Baba Shuhei, Miyoshi Arina, Obara Shinji, Usubuchi Hiroaki, Terae Satoshi, Sunahara Masao, Oshima Takahiro, Misawa Kazuhito, Tsuji Takahiro, Takahashi Bunya, Yamazaki Yuto, Sasano Hironobu, Wada Norio
Departments of Diabetes and Endocrinology, Sapporo City General Hospital, Sapporo, Japan.
Radiology, Sapporo City General Hospital, Sapporo, Japan.
Endocrinol Diabetes Metab Case Rep. 2020 Sep 23;2020. doi: 10.1530/EDM-20-0057.
A 31-year-old man with Williams syndrome (WS) was referred to our hospital because of a 9-year history of hypertension, hypokalemia, and high plasma aldosterone concentration to renin activity ratio. A diagnosis of primary aldosteronism (PA) was clinically confirmed but an abdominal CT scan showed no abnormal findings in his adrenal glands. However, a 13-mm hypervascular tumor in the posterosuperior segment of the right hepatic lobe was detected. Adrenal venous sampling (AVS) subsequently revealed the presence of an extended tributary of the right adrenal vein to the liver surrounding the tumor. Segmental AVS further demonstrated a high plasma aldosterone concentration (PAC) in the right superior tributary vein draining the tumor. Laparoscopic partial hepatectomy was performed. The resected tumor histologically separated from the liver was composed of clear cells, immunohistochemically positive for aldesterone synthase (CYP11B2), and subsequently diagnosed as aldosterone-producing adrenal adenoma. After surgery, his blood pressure, serum potassium level, plasma renin activity and PAC were normalized. To the best of our knowledge, this is the first report of WS associated with PA. WS harbors a high prevalence of hypertension and therefore PA should be considered when managing the patients with WS and hypertension. In this case, the CT findings alone could not differentiate the adrenal rest tumor. Our case, therefore, highlights the usefulness of segmental AVS to distinguish adrenal tumors from hepatic adrenal rest tumors.
Williams syndrome (WS) is a rare genetic disorder, characterized by a constellation of medical and cognitive findings, with a hallmark feature of generalized arteriopathy presenting as stenoses of elastic arteries and hypertension. WS is a disease with a high frequency of hypertension but the renin-aldosterone system in WS cases has not been studied at all. If a patient with WS had hypertension and severe hypokalemia, low PRA and high ARR, the coexistence of primary aldosteronism (PA) should be considered. Adrenal rest tumors are thought to arise from aberrant adrenal tissues and are a rare cause of PA. Hepatic adrenal rest tumor (HART) should be considered in the differential diagnosis when detecting a mass in the right hepatic lobe. Segmental adrenal venous sampling could contribute to distinguish adrenal tumors from HART.
一名31岁患有威廉姆斯综合征（WS）的男性因9年的高血压、低钾血症及高血浆醛固酮浓度与肾素活性比值被转诊至我院。临床确诊为原发性醛固酮增多症（PA），但腹部CT扫描显示其肾上腺无异常发现。然而，在右肝叶后上段发现一个13毫米的高血管性肿瘤。随后肾上腺静脉采样（AVS）显示右肾上腺静脉有一条延伸至肿瘤周围肝脏的分支。分段AVS进一步证实引流肿瘤的右上分支静脉中血浆醛固酮浓度（PAC）较高。遂行腹腔镜肝部分切除术。切除的肿瘤在组织学上与肝脏分离，由透明细胞组成，醛固酮合酶（CYP11B2）免疫组化呈阳性，随后被诊断为分泌醛固酮的肾上腺腺瘤。术后，他的血压、血钾水平、血浆肾素活性和PAC均恢复正常。据我们所知，这是首例与PA相关的WS报告。WS患者高血压患病率高，因此在管理患有WS和高血压的患者时应考虑PA。在本病例中，仅CT表现无法鉴别肾上腺残余肿瘤。因此我们的病例突出了分段AVS在区分肾上腺肿瘤与肝肾上腺残余肿瘤方面的有用性。
威廉姆斯综合征（WS）是一种罕见的遗传性疾病，其特征为一系列医学和认知表现，标志性特征为全身性动脉病变，表现为弹性动脉狭窄和高血压。WS是一种高血压发生率较高的疾病，但WS患者的肾素 - 醛固酮系统尚未得到研究。如果WS患者患有高血压且伴有严重低钾血症、低肾素活性（PRA）和高醛固酮肾素比值（ARR），应考虑原发性醛固酮增多症（PA）的共存。肾上腺残余肿瘤被认为起源于异常肾上腺组织且是PA的罕见病因。在右肝叶发现肿块时，鉴别诊断应考虑肝肾上腺残余肿瘤（HART）。分段肾上腺静脉采样有助于区分肾上腺肿瘤与HART。
