Gordon syndrome caused by mutation of with-no-lysine kinase 1: A case report_Chinese Journal of Clinical Thoracic and Cardiovascular Surgery

Authors：

CHEN Xin , FANG Xiang , JIA Yu ,  LIAO Xiaoyang

General Practice Medical Center, West China Hospital, Sichuan University, Chengdu, 610041, P. R. China;

Corresponding author：

LIAO Xiaoyang, Email: 625880796@qq.com

Keywords：

Gordon syndrome; youth; hypertension; precision medicine; gene mutation; case report

DOI：

10.7507/1007-4848.202302001

Video：

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Gordon syndrome is a rare monogenic hypertensive disease with low incidence and high clinical heterogeneity. As so far, genetic diagnosis of Gordon syndrome is rarely reported. We reported a case of Gordon syndrome caused by a novel with-no-lysine kinase 1 mutation [c.3029G>A (p.Gl1010Glu)]. The patient, a 21-year-old female, was found to have elevated blood pressure during physical examination. The treatment with thiazide diuretics showed significant effect, and the gene analysis made a diagnosis of Gordon syndrome. This case expanded the mutant spectrum of Gordon syndrome, provided evidence for its different clinical manifestations, and improved the understanding of monogenic hypertension.

1.	宋晶京, 刘小宁, 蔡军, 等. 青年高血压患者临床特征分析. 中国全科医学, 2019, 22(31): 3850-3856.Song JJ, Liu XN, CAI J, et al. Analysis of clinical characteristics of young hypertensive patients. China Gen Pract, 2019, 22(31): 3850-3856.
2.	张帆. 叶县人民医院体检人群高血压现患率调查分析及干预策略. 临床医学研究与实践, 2022, 7(15): 4-7, 21.Zhang F. Investigation and analysis of the prevalence of hypertension in the physical examination population of Ye County People's Hospital and intervention strategies. Clin Med Res Pract, 2022, 7(15):4-7, 21.
3.	Zhang Y, Moran AE. Trends in the prevalence, awareness, treatment, and control of hypertension among young adults in the United States, 1999 to 2014. Hypertension, 2017, 70(4): 736-742.
4.	Rimoldi SF, Scherrer U, Messerli FH. Secondary arterial hypertension: When, who, and how to screen? Eur Heart J, 2014, 35(19): 1245-1254.
5.	徐瑞. 难治性高血压的基因诊断进展. 中华诊断学电子杂志, 2020, 8(1): 17.Xu R. Advances in genetic diagnosis of refractory hypertension. Chin Electron J Diagn, 2020, 8(1): 17.
6.	方湘, 潘小蓉, 程毅松, 等. 《中青年高血压管理中国专家共识》解读. 中国循证医学杂志, 2020, 20(7): 753-758.Fang X, Pan XR, Cheng YS, et al. Interpretation of Chinese Expert Consensus on Hypertension Management in Young and middle-aged Adults. Chin J Evid-Based Med, 2020, 20(7): 753-758.
7.	惠汝太, 孔涛, 赵晟, 等. 高血压相关基因研究进展. 中国实用内科杂志, 2019, 39(1): 27-37.Hui RT, Kong T, Zhao S, et al. Research progress of genes related to hypertension. Chin J Pract Intern Med, 2019, 39(1): 27-37.
8.	邹玉宝, 孙筱璐, 王继征, 等. 单基因致病型高血压. 中国医学前沿杂志(电子版), 2016, 8(5): 16-22.Zou YB, Sun XL, Wang JZ, et al. Monogenic hypertension. Chin Med Front J (Electron Ed), 2016, 8(5): 16-22.
9.	Mabillard H, Sayer JA. The molecular genetics of Gordon syndrome. Genes (Basel), 2019, 10(12): 986.
10.	Tang WW, Ma WX, Sun SY, et al. A case of pseudohypoaldosteronism type Ⅱ (PHA2) caused by a novel mutation of KLHL 3. Sichuan Da Xue Xue Bao Yi Xue Ban, 2021, 52(5): 890-894.
11.	廖颖. Gordon综合征临床家系和致病基因的研究. 中国医学科学院北京协和医学院, 2019.Liao Y. Study on clinical family and pathogenic gene of Gordon syndrome. Chinese Academy of Medical Sciences and Peking Union Medical College, 2019.
12.	Doan D, Chu C, Yancovich S, et al. Novel KLHL3 variant in an infant with Gordon syndrome. Clin Pediatr (Phila), 2020, 59(11): 1011-1013.
13.	杨金凤, 廖颖, 周宪梁. 伴赖氨酸缺乏蛋白激酶1基因错义突变的高血压1例的临床特征及家系分析. 中华高血压杂志, 2020, 28(11): 1058-1062.Yang JF, Liao Y, Zhou XL. Clinical characteristics and family analysis of 1 case of hypertension with lysine-deficient protein kinase 1 gene missense mutation. Chin J Hypertens, 2020, 28(11): 1058-1062.
14.	Park JS, Park E, Hyun HS, et al. Three cases of Gordon syndrome with dominant KLHL3 mutations. J Pediatr Endocrinol Metab, 2017, 30(3): 361-364.
15.	张翀, 秦岭, 王朝晖, 等. Gordon综合征患者WNK基因突变研究. 肾脏病与透析肾移植杂志, 2009, 18(3): 226-231, 290.Zhang C, Qin L, WANG ZH, et al. Study on WNK gene mutation in patients with Gordon syndrome. J Nephrol Dialys Kidney Transplant, 2009, 18(3): 226-231, 290.
16.	Nakano K, Kubota Y, Mori T, et al. Familial cases of pseudohypoaldosteronism typeⅡharboring a novel mutation in the Cullin 3 gene. Nephrology (Carlton), 2020, 25(11): 818-821.
17.	Sakoh T, Sekine A, Mori T, et al. A familial case of pseudohypoaldosteronism typeⅡ(PHA2) with a novel mutation (D564N) in the acidic motif in WNK4. Mol Genet Genomic Med, 2019, 7(6): e705.
18.	Mitani M, Furuichi M, Narumi S, et al. A patient with pseudohypoaldosteronism typeⅡcomplicated by congenital hypopituitarism carrying a KLHL3 mutation. Clin Pediatr Endocrinol, 2016, 25(4): 127-134.
19.	Hollander R, Mortier G, van Hoeck K. Hyperkalemia in young children: Blood pressure checked? Eur J Pediatr, 2016, 175(12): 2011-2013.
20.	Mayan H, Vered I, Mouallem M, et al. Pseudohypoaldosteronism typeⅡ: Marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. J Clin Endocrinol Metab, 2002, 87(7): 3248-3254.
21.	Bruel A, Vargas-Poussou R, Jeunemaitre X, et al. Gordon syndrome: The importance of measuring blood pressure in children. Arch Pediatr, 2016, 23(8): 827-831.
22.	Shao L, Cui L, Lu J, et al. A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism typeⅡ. FEBS Open Bio, 2018, 8(3): 461-469.
23.	Zhang C, Wang Z, Xie J, et al. Identification of a novel WNK4 mutation in Chinese patients with pseudohypoaldosteronism typeⅡ. Nephron Physiol, 2011, 118(3): 53-61.
24.	Kamide K, Takiuchi S, Tanaka C, et al. Three novel missense mutations of WNK4, a kinase mutated in inherited hypertension, in Japanese hypertensives: Implication of clinical phenotypes. Am J Hypertens, 2004, 17(5 Pt 1): 446-449.
25.	Gong H, Tang Z, Yang Y, et al. A patient with pseudohypoaldosteronism typeⅡcaused by a novel mutation in WNK4 gene. Endocrine, 2008, 33(3): 230-234.
26.	Golbang AP, Murthy M, Hamad A, et al. A new kindred with pseudohypoaldosteronism typeⅡand a novel mutation (564D>H) in the acidic motif of the WNK4 gene. Hypertension, 2005, 46(2): 295-300.
27.	Hoorn EJ, Gritter M, Cuevas CA, et al. Regulation of the renal NaCl cotransporter and its role in potassium homeostasis. Physiol Rev, 2020, 100(1): 321-356.
28.	Glover M, Zuber AM, O'Shaughnessy KM. Hypertension, dietary salt intake, and the role of the thiazide-sensitive sodium chloride transporter NCCT. Cardiovasc Ther, 2011, 29(1): 68-76.

1. 宋晶京, 刘小宁, 蔡军, 等. 青年高血压患者临床特征分析. 中国全科医学, 2019, 22(31): 3850-3856.Song JJ, Liu XN, CAI J, et al. Analysis of clinical characteristics of young hypertensive patients. China Gen Pract, 2019, 22(31): 3850-3856.
2. 张帆. 叶县人民医院体检人群高血压现患率调查分析及干预策略. 临床医学研究与实践, 2022, 7(15): 4-7, 21.Zhang F. Investigation and analysis of the prevalence of hypertension in the physical examination population of Ye County People's Hospital and intervention strategies. Clin Med Res Pract, 2022, 7(15):4-7, 21.
3. Zhang Y, Moran AE. Trends in the prevalence, awareness, treatment, and control of hypertension among young adults in the United States, 1999 to 2014. Hypertension, 2017, 70(4): 736-742.
4. Rimoldi SF, Scherrer U, Messerli FH. Secondary arterial hypertension: When, who, and how to screen? Eur Heart J, 2014, 35(19): 1245-1254.
5. 徐瑞. 难治性高血压的基因诊断进展. 中华诊断学电子杂志, 2020, 8(1): 17.Xu R. Advances in genetic diagnosis of refractory hypertension. Chin Electron J Diagn, 2020, 8(1): 17.
6. 方湘, 潘小蓉, 程毅松, 等. 《中青年高血压管理中国专家共识》解读. 中国循证医学杂志, 2020, 20(7): 753-758.Fang X, Pan XR, Cheng YS, et al. Interpretation of Chinese Expert Consensus on Hypertension Management in Young and middle-aged Adults. Chin J Evid-Based Med, 2020, 20(7): 753-758.
7. 惠汝太, 孔涛, 赵晟, 等. 高血压相关基因研究进展. 中国实用内科杂志, 2019, 39(1): 27-37.Hui RT, Kong T, Zhao S, et al. Research progress of genes related to hypertension. Chin J Pract Intern Med, 2019, 39(1): 27-37.
8. 邹玉宝, 孙筱璐, 王继征, 等. 单基因致病型高血压. 中国医学前沿杂志(电子版), 2016, 8(5): 16-22.Zou YB, Sun XL, Wang JZ, et al. Monogenic hypertension. Chin Med Front J (Electron Ed), 2016, 8(5): 16-22.
9. Mabillard H, Sayer JA. The molecular genetics of Gordon syndrome. Genes (Basel), 2019, 10(12): 986.
10. Tang WW, Ma WX, Sun SY, et al. A case of pseudohypoaldosteronism type Ⅱ (PHA2) caused by a novel mutation of KLHL 3. Sichuan Da Xue Xue Bao Yi Xue Ban, 2021, 52(5): 890-894.
11. 廖颖. Gordon综合征临床家系和致病基因的研究. 中国医学科学院北京协和医学院, 2019.Liao Y. Study on clinical family and pathogenic gene of Gordon syndrome. Chinese Academy of Medical Sciences and Peking Union Medical College, 2019.
12. Doan D, Chu C, Yancovich S, et al. Novel KLHL3 variant in an infant with Gordon syndrome. Clin Pediatr (Phila), 2020, 59(11): 1011-1013.
13. 杨金凤, 廖颖, 周宪梁. 伴赖氨酸缺乏蛋白激酶1基因错义突变的高血压1例的临床特征及家系分析. 中华高血压杂志, 2020, 28(11): 1058-1062.Yang JF, Liao Y, Zhou XL. Clinical characteristics and family analysis of 1 case of hypertension with lysine-deficient protein kinase 1 gene missense mutation. Chin J Hypertens, 2020, 28(11): 1058-1062.
14. Park JS, Park E, Hyun HS, et al. Three cases of Gordon syndrome with dominant KLHL3 mutations. J Pediatr Endocrinol Metab, 2017, 30(3): 361-364.
15. 张翀, 秦岭, 王朝晖, 等. Gordon综合征患者WNK基因突变研究. 肾脏病与透析肾移植杂志, 2009, 18(3): 226-231, 290.Zhang C, Qin L, WANG ZH, et al. Study on WNK gene mutation in patients with Gordon syndrome. J Nephrol Dialys Kidney Transplant, 2009, 18(3): 226-231, 290.
16. Nakano K, Kubota Y, Mori T, et al. Familial cases of pseudohypoaldosteronism typeⅡharboring a novel mutation in the Cullin 3 gene. Nephrology (Carlton), 2020, 25(11): 818-821.
17. Sakoh T, Sekine A, Mori T, et al. A familial case of pseudohypoaldosteronism typeⅡ(PHA2) with a novel mutation (D564N) in the acidic motif in WNK4. Mol Genet Genomic Med, 2019, 7(6): e705.
18. Mitani M, Furuichi M, Narumi S, et al. A patient with pseudohypoaldosteronism typeⅡcomplicated by congenital hypopituitarism carrying a KLHL3 mutation. Clin Pediatr Endocrinol, 2016, 25(4): 127-134.
19. Hollander R, Mortier G, van Hoeck K. Hyperkalemia in young children: Blood pressure checked? Eur J Pediatr, 2016, 175(12): 2011-2013.
20. Mayan H, Vered I, Mouallem M, et al. Pseudohypoaldosteronism typeⅡ: Marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. J Clin Endocrinol Metab, 2002, 87(7): 3248-3254.
21. Bruel A, Vargas-Poussou R, Jeunemaitre X, et al. Gordon syndrome: The importance of measuring blood pressure in children. Arch Pediatr, 2016, 23(8): 827-831.
22. Shao L, Cui L, Lu J, et al. A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism typeⅡ. FEBS Open Bio, 2018, 8(3): 461-469.
23. Zhang C, Wang Z, Xie J, et al. Identification of a novel WNK4 mutation in Chinese patients with pseudohypoaldosteronism typeⅡ. Nephron Physiol, 2011, 118(3): 53-61.
24. Kamide K, Takiuchi S, Tanaka C, et al. Three novel missense mutations of WNK4, a kinase mutated in inherited hypertension, in Japanese hypertensives: Implication of clinical phenotypes. Am J Hypertens, 2004, 17(5 Pt 1): 446-449.
25. Gong H, Tang Z, Yang Y, et al. A patient with pseudohypoaldosteronism typeⅡcaused by a novel mutation in WNK4 gene. Endocrine, 2008, 33(3): 230-234.
26. Golbang AP, Murthy M, Hamad A, et al. A new kindred with pseudohypoaldosteronism typeⅡand a novel mutation (564D>H) in the acidic motif of the WNK4 gene. Hypertension, 2005, 46(2): 295-300.
27. Hoorn EJ, Gritter M, Cuevas CA, et al. Regulation of the renal NaCl cotransporter and its role in potassium homeostasis. Physiol Rev, 2020, 100(1): 321-356.
28. Glover M, Zuber AM, O'Shaughnessy KM. Hypertension, dietary salt intake, and the role of the thiazide-sensitive sodium chloride transporter NCCT. Cardiovasc Ther, 2011, 29(1): 68-76.

Chinese Journal of Clinical Thoracic and Cardiovascular Surgery

Latest ArticlesGordon syndrome caused by mutation of with-no-lysine kinase 1: A case report

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