Liddle syndrome complicated with Gordon syndrome: A case report_Chinese Journal of Clinical Thoracic and Cardiovascular Surgery

Authors：

PAN Xiaorong ¹ , FANG Xiang ¹ , LI Dongze ² , YANG Rong ¹ , WU Jia ¹ , ZHANG Yalin ¹ , YAO Yi ¹ , GAO Chenxi ¹ ,  LIAO Xiaoyang ¹

1. International Medical Center/Department of General Practice and National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, 610041, P. R. China;
2. Department of Emergency Medicine, West China Hospital, Sichuan University, Chengdu, 610041, P. R. China;

Corresponding author：

LIAO Xiaoyang, Email: 625880796@qq.com

Keywords：

Liddle syndrome; Gordon syndrome; young adult; hypertension; precision medicine; case report

DOI：

10.7507/1007-4848.202009086

Video：

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Abstract Full text Figures/Tables Video References Cited by

Liddle syndrome and Gordon syndrome are two rare single-gene inherited hypertension diseases. In patients≤40 years, the prevalence of Liddle syndrome is about 1% and Gordon syndrome is uncertain all over the word, for which is often misdiagnosed and mistreated. The therapies of those diseases are targeted at gene mutation sites, as well as combined with modified lifestyle, and can achieve satisfactory diseases control. This paper reports a patient who is diagnosed with Liddle syndrome and Gordon syndrome at the same time. We aimed to consolidate and improve the diagnosis and accurate treatment of those two diseases by sharing, studying and discussing together with clinical doctors.

Citation： PAN Xiaorong, FANG Xiang, LI Dongze, YANG Rong, WU Jia, ZHANG Yalin, YAO Yi, GAO Chenxi, LIAO Xiaoyang. Liddle syndrome complicated with Gordon syndrome: A case report. Chinese Journal of Clinical Thoracic and Cardiovascular Surgery, 2022, 29(9): 1236-1238. doi: 10.7507/1007-4848.202009086 Copy

1.	Fan P, Zhang D, Pan XC, et al. Premature stroke secondary to severe hypertension results from liddle syndrome caused by a novel SCNN1B mutation. Kidney Blood Press Res, 2020, 45(4): 603-611.
2.	Enslow BT, Stockand JD, Berman JM. Liddle's syndrome mechanisms, diagnosis and management. Integr Blood Press Control, 2019, 12: 13-22.
3.	Liddle G, Bledsoe T, Coppage W. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Assoc Am Phys, 1963, 76: 199-213.
4.	Kozina AA, Trofimova TA, Okuneva EG, et al. Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: A case report. BMC Nephrol, 2019, 20(1): 389.
5.	蒋晖. Liddle 综合征研究进展. 心血管病学进展, 2018, 39(2): 263-266.
6.	梁致如, 高凌根, 范利. Liddle 综合征研究进展. 中华老年多器官疾病杂志, 2016, 15(5): 387-391.
7.	Epstein M, Calhoun DA. Aldosterone blockers (mineralocorticoid receptor antagonism) and potassium-sparing diuretics. J Clin Hypertens (Greenwich), 2011, 13(9): 644-648.
8.	Awadalla M, Patwardhan M, Alsamsam A, et al. Management of Liddle syndrome in pregnancy: A case report and literature review. Case Rep Obstet Gynecol, 2017, 2017: 6279460.
9.	Caretto A, Primerano L, Novara F, et al. A therapeutic challenge: Liddle's syndrome managed with amiloride during pregnancy. Case Rep Obstet Gynecol, 2014, 2014: 156250.
10.	Fan P, Lu CX, Yang KQ, et al. Truncated epithelial sodium channel β subunit responsible for Liddle syndrome in a Chinese family. Kidney Blood Press Res, 2019, 44(5): 942-949.
11.	李玲, 刘敏. 病例 213: 57 岁女性高血压伴反复低血钾症. 中华高血压杂志, 2020, 28(2): 187-190.
12.	Warnock DG. Liddle syndrome: An autosomal dominant form of human hypertension. Kidney Int, 1998, 53(1): 18-24.
13.	Yang KQ, Lu CX, Fan P, et al. Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome. Clin Exp Hypertens, 2018, 40(2): 107-111.
14.	Wan HH, Lye MD. Moduretic-induced metabolic acidosis and hyperkalaemia. Postgrad Med J, 1980, 56(655): 348-350.
15.	Blumenberg D. Triamterene. Krankenpfl J, 1990, 28(4): 166-167.
16.	Paver WK, Pauline GJ. Hypertension and hyperpotassaemia without renal disease in a young male. Med J Aust, 1964, 2: 305-306.
17.	Mabillard H, Sayer JA. The molecular genetics of Gordon syndrome. Genes, 2019, 10(12): 2073-4425.
18.	Loffing J. The thiazide-sensitive NaCl cotransporter. Nieren- und Hochdruckkrankheiten, 2016, 45(6): 247-251.
19.	Boyden LM, Choi M, Choate KA, et al. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature, 2012, 482(7383): 98-102.
20.	O'Shaughnessy KM. Gordon syndrome: A continuing story. Pediatr Nephrol, 2015, 30(11): 1903-1908.
21.	Yang Y, Ou Y, Ren Y, et al. Hypertension accompanied by hyperaldosteronism, hyperkalemia, and hyperchloremic acidosis: A case report and literature Review. Case Rep Endocrinol, 2020, 2020: 1-6.
22.	Golbang AP, Murthy M, Hamad A, et al. A new kindred with pseudohypoaldosteronism type Ⅱ and a novel mutation (564D>H) in the acidic motif of the WNK4 gene. Hypertension, 2005, 46(2): 295-300.
23.	Roy S. Hydrochlorothiazide. AMA J Ethics, 2017, 19(9): 947-948.

1. Fan P, Zhang D, Pan XC, et al. Premature stroke secondary to severe hypertension results from liddle syndrome caused by a novel SCNN1B mutation. Kidney Blood Press Res, 2020, 45(4): 603-611.
2. Enslow BT, Stockand JD, Berman JM. Liddle's syndrome mechanisms, diagnosis and management. Integr Blood Press Control, 2019, 12: 13-22.
3. Liddle G, Bledsoe T, Coppage W. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Assoc Am Phys, 1963, 76: 199-213.
4. Kozina AA, Trofimova TA, Okuneva EG, et al. Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: A case report. BMC Nephrol, 2019, 20(1): 389.
5. 蒋晖. Liddle 综合征研究进展. 心血管病学进展, 2018, 39(2): 263-266.
6. 梁致如, 高凌根, 范利. Liddle 综合征研究进展. 中华老年多器官疾病杂志, 2016, 15(5): 387-391.
7. Epstein M, Calhoun DA. Aldosterone blockers (mineralocorticoid receptor antagonism) and potassium-sparing diuretics. J Clin Hypertens (Greenwich), 2011, 13(9): 644-648.
8. Awadalla M, Patwardhan M, Alsamsam A, et al. Management of Liddle syndrome in pregnancy: A case report and literature review. Case Rep Obstet Gynecol, 2017, 2017: 6279460.
9. Caretto A, Primerano L, Novara F, et al. A therapeutic challenge: Liddle's syndrome managed with amiloride during pregnancy. Case Rep Obstet Gynecol, 2014, 2014: 156250.
10. Fan P, Lu CX, Yang KQ, et al. Truncated epithelial sodium channel β subunit responsible for Liddle syndrome in a Chinese family. Kidney Blood Press Res, 2019, 44(5): 942-949.
11. 李玲, 刘敏. 病例 213: 57 岁女性高血压伴反复低血钾症. 中华高血压杂志, 2020, 28(2): 187-190.
12. Warnock DG. Liddle syndrome: An autosomal dominant form of human hypertension. Kidney Int, 1998, 53(1): 18-24.
13. Yang KQ, Lu CX, Fan P, et al. Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome. Clin Exp Hypertens, 2018, 40(2): 107-111.
14. Wan HH, Lye MD. Moduretic-induced metabolic acidosis and hyperkalaemia. Postgrad Med J, 1980, 56(655): 348-350.
15. Blumenberg D. Triamterene. Krankenpfl J, 1990, 28(4): 166-167.
16. Paver WK, Pauline GJ. Hypertension and hyperpotassaemia without renal disease in a young male. Med J Aust, 1964, 2: 305-306.
17. Mabillard H, Sayer JA. The molecular genetics of Gordon syndrome. Genes, 2019, 10(12): 2073-4425.
18. Loffing J. The thiazide-sensitive NaCl cotransporter. Nieren- und Hochdruckkrankheiten, 2016, 45(6): 247-251.
19. Boyden LM, Choi M, Choate KA, et al. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature, 2012, 482(7383): 98-102.
20. O'Shaughnessy KM. Gordon syndrome: A continuing story. Pediatr Nephrol, 2015, 30(11): 1903-1908.
21. Yang Y, Ou Y, Ren Y, et al. Hypertension accompanied by hyperaldosteronism, hyperkalemia, and hyperchloremic acidosis: A case report and literature Review. Case Rep Endocrinol, 2020, 2020: 1-6.
22. Golbang AP, Murthy M, Hamad A, et al. A new kindred with pseudohypoaldosteronism type Ⅱ and a novel mutation (564D>H) in the acidic motif of the WNK4 gene. Hypertension, 2005, 46(2): 295-300.
23. Roy S. Hydrochlorothiazide. AMA J Ethics, 2017, 19(9): 947-948.

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