| 1 |
Gitelman综合征诊治专家共识协作组. Gitelman综合征诊治专家共识 [J]. 中华内科杂志, 2017, 56(9): 712-716.
|
| 2 |
Knoers NV. Inherited forms of renal hypomagnesemia: an update [J]. Pediatr Nephrol, 2009, 24(4): 697~705.
|
| 3 |
Melander O, Orho-Melander M, Bengtsson K, et al. Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension [J]. Hypertension, 2000, 36(3): 389-394.
|
| 4 |
Bouchireb K, Boyer O, Mansour-Hendili L, et al. Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome [J]. BMC Pediatr, 2014, 14: 201.
|
| 5 |
Blanchard A, Bockenhauer D, Bolignano D, et al. Gitelman syndrome: consensus and guidance from a kidney disease: improving global outcomes (KDIGO) controversies conference [J]. Kidney Int, 2017, 91(1): 24-33.
|
| 6 |
黄永兰, 谭敏沂, 蒋翔, 等. 疑似甲状腺激素合成障碍性先天性甲状腺功能减低症患儿DUOX2基因热点变异及临床转归 [J]. 中华实用儿科临床杂志, 2019, 34(20): 389-394.
|
| 7 |
Zheng X, Ma SG, Qiu YL, et al. Novel c.554+5C>T Mutation in the DUOXA2 gene combinated with p.R885Q Mutation inthe DUOX2 gene causes congenital hypothyroidism [J]. J Clin Res Pediatr Endocrinol, 2015, 11(2): 113-125.
|
| 8 |
Palmer BF. Regulation of potassium homeostasis [J]. Clin J Am Soc Nephrol, 2015, 10(6): 1050-1060.
|
| 9 |
Filippatos TD, Rizos CV, Tzavella E, et al. Gitelman syndrome: an analysis of the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities [J]. Int Urol Nephrol, 2018, 50(1): 91-96.
|
| 10 |
Reilly RF, Huang CL. The mechanism of hypocalciuria with NaCl cotransporter inhibition [J]. Nat Rev Nephrol, 2011, 7(11): 669-674.
|
| 11 |
Blaine J, Chonchol M, Levi M. Renal control of calcium, phosphate, and magnesium homeostasis [J]. Clin J Am Soc Nephrol, 2015, 10(7):1257-1272.
|
| 12 |
Huang CL, Kuo E. Mechanism of hypokalemia in magnesium deficiency [J]. J Am Soc Nephrol, 2007, 18(10): 2649-2652.
|
| 13 |
Ma J, Ren H, Lin L, et al. Genetic features of chinese patients with Gitelman syndrome: sixteen novel SLC12A3 mutations identified in a new cohort [J]. Am J Nephrol, 2016, 44(2): 113-121.
|
| 14 |
Wang F, Shi C, Cui Y, et al. Mutation profile and treatment of Gitelman syndrome in Chinese patients [J]. Clin Exp Nephrol, 2017, 21(2): 293-299.
|
| 15 |
Blanchard A, Bockenhauer D, Bolignano D, et al. Gitelman syndrome: consensus and guidance from a kidney disease: improving global outcomes (KDIGO) controversies conference [J]. Kidney Int, 2017, 91(1): 24-33.
|
| 16 |
Adalat S, Woolf AS, Johnstone KA, et al. HNF1B mutations associate with hypomagnesemia and renal magnesium wasting [J]. J Am Soc Nephrol, 2009, 20(5): 1123-1131.
|
| 17 |
Nyström HF, Jansson S, Berg G. Incidence rate and clinical features of hyperthyroidism in a long~term iodine sufficient area of Sweden (Gothenburg) 2003~2005 [J]. Clin Endocrinol (Oxf), 2013, 78(5): 768-776.
|
| 18 |
Chandra AK, Goswami H, Sengupta P. Effects of magnesium on cytomorphology and enzyme activities in thyroid of rats [J]. Indian J Exp Biol, 2014, 52(8): 787-792.
|
| 19 |
Fu C, Luo S, Zhang S, et al. Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients [J]. Clin Chim Acta, 2016, 458: 30-34.
|
| 20 |
Peters C, Nicholas AK, Schoenmakers E, et al. DUOX2/DUOXA2 mutations frequently cause congenital hypothyroidism that evades detection on newborn screening in the United Kingdom [J]. Thyroid, 2019, 29(6): 790-801.
|
| 21 |
Muzza M, Fugazzola L. Disorders of H2O2 generation [J]. Best Pract Res Clin Endocrinol Metab, 2017, 31(2): 225-240.
|
| 22 |
Ito H, Ishii K, Kihara H, et al. Effect of ARB/Diuretics on diastolic function in patients with hypertension (EDEN) trial investigators. Adding thiazide to a renin-angiotensin blocker improves left ventricular relaxation and improves heart failure in patients with hypertension [J]. Hypertens Res, 2012, 35(1): 93-99.
|
| 23 |
Ghaemi-Oskouie F, Shi Y. The role of uric acid as an endogenous danger signal in immunity and inflammation [J]. Curr Rheumatol Rep, 2011, 13(2):160-166.
|
| 24 |
Troster SM, Raizman JE, Rubin L. An unusual case of gout in a young woman with Gitelman syndrome [J]. J Rheumatol, 2016, 43(11): 2085-2087.
|