A case of Gordon syndrome caused by mutation of lysine-deficient protein kinase 1 gene and literature review_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, Sichuan, 610041, P. R. China;

Corresponding author：

LIAO Xiaoyang, Email: 625880796@qq.com

Keywords：

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

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 WNK1 mutation [c.3029G>A (p.Gl1010Glu)]. The patient, a 21-year-old female, was found to have elevated blood pressure during physical examination. After treatment with thiazide diuretics, the patient was diagnosed as Gordon syndrome. This case expanded the mutant spectrum of Gordon syndrome and provided evidence for its different clinical manifestations, aiming to study and discuss with clinicians to improve 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2019223138503856..
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20227154-7, 21..
3.	Zhang Y, Moran AETrends in the prevalence, awareness, treatment, and control of hypertension among young adults in the United States, 1999 to 2014Hypertension2017704736742.
4.	Rimoldi SF, Scherrer U, Messerli FHSecondary arterial hypertension: When, who, and how to screen?Eur Heart J2014351912451254.
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.
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.
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.
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)20168516-22, 6..
9.	Mabillard H, Sayer JAThe Molecular Genetics of Gordon SyndromeGenes (Basel)20191012986.
10.	Tang WW, Ma WX, Sun SY, et al. A case of pseudohypoaldosteronism Type Ⅱ (PHA2) caused by a novel mutation of KLHL 3Sichuan Da Xue Xue Bao Yi Xue Ban2021525890894.
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..
12.	Doan D, Chu C, Yancovich S, et al. Novel KLHL3 variant in an infant with Gordon syndromeClin Pediatr (Phila)2020591110111013.
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2020281110581062..
14.	Park JS, Park E, Hyun HS, et al. Three cases of Gordon syndrome with dominant KLHL3 mutationsJ Pediatr Endocrinol Metab2017303361364.
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2009183226-231+290..
16.	Nakano K, Kubota Y, Mori T, et al. Familial cases of pseudohypoaldosteronism typeⅡharboring a novel mutation in the Cullin 3 geneNephrology (Carlton)20202511818821.
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 WNK4Mol Genet Genomic Med201976e705.
18.	Mitani M, Furuichi M, Narumi S, et al. A patient with pseudohypoaldosteronism typeⅡcomplicated by congenital hypopituitarism carrying a KLHL3 mutationClin Pediatr Endocrinol2016254127134.
19.	Hollander R, Mortier G, van Hoeck KHyperkalemia in young children: Blood pressure checked?Eur J Pediatr20161751220112013.
20.	Mayan H, Vered I, Mouallem M, et al. Pseudohypoaldosteronism typeⅡ: Marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral densityJ Clin Endocrinol Metab200287732483254.
21.	Bruel A, Vargas-Poussou R, Jeunemaitre X, et al. Gordon syndrome: The importance of measuring blood pressure in childrenArch Pediatr2016238827831.
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 typeⅡFEBS Open Bio201883461469.
23.	Zhang C, Wang Z, Xie J, et al. Identification of a novel WNK4 mutation in Chinese patients with pseudohypoaldosteronism typeⅡNephron Physiol20111183p53p61.
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 geneEndocrine2008333230234.
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 geneHypertension2005462295300.
27.	Hoorn EJ, Gritter M, Cuevas CA, et al. Regulation of the renal NaCl cotransporter and its role in potassium homeostasisPhysiol Rev20201001321356.
28.	Glover M, Zuber AM, O'Shaughnessy KMHypertension, dietary salt intake, and the role of the thiazide-sensitive sodium chloride transporter NCCTCardiovasc Ther20112916876.

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2019223138503856..
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20227154-7, 21..
3. Zhang Y, Moran AETrends in the prevalence, awareness, treatment, and control of hypertension among young adults in the United States, 1999 to 2014Hypertension2017704736742.
4. Rimoldi SF, Scherrer U, Messerli FHSecondary arterial hypertension: When, who, and how to screen?Eur Heart J2014351912451254.
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.
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.
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.
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)20168516-22, 6..
9. Mabillard H, Sayer JAThe Molecular Genetics of Gordon SyndromeGenes (Basel)20191012986.
10. Tang WW, Ma WX, Sun SY, et al. A case of pseudohypoaldosteronism Type Ⅱ (PHA2) caused by a novel mutation of KLHL 3Sichuan Da Xue Xue Bao Yi Xue Ban2021525890894.
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..
12. Doan D, Chu C, Yancovich S, et al. Novel KLHL3 variant in an infant with Gordon syndromeClin Pediatr (Phila)2020591110111013.
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2020281110581062..
14. Park JS, Park E, Hyun HS, et al. Three cases of Gordon syndrome with dominant KLHL3 mutationsJ Pediatr Endocrinol Metab2017303361364.
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2009183226-231+290..
16. Nakano K, Kubota Y, Mori T, et al. Familial cases of pseudohypoaldosteronism typeⅡharboring a novel mutation in the Cullin 3 geneNephrology (Carlton)20202511818821.
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 WNK4Mol Genet Genomic Med201976e705.
18. Mitani M, Furuichi M, Narumi S, et al. A patient with pseudohypoaldosteronism typeⅡcomplicated by congenital hypopituitarism carrying a KLHL3 mutationClin Pediatr Endocrinol2016254127134.
19. Hollander R, Mortier G, van Hoeck KHyperkalemia in young children: Blood pressure checked?Eur J Pediatr20161751220112013.
20. Mayan H, Vered I, Mouallem M, et al. Pseudohypoaldosteronism typeⅡ: Marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral densityJ Clin Endocrinol Metab200287732483254.
21. Bruel A, Vargas-Poussou R, Jeunemaitre X, et al. Gordon syndrome: The importance of measuring blood pressure in childrenArch Pediatr2016238827831.
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 typeⅡFEBS Open Bio201883461469.
23. Zhang C, Wang Z, Xie J, et al. Identification of a novel WNK4 mutation in Chinese patients with pseudohypoaldosteronism typeⅡNephron Physiol20111183p53p61.
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 geneEndocrine2008333230234.
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 geneHypertension2005462295300.
27. Hoorn EJ, Gritter M, Cuevas CA, et al. Regulation of the renal NaCl cotransporter and its role in potassium homeostasisPhysiol Rev20201001321356.
28. Glover M, Zuber AM, O'Shaughnessy KMHypertension, dietary salt intake, and the role of the thiazide-sensitive sodium chloride transporter NCCTCardiovasc Ther20112916876.

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