1. |
Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians, 1966, 79(79): 221-235.
|
2. |
Takeuchi Y, Mishima E, Shima H, et al. Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome. J Am Soc Nephrol, 2015, 26(2): 271-279.
|
3. |
Bettinelli A, Bianchetti MG, Girardin E, et al. Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr, 1992, 120(1): 38-43.
|
4. |
Fukuyama S, Hiramatsu M, Akagi M, et al. Novel mutations of the chloride Channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria. J Clin Endocrinol Metab, 2004, 89(11): 5847-5850.
|
5. |
Gitelman 综合征诊治专家共识协作组. Gitelman 综合征诊治专家共识. 中华内科杂志, 2017, 56(9): 712-716.
|
6. |
Peters M, Jeck N, Reinalter S, et al. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med, 2002, 112(3): 183-190.
|
7. |
Pachulski RT, Lopez F, Sharaf R. Gitelman’s not-so-benign syndrome. N Engl J Med, 2005, 353(8): 850-851.
|
8. |
Blanchard A, Bockenhauer D, Bolignano D, et al. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int, 2017, 91(1): 24-33.
|
9. |
Calò L, Punzi L, Semplicini A. Hypomagnesemia and chondrocalcinosis in Bartter’s and Gitelman’s syndrome : review of the pathogenetic mechanisms. Am J Nephrol, 2000, 20(5): 347-350.
|
10. |
Gupta R, Hu V, Reynolds T, et al. Sclerochoroidal calcification associated with Gitelman syndrome and calcium pyrophosphate dihydrate deposition. J Clin Pathol, 2005, 58(12): 1334-1335.
|
11. |
Godefroid N, Riveira-Munoz E, Saint-Martin C, et al. A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension. Am J Kidney Dis, 2006, 48(5): e73-e79.
|
12. |
Bettinelli A, Tosetto C, Colussi G, et al. Electrocardiogram with prolonged QT interval in Gitelman disease. Kidney Int, 2002, 62(2): 580-584.
|
13. |
Colussi G, Bettinelli A, Tedeschi S, et al. A thiazide test for the diagnosis of renal tubular hypokalemic disorders. Clin J Am Soc Nephrol, 2007, 2(3): 454-460.
|
14. |
Bouwer ST, Coto E, Santos F, et al. The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe. Kidney Int, 2007, 72(7): 898.
|
15. |
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. Am J Nephrol, 2016, 44(2): 113-121.
|
16. |
Qin L, Shao L, Ren H, et al. Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome. Nephrology (Carlton), 2009, 14(1): 52-58.
|
17. |
Shao L, Ren H, Wang W, et al. Novel SLC12A3 mutations in Chinese patients with Gitelman’s syndrome. Nephron Physiol, 2008, 108(3): p29-p36.
|
18. |
Shao L, Liu L, Miao Z, et al. A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney. Am J Nephrol, 2008, 28(6): 900-907.
|
19. |
Morton A. Eplerenone in the treatment of Gitelman’s syndrome. Intern Med J, 2008, 38(5): 377.
|
20. |
Mascetti L, Bettinelli A, Simonetti GD, et al. Pregnancy in inherited hypokalemic salt-losing renal tubular disorder. Obstet Gynecol, 2011, 117(2 Pt 2): 512-516.
|
21. |
Basu A, Dillon RD, Taylor R, et al. Is normalisation of serum potassium and magnesium always necessary in Gitelman Syndrome for a successful obstetric outcome?. BJOG, 2004, 111(6): 630-634.
|
22. |
Calò LA, Caielli P. Gitelman’s syndrome and pregnancy: new potential pathophysiological influencing factors, therapeutic approach and materno-fetal outcome. J Matern Fetal Neonatal Med, 2012, 25(8): 1511-1513.
|
23. |
Oppermann M, Padberg S, Kayser A, et al. Angiotensin-Ⅱ receptor 1 antagonist fetopathy--risk assessment, critical time period and vena cava thrombosis as a possible new feature. Br J Clin Pharmacol, 2013, 75(3): 822-830.
|
24. |
Pucci M, Sarween N, Knox E, et al. Angiotensin-converting enzyme inhibitors and angiotensin receptor blockers in women of childbearing age: risks versus benefits. Expert Rev Clin Pharmacol, 2015, 8(2): 221-231.
|
25. |
Gallagher H, Soar J, Tomson C. New guideline for perioperative management of People with inherited salt-wasting alkaloses. Br J Anaesth, 2016, 116(6): 746-749.
|