Experience of diagnosis and treatment of Gitelman syndrome TIAN Shuo, YU Fang *, XU Yi, YANG Xiao-lin, LIU Ge-ling, XIAO Hong-zhen, WANG Chen

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1 Gitelman 3 [ ] 3 Gitelman Gitelman / ( 0.2) Gitelman Gitelman [ ] Gitelman [ ] R586 [ ] A [ ] (2017) [DOI] /j.issn Experience of diagnosis and treatment of Gitelman syndrome TIAN Shuo, YU Fang *, XU Yi, YANG Xiao-lin, LIU Ge-ling, XIAO Hong-zhen, WANG Chen Department of Endocrinology, Tangshan Gongren Hospital, Hebei Medical University, Tangshan, Hebei , China * Corresponding author, gryufang67@163.com This work was supported by 2015 Science and Technology Plan Project of Hebei Province ( D) [Abstract] Objective To analyze the clinical characteristics and provide the experiences in diagnosis and treatment of 3 cases of Gitelman syndrome (GitS). Methods Three patients diagnosed as GitS were selected as the objects in Tangshan gongren Hospital from Aug to Jan Their clinical data were retrospectively analyzed and combined with the related literatures, and the clinical characteristics and treatment experiences of the disease were discussed. Results Of the 3 patients, 2 were teenager onset and another one was adult onset. The blood pressure of the 3 patients was normal, and the clinical features were as paroxysmal weakness, tetany, polyuria and nocturia increased. Laboratory tests revealed low potassium, low sodium, low chlorine, hypomagnesemia, occasionally hypocalcemia, high urinary potassium, metabolic alkalosis, urine Ca/Cr 0.2, plasma rennin activity increased significantly and plasma aldosterone was normal. Being eliminated symptoms and phenomena were the potassium intake inadequate, loss of potassium in digestive tract, taking potassium excretion drugs, primary aldosteronism and Cushing syndrome. etc. Patients got symptoms relief and serum potassium level rose to near normal level after receiving the combined potassium and magnesium supplement. Conclusions The clinical characteristics of GitS manifest as fatigue, tetany, normal blood pressure, hypokalemia, hypomagnesemia, metabolic alkalosis, plasma rennin activity increases significantly and plasma aldosterone rises or normal. Treatment with combined potassium and magnesium supplement may lead to a good prognosis, but hypomagnesemia is harder to correct. Kidney damage can be avoided by early diagnosis and treatment. [Key words] Gitelman syndrome; hypokalemia; hypomagnesemia Gitelman (Gitelman syndrome GitS) [ ] 2015 ( D) [ ] [ ] ( ) [ ] gryufang67@163.com (thiazide sensitive sodium chloride cotransporter Na-Cl cotransporter NCCT) [1] [2]

2 Med J Chin PLA, Vol. 42, No. 12, December 1, Gitelman Gitelman 3 <0.66mmol/L >2mmol/24h 3 2 SLC12A3 1.2 CT d 10 4d mmol/L 1.04mmol/L 33.4mmol/L /min 18 /min 110/75mmHg 163cm 83kg 31.24kg/m d 3d 1d 2.42mmol/L 2.85mmol/L /min 23 /min 103/70mmHg 156cm 53kg 21.8kg/m ( ) 1.7mmol/L 1 ( ) 2 (3 /d) ( )4 (3 /d) 2 (3 /d) 4h 3.14mmol/L 1.0g /min 20 /min 139/73mmHg / ( 0.2) 1 ( 1) CT ( 1) 1 2 SLC12A3 3 SLC12A Tab.1 Laboratory examination of 3 patients in hospital Item Patient 1 Patient 2 Patient 3 Reference (range) Potassium (mmol/l) Magnesium (mmol/l) Sodium (mmol/l) Chlorine (mmol/l) Calcium (mmol/l) Phosphor (mmol/l) Urine potassium (mmol/l) Fasting glucose (mmol/l) Urea (mmol/l) Creatinine ( mol/l) Urine-calcium/Creatine <0.14 Decubitus renin (pg/ml) Decubitus aldosterone (pg/ml) Erect position renin (pg/ml) Erect position aldosterone (pg/ml)

3 Patient 1 Patient 2 Patient CT Fig.1 Adrenal gland CT of the 3 patients / ( 0.2) SLC12A3 Liddle Gitelman No. of patients Potassium chloride 2 3 Tab.2 Therapeutic regimen and outcome of the 3 patients Potassium magnesium aspartate tablets Spironolactone Ibuprofen Lotensin Potassium (nmol/l) Magnesium (nmol/l) 1 1.0g, 3/d 2 slice, 3/d 40mg, 3/d 0.1g, 3/d 10mg, 3/d g, 3/d 1 slice, 3/d 20mg, 3/d g, 3/d 2 slice, 3/d 40mg, 3/d No data Gitelman 3 Gitelman [3] [4] (1~2)/100 [5] [6] Gitelman NCCT SLC12A3 NCCT Na + /Cl Na + /H Na + /K - - (RAAS) ( Mg 2+ /Ca 2+ ) (PTH) Gitelman [7] [8] 70% Gitelman 3 [9-10] Ca/Cr 0.2 Ca/Cr 0.2 <0.66mmol/L >2mmol/24h Gitelman [11]

4 Med J Chin PLA, Vol. 42, No. 12, December 1, % Gitelman SLC12A3 140 [12] Thr60Met [13] 25% SLC12A3 (MIM ) 16q13 55kb 26 NCCT N 1 C [14-15] PTH PTH PTH [16] Gitelman 1 Ca/Cr( 0.2) 2 1 SLC12A3 1 1 Gitelman Gitelman mmol/L [17] [18] 1% [19] Gitelman [20] [21] [22] Gitelman - (renin-angiotensin system RAS) RAS [23] - ( ) Gitelman Gitelman [1] Pantanetti P, Arnaidi G, Balercia G, et al. Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome[ J]. Clin Endocrinol (Oxf), 2002, 56: [2] Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia[ J]. Trans

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