatient visits.Conclusions: VHL syndrome can manifest as renal cell carcinoma and renal cystic lesions. Treatment contain active surveillance, surgical intervention and medical treatment. Nowadays there is no guideline specifically focused on VHL disease renal lesions. The optimal individualized treatment should under Multidisciplinary team (MDT), according to the general condition of patient, in order to improve prognosis．

Keywordsvon Hippel-Lindau syndrome; renal lesion; renal cell carcinoma; renal cyst

基金項(xiàng)目：國(guó)家自然科學(xué)基金重點(diǎn)項(xiàng)目(281730073)

Von Hippel-Lindau綜合征(VHL綜合征)，又稱希佩爾-林道綜合征，是具有癌變傾向的常染色體顯性遺傳病，發(fā)病率約為1/36 000～1/45 500[1]，臨床表現(xiàn)包括中樞神經(jīng)系統(tǒng)血管母細(xì)胞瘤(hemangioblastoma, HB)、視網(wǎng)膜血管瘤、腎細(xì)胞癌(renal cell carcinoma, RCC)、腎囊腫、嗜鉻細(xì)胞瘤(pheochromocytoma, PCC)、胰腺腫瘤或囊腫等疾病[2]。……