参考文献/References:
[1].Whelton PK,Flack JM,Jennings GLR,et al. Editors’ commentary on the 2023 ESH management of arterial hypertension guidelines[J]. Hypertension,2023 ,80(9):1795-1799.
[2].Lu YT,Fan P,Zhang D,et al. Overview of monogenic forms of hypertension combined with hypokalemia[J]. Front Pediatr,2021,8:543309.
[3].Raina R,Krishnappa V,Das A,et al. Overview of monogenic or Mendelian forms of hypertension[J]. Front Pediatr,2019,7:263.
[4].Park SJ,Shin JI. Diagnosis and treatment of monogenic hypertension in children[J]. Yonsei Med J,2023,64(2):77-86.
[5].Khandelwal P,Deinum J. Monogenic forms of low-renin hypertension:clinical and molecular insights[J]. Pediatr Nephrol,2022,37(7):1495-1509.
[6].Travers S,Bouvattier C,Fagart J,et al. Interaction between accumulated 21-deoxysteroids and mineralocorticoid signaling in 21-hydroxylase deficiency[J]. Am J Physiol Endocrinol Metab,2020,318(2):E102-E110.
[7].Wang W,Wei CJ,Cui XW,et al. Impacts of NF1 gene mutations and genetic modifiers in neurofibromatosis type 1[J]. 2021,12:704639.
[8].de Blank PMK,Gross AM,Akshintala S,et al. MEK inhibitors for neurofibromatosis type 1 manifestations:clinical evidence and consensus[J]. Neuro Oncol,2022,24(11):1845-1856.
[9].Nu?ez-Gonzalez L,Carrera N,Garcia-Gonzalez MA. Molecular basis,diagnostic challenges and therapeutic approaches of Bartter and Gitelman syndromes:a primer for clinicians[J]. Int J Mol Sci,2021,22(21):11414.
[10].Ostrowska A,Skrzypczyk P. Monogenic hypertension[J]. Pol Merkur Lekarski,2022,50(297):198-201.
[11].Semenova NA,Ryzhkova OR,Strokova TV,et al.Treti? slucha? sindroma pervichnogo al’dosteronizma, sudorog i nevrologicheskikh narusheni? (PASNA), obuslovlennogo variantom mutatsii de novo v gene CACNA1D[The third case report a patient with primary aldosteronism,seizures,and neurologic abnormalities (PASNA) syndrome de novo variant mutations in the CACNA1D gene][J]. Zh Nevrol Psikhiatr Im S S Korsakova,2018,118(12):49-52.
[12].Araujo-Castro M,Martín Rojas-Marcos P,Parra Ramírez P. Familial forms and molecular profile of primary hyperaldosteronism[J]. Hipertens Riesgo Vasc,2022,39(4):167-173.
[13].Funder JW,Carey RM,Mantero F,et al. The Management of Primary Aldosteronism:Case Detection,Diagnosis,and Treatment:An Endocrine Society Clinical Practice Guideline[J]. J Clin Endocrinol Metab,2016,101(5):1889-1916.
[14].Scholl UI,St?lting G,Schewe J,et al. CLCN2 chloride channel mutations in familial hyperaldosteronism type II [J]. Nat Genet,2018,50(3):349-354.
[15].Mulatero P,Tauber P,Zennaro MC,et al. KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism[J]. Hypertension,2012,59(2):235-240.
[16].Monticone S,Hattangady NG,Nishimoto K,et al. Effect of KCNJ5 mutations on gene expression in aldosterone-producing adenomas and adrenocortical cells[J]. J Clin Endocrinol Metab,2012,97(8):E1567-E1572.
[17].Scholl UI,St?lting G,Nelson-Williams C,et al. Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism[J]. Elife ,2015,4:e06315.
[18].Daniil G,Fernandes-Rosa FL,Chemin J,et al. CACNA1H mutations are associated with different forms of primary aldosteronism[J]. EBioMedicine,2016,13:225-236.
[19].Lu Y,Fan P,Hakonarson H,et al. Monogenic hypertension-a type of "curable" hypertension[J]. Sci Bull (Beijing),2023,68(7):657-660.
[20].Tetti M,Monticone S,Burrello J,et al. Liddle syndrome:review of the literature and description of a new case[J]. Int J Mol Sci ,2018,19(3):812.
[21].Kavinga Gunawardane PT,Grossman A. The clinical genetics of phaeochromocytoma and paraganglioma[J]. Arch Endocrinol Metab,2017,61(5):490-500.
[22].Tsirlin A,Oo Y,Sharma R,et al. Pheochromocytoma:a review[J]. Maturitas,2014,77(3):229-38.
[23].N?lting S,Ullrich M,Pietzsch J,et al. Current management of pheochromocytoma/paraganglioma:a guide for the practicing clinician in the era of precision medicine[J]. Cancers (Basel),2019,11(10):1505.
[24].Sbardella E,Cranston T,Isidori AM,et al. Routine genetic screening with a multi-gene panel in patients with pheochromocytomas[J]. Endocrine,2018,59(1):175-182.
[25].Patel D,Phay JE,Yen TWF,et al. Update on pheochromocytoma and paraganglioma from the SSO endocrine and head and neck disease site working group,part 2 of 2:perioperative management and outcomes of pheochromocytoma and paraganglioma[J]. Ann Surg Oncol,2020,27(5):1338-1347.
[26].Lenders JWM,Eisenhofer G. Update on modern management of pheochromocytoma and paraganglioma[J]. Endocrinol Metab (Seoul),2017,32(2):152-161.
[27].Levanovich PE,Diaczok A,Rossi NF. Clinical and molecular perspectives of monogenic hypertension[J]. Curr Hypertens Rev,2020,16(2):91-107.
[28].Bulsari K,Falhammar H.Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency[J]. Endocrine,2017,55(1):19-36.
[29].Aggarwal A,Rodriguez-Buritica D. Monogenic hypertension in children:a review with emphasis on genetics[J]. Adv Chronic Kidney Dis,2017,24(6):372-379.
[30].Toka O,Tank J,Sch?chterle C,et al. Clinical effects of phosphodiesterase 3A mutations in inherited hypertension with brachydactyly[J]. Hypertension,2015,66(4):800-808.
[31].Levey AS,Bosch JP,Lewis JB,et al. A more accurate method to estimate glomerular filtration rate from serum creatinine:a new prediction equation. Modification of Diet in Renal Disease Study Group[J]. Ann Intern Med ,1999,130(6):461-470.
[32].Rule AD,Larson TS,Bergstralh EJ,et al. Using serum creatinine to estimate glomerular filtration rate:accuracy in good health and in chronic kidney disease[J]. Ann Intern Med,2004,141(12):929-937.
[33].Levey AS,Coresh J,Greene T,et al. Using standardized serum creatinine values in the modification of diet in renal disease study equation for estimating glomerular filtration rate [J]. Ann Intern Med,2006,145(4):247-254.
[34].Rexach J,Lee H,Martinez-Agosto JA,et al. Clinical application of next-generation sequencing to the practice of neurology[J]. Lancet Neurol,2019,18(5):492-503.
[35].Wu S,Schmitz U. Single-cell and long-read sequencing to enhance modelling of splicing and cell-fate determination[J]. Comput Struct Biotechnol J,2023,21:2373-2380.
[36].Shao L,Akkari Y,Cooley LD,et al. Chromosomal microarray analysis,including constitutional and neoplastic disease applications,2021 revision:a technical standard of the American College of Medical Genetics and Genomics (ACMG)[J]. Genet Med,2021,23(10):1818-1829.
[37].Richards S,Aziz N,Bale S,et al. Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med,2015,17(5):405-424.
[38].Morgan ES,Tami Y,Hu K,et al. Antisense inhibition of angiotensinogen with IONIS-AGT-LRx:results of phase 1 and phase 2 studies[J]. JACC Basic Transl Sci,2021,6(6):485-496.
[39].Desai AS, Webb DJ, Taubel J, et al. Zilebesiran, an RNA Interference Therapeutic Agent for Hypertension[J]. N Engl J Med. 2023,389(3):228-238.
[40].Freeman MW,Halvorsen YD,Marshall W,et al. Phase 2 trial of baxdrostat for treatment-resistant hypertension [J]. N Engl J Med,2023,388(5):395-405.
[41].Ranasinghe P,Addison ML,Webb DJ. Small interfering RNA therapeutics in hypertension:a viewpoint on vasopressor and vasopressor-sparing strategies for counteracting blood pressure lowering by angiotensinogen-targeting small interfering RNA[J]. J Am Heart Assoc,2022,11(20): e027694.
[42].Sun H,Hodgkinson CP,Pratt RE,et al. CRISPR/Cas9 mediated deletion of the angiotensinogen gene reduces hypertension:a potential for cure?[J]. Hypertension,2021,77(6):1990-2000.