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A case of Williams syndrome with suspected coexisting ectopic aldosterone-producing tumor in the liver
SUMMARY: 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...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7576637/ https://www.ncbi.nlm.nih.gov/pubmed/33434178 http://dx.doi.org/10.1530/EDM-20-0057 |
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author | 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 |
author_facet | 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 |
author_sort | Baba, Shuhei |
collection | PubMed |
description | SUMMARY: 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. LEARNING POINTS: 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. |
format | Online Article Text |
id | pubmed-7576637 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Bioscientifica Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-75766372020-10-28 A case of Williams syndrome with suspected coexisting ectopic aldosterone-producing tumor in the liver 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 Endocrinol Diabetes Metab Case Rep Error in Diagnosis/Pitfalls and Caveats SUMMARY: 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. LEARNING POINTS: 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. Bioscientifica Ltd 2020-08-25 /pmc/articles/PMC7576637/ /pubmed/33434178 http://dx.doi.org/10.1530/EDM-20-0057 Text en © 2020 The authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. (http://creativecommons.org/licenses/by-nc-nd/4.0/) . |
spellingShingle | Error in Diagnosis/Pitfalls and Caveats 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 A case of Williams syndrome with suspected coexisting ectopic aldosterone-producing tumor in the liver |
title | A case of Williams syndrome with suspected coexisting ectopic aldosterone-producing tumor in the liver |
title_full | A case of Williams syndrome with suspected coexisting ectopic aldosterone-producing tumor in the liver |
title_fullStr | A case of Williams syndrome with suspected coexisting ectopic aldosterone-producing tumor in the liver |
title_full_unstemmed | A case of Williams syndrome with suspected coexisting ectopic aldosterone-producing tumor in the liver |
title_short | A case of Williams syndrome with suspected coexisting ectopic aldosterone-producing tumor in the liver |
title_sort | case of williams syndrome with suspected coexisting ectopic aldosterone-producing tumor in the liver |
topic | Error in Diagnosis/Pitfalls and Caveats |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7576637/ https://www.ncbi.nlm.nih.gov/pubmed/33434178 http://dx.doi.org/10.1530/EDM-20-0057 |
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