50例Gitelman综合征患者临床特征和药物治疗分析

赵喆; 唐彦; 周婧雅; 陈晓光; 张磊; 陈丽萌; 袁涛

doi:10.12290/xhyxzz.2021-0180

50例Gitelman综合征患者临床特征和药物治疗分析

doi: 10.12290/xhyxzz.2021-0180

赵喆^{1, 2},
唐彦¹,
周婧雅^{3, 4},
陈晓光²,
张磊⁵,
陈丽萌⁵,
袁涛^6, ,

1.
中国医学科学院北京协和医院药剂科，北京 100730
2.
中国医学科学院北京协和医学院药物研究所天然药物活性物质与功能国家重点实验室，北京 100050
3.
中国医学科学院北京协和医院病案科，北京 100730
4.
世界卫生组织疾病分类家族中国合作中心，北京 100730
5.
中国医学科学院北京协和医院肾内科，北京 100730
6.
中国医学科学院北京协和医院内分泌科国家卫生健康委员会内分泌重点实验室，北京 100730

基金项目:

中国医学科学院医学与健康科技创新工程 2016-I2M-4-001

中国医学科学院中央级公益性科研院所基本科研业务费专项资金 2017PT32020

中国医学科学院中央级公益性科研院所基本科研业务费专项资金 2018PT32001

详细信息

通讯作者:
袁涛，E-mail：t75y@sina.com

中图分类号: R596.1
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出版历程
- 收稿日期: 2021-02-07
- 录用日期: 2021-03-29
- 刊出日期: 2022-03-30

Analysis of Clinical Manifestations and Drug Therapies of Gitelman Syndrome

ZHAO Zhe^{1, 2},
TANG Yan¹,
ZHOU Jingya^{3, 4},
CHEN Xiaoguang²,
ZHANG Lei⁵,
CHEN Limeng⁵,
YUAN Tao^{6
, ,}

1.
Department of Pharmacy, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
2.
State Key Laboratory of Bioactive Substrate and Function of Natural Medicine, Institute of Materia Medica, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100050, China
3.
Department of Medical Records, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
4.
Collaborating Center for the WHO Family of International Classifications in China, Beijing 100730, China
5.
Department of Nephrology, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
6.
Department of Endocrinology, Key Laboratory of Endocrinology of National Health Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

Funds:

CAMS Innovation Fund for Medical Sciences 2016-I2M-4-001

the Non-Profit Central Research Institute Fund of Chinese Academy of Medical Sciences 2017PT32020

the Non-Profit Central Research Institute Fund of Chinese Academy of Medical Sciences 2018PT32001

More Information

Corresponding author: YUAN Tao, E-mail: t75y@sina.com

摘要

摘要: 目的总结Gitelman综合征(Gitelman syndrome, GS)患者的临床特征及药物治疗情况，以提高临床诊疗水平。方法回顾性分析2007年1月至2019年12月北京协和医院临床诊断为GS且住院治疗患者的临床资料。对其临床表现、实验室检查、肾穿刺活检病理特征以及药物治疗情况进行归纳，并根据是否使用螺内酯，分为单纯补钾组和联合螺内酯组，比较两组的治疗效果。结果共纳入50例GS患者，其中男性30例，女性20例；平均年龄(30.78±13.99)岁。最常见的临床表现为乏力(54.0%，27/50)，其他临床表现包括四肢无力(40.0%，20/50)、肢体麻木(26.0%，13/50)、软瘫(26.0%，13/50)、心悸(16.0%，8/50)、夜尿增多(14.0%，7/50)。入院时血钾(2.55±0.45)mmol/L，血镁(0.64± 0.20)mmol/L，24 h尿钾(92.25±41.33)mmol，24 h尿镁(3.75±2.14)mmol，24 h尿钙0.68(0.38, 1.32)mmol；血气分析结果显示, 29例(58.0%)发生代谢性碱中毒；31例接受卧立位醛固酮试验的患者中，21例(67.7%)存在肾素-血管紧张素-醛固酮系统激活。7例(14.0%，7/50)患者行肾穿刺活检术，其中1例肾小球系膜增生，5例肾小球旁器明显增生，另1例未见明显肾小球旁器增生。50例患者均接受口服补钾治疗，平均补钾量为(1.62±1.25)mmol/(kg·d)。其中，46例(92.0%，46/50)口服氯化钾缓释片(1.5~12 g/d)；19例(38.0%，19/50)口服20%枸橼酸钾口服溶液(40~200 mL/d，分2~4次服用)；37例(74.0%，37/50)接受门冬氨酸钾镁片治疗(2~15片/d)；32例(64.0%，32/50)使用螺内酯片(20~240 mg/d)；2例(4.0%，2/50)使用钙镁片(3片/d)。联合螺内酯组治疗后血钾升高水平显著高于单纯补钾组[(1.07±0.61)mmol/L比(0.73±0.59)mmol/L，P＜0.05]。50例患者出院时平均血钾为(3.49±0.44)mmol/L，血镁为(0.67±0.16)mmol/L。结论 GS多见于青少年或成年人，但儿童亦可发病。最常见的症状是乏力，实验室检查可见低血钾、低血镁、低尿钙、代谢性碱中毒及肾素-血管紧张素-醛固酮系统激活等表现。该病治疗主要为对症治疗，联合螺内酯可提高补钾效果，总体预后较好。
- Gitelman综合征 /
- 临床表现 /
- 药物治疗 /
- 血钾
Abstract: Objective To analyze the clinical characteristics and medical treatment of patients with Gitelman syndrome(GS) for further improvement. Methods A retrospective study was conducted on patients with GS hospitalized in Peking Union Medical College Hospital from January, 2008 to December, 2019. Their clinical manifestations, laboratory examinations, pathological features, and drug treatments were summarized. In addition, according to whether spironolactone is used or not, these patients were divided into a simple potassium supplementation group and a spironolactone-combined group. The effect of treatment between the two groups were compared. Results The male to female ratio of 50 patients was 1.5∶1(male: 30, female: 20), and the age at first diagnosis was (30.78±13.99) years old. Among the 50 patients, the most common clinical manifestation was fatigue (54.0%, 27/50), and other clinical manifestations included limb weakness (40.0%, 20/50), limb numbness (26.0%, 13/50), flaccid paralysis (26.0%, 13/50), palpitation (16.0%, 8/50), and nocturia (14.0%, 7/50). At admission, they had serum potassium (2.55±0.45)mmol/L, serum magnesium (0.64± 0.20)mmol/L, 24 h urine potassium (92.25±41.33)mmol, 24 h urine magnesium (3.75±2.14)mmol, and 24 h urine calcium 0.68(0.38, 1.32)mmol. The blood gas analysis Results suggested that most patients had metabolic alkalosis. Seven patients (14.0%, 7/50) underwent renal biopsy, showing 1 case of glomerular mesangial hyperplasia, 5 cases of obvious hyperplasia of juxtaglomerular apparatus, and 1 case of no obvious hyperplasia of juxtaglomerular apparatus. All the 50 patients received oral potassium supplementation of (1.62±1.25)mmol/(kg·d). 46 patients (92.0%, 46/50) were treated with potassium chloride sustained-release tablets (1.5-12 g/d) for potassium supplementation, while 19 patients (38.0%, 19/50) received regimens containing oral solution of 20% potassium citrate (40-200 mL/d, 2-4 times/d). In addition, potassium magnesium aspartate (2-15 tablets/d) was used in 37 patients (74.0%, 37/50), and spironolactone (20-240 mg/d) in 32 patients (64.0%, 32/50). For 2 patients (4.0%, 2/50), calcium and magnesium tablets (3 tablets/d) were applied. To be noted, the increase of serum potassium after treatment in the spironolactone-combined group was significantly higher than that in the simple potassium supplement group [(1.07±0.61)mmol/L vs. (0.73±0.59)mmol/L, P < 0.05]. At discharge, the serum potassium was (3.49±0.44)mmol/L, and the serum magnesium was (0.67±0.16)mmol/L in 50 patients. Conclusions GS occurs more often in adolescents and adults, but is also witnessed in children. It is characterized most commonly by fatigue, and accompanied by other clinical manifestations like hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and renin-angiotensin-aldosterone system activation. Symptomatic treatment is its main therapy, and the combination of spironolactone can improve the effect of potassium supplementation. Patients with GS have favorable prognosis.
- Gitelman syndrome /
- clinical manifestation /
- drug therapy /
- serum potassium
注释:

作者贡献：赵喆、周婧雅负责数据收集、论文撰写；唐彦、陈晓光、袁涛负责研究设计；张磊、陈丽萌、袁涛负责数据质控和审核；所有作者均参与论文审阅及修订。

利益冲突：所有作者均声明不存在利益冲突

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表 1 50例Gitelman综合征患者临床特征(按入院时间排序)

患者编号	性别	年龄(岁)	病程(年)	起病年龄(岁)	身高(cm)	体质量(kg)	BMI (kg/m²)	低钾血症家族史	临床症状	血压(mm Hg)	尿常规	血肌酐(μmol/L)	合并症
1	男	13	4	9	169	57	19.95	无	无力、软瘫	106/70	/	72	/
2	男	24	6	18	163	58.5	22.02	无	麻木、无力、抽搐	120/80	(-)	84	脂肪肝
3	男	35	0.08	35	172	76.5	25.86	无	腹胀、乏力、麻木、抽搐	110/80	尿蛋白可疑阳性	103	/
4	女	29	13	16	170	68	23.53	无	乏力、麻木、憋气、夜尿增多	110/70	(-)	65	结节性甲状腺肿，胆囊息肉，子宫肌瘤
5	男	38	10	28	170	85	29.41	无	无力、软瘫、心悸、胸闷、夜尿增多	120/90	尿比重≥1.030	95	脂肪肝
6	女	20	12	8	159	50	19.78	无	乏力、软瘫、心慌、手抖	90/60	(-)	78	Graves病
7	女	22	17	5	155	50	20.81	无	软瘫、无力、麻木、夜尿增多	100/80	(-)	73	血脂异常
8^#	女	51	1	50	160	68	26.56	无	乏力、头晕、腹泻、发热、关节痛	130/80	(-)	75	糖耐量异常，乳腺增生
9^#	男	24	4	20	175	92	30.04	祖父、父母	乏力、心悸、双手抽搐	110/70	/	83	糖耐量异常，脂肪肝
10	男	29	0.05	29	156	51.5	21.16	无	乏力、夜尿增多	120/80	(-)	106	/
11^†	男	42	3	39	/	/	/	无	乏力、心悸、关节痛	100/60	(-)	90	系膜增生性肾小球肾炎
12	女	4	1	3	102.3	14.5	13.86	无	乏力	105/70	(-)	43	/
13	男	18	11	7	172	63.5	21.46	姨妈	麻木、无力、四肢僵硬、痉挛	100/60	尿蛋白可疑阳性	/	/
14	男	35	0.67	35	170	66	22.84	表兄	乏力、心悸	120/80	(-)	87	脂肪肝
15	女	34	1	33	163	85	32.00	无	乏力、麻木、夜尿增多	110/70	尿蛋白可疑阳性	71	代谢综合征，胆结石
16	女	59	3	56	156	50	20.55	无	心悸、乏力、头晕、麻木	110/70	(-)	71	甲状腺功能减低，慢性甲状腺炎
17	女	16	8	8	152	54	23.37	母亲、妹妹	双手足发麻、双手痉挛，四肢僵硬，不能行走	100/70	WBC 125/μL	/	/
18	女	16	8	8	156	48	19.72	母亲、姐姐	四肢麻木、乏力，伴心慌、怕热、多汗及手抖	100/70	WBC 70/μL；RBC可疑阳性	54	/
19	女	40	10	30	160.5	67.5	26.20	两个女儿	四肢麻木、乏力，夜尿增多	100/70	WBC 15/μL；RBC 8.9/μL	57	亚临床甲状腺功能减低，缺铁性贫血
20	女	57	0.17	57	/	/	/	无	乏力、关节痛、肌肉痛2个月，发作性软瘫、低血钾1个月	120/80	/	/	糖尿病
21^#	男	38	7	31	170	72.5	25.09	无	发作性软瘫、四肢肢无力，双下肢为著，伴双侧小腿轻微酸痛	112/70	尿蛋白0.15 g/L	120	缺血性肾病，2型糖尿病
22	男	19	1	18	172	52	17.58	无	四肢无力，难以行走，发作性软瘫	100/62	(-)	66	类马凡体型，左肾上腺切除后，右肾囊肿
23^#	男	23	10	13	177	64	20.43	无	发作性四肢无力	106/68	尿蛋白0.15 g/L	73	/
24	女	37	14	23	165	52	19.10	无	全身乏力，伴心悸、汗出	120/66	(-)	44	原发性甲状腺功能亢进
25	男	25	6	19	172	62.5	21.13	哥哥	四肢发软无力、发作性软瘫	106/73	尿蛋白0.75 g/L，BLD 150/μL	88	/
26	男	14	2	12	172	83	28.06	无	下肢无力、行走困难	120/77	RBC 36.6/μL	63	/
27^*	男	40	10	30	168	62	21.97	无	间断肢体麻木、痉挛，肌肉疼痛	123/95	(-)	60	甲状腺功能亢进，高甘油三酯血症
28^#	男	39	8	31	157.5	60	24.19	无	乏力、心悸逐渐加重，伴头晕、头痛、四肢麻木	135/90	WBC 22.3/μL	63	高脂血症，前列腺增生
29	男	23	5	18	173	48	16.04	无	四肢乏力软瘫	95/56	(-)	120	/
30	男	44	27	17	177	80	25.54	母亲、侄女	全身乏力、双下肢间断软瘫	130/85	(-)	77	血脂异常，甲状腺右叶结节
31	男	46	35	11	173.5	63.5	21.09	无	肢体无力	100/70	尿比重1.009	92	/
32	女	26	0.25	26	165	56	20.57	无	偶有乏力	107/77	BLD 25/μL，RBC 21.0/μL，BACT 605.4/μL	/	/
33	男	18	0.75	18	178	72	22.72	姐姐	反复手部抽搐、下肢无力	100/70	(-)	55	/
34	男	14	4	10	153.5	54	22.92	无	双下肢肌肉乏力、酸痛伴发作性软瘫	105/70	尿蛋白可疑阳性	53	高胰岛素血症，双眼近视，双眼弱视
35	女	51	20	31	168	77	27.28	无	下肢乏力	140/74	/	60	高血压，脂肪肝，子宫肌瘤
36	女	30	0.08	30	168	64.5	22.85	无	夜尿增多	120/90	尿蛋白可疑阳性	57	糖耐量异常，肝功能异常，高尿酸血症
37	男	17	0.5	17	164	39	14.50	无	肌肉疼痛、软瘫	121/32	(-)	59	/
38	男	20	5	15	166	73	26.49	父亲	四肢软瘫	120/64	(-)	84	/
39	女	19	2	17	160	62.5	24.41	无	双下肢无力	112/63	尿蛋白可疑阳性，RBC 4.0/μL	53	甲状腺功能亢进
40	男	34	16	18	163	56	21.07	无	肢体乏力	134/80	(-)	65	脂肪肝，维生素D缺乏
41	男	42	36	6	168	65.5	23.21	无	四肢麻木、乏力	134/80	(-)	83	高脂血症，颈椎骨质增生
42	男	27	7	20	174	72	23.78	无	四肢抽搐、全身乏力	118/65	(-)	73	高尿酸血症
43	男	14	10	4	172	56	18.92	父亲	口渴、多尿	106/64	(-)	58	双肾弥漫性病变，甲状腺囊性结节
44	女	52	2	50	157	41	16.63	不详	肢体无力、双手抽搐	118/79	(-)	56	/
45	男	21	18	3	174	61	20.15	无	手足抽搐、四肢乏力	129/60	(-)	82	慢性咽炎，鼻炎
46	女	43	16	27	165	52	19.10	不详	手足抽搐	112/78	RBC 26.1/μL	47	糖耐量异常
47	女	31	1	30	150	33	14.67	无	手足抽搐、麻木	/	/	49	糖耐量异常
48	男	65	2	63	171	69	23.60	无	下肢乏力	153/80	尿蛋白可疑阳性	76	高血压，高尿酸血症
49	女	48	3	45	157	55	22.31	无	上肢疼痛	111/71	(-)	43	/
50	男	13	1	12	146	35	16.42	无	乏力、心悸	114/64	(-)	37	/
^#病理显示肾小球旁器增生；^†病理显示肾小球系膜增生；^*病理结果未见肾小球旁器增生；BMI：体质量指数；BACT：细菌数；BLD：尿潜血；RBC：红细胞；WBC：白细胞；/：数据无法获得

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表 2 50例Gitelman综合征患者实验室检查结果

指标	检测结果	参考范围
血钾(x±s，mmol/L)	2.55±0.45	3.5~5.5
血镁(x±s，mmol/L)	0.64±0.20	0.70~1.10
24 h尿钾(x±s，mmol)	92.25±41.33	-
24 h尿镁(x±s，mmol)	3.75±2.14	-
24 h尿钙[M(P₂₅, P₇₅)，mmol]	0.68(0.38, 1.32)	2.5~7.5
pH[M(P₂₅, P₇₅)]	7.46(7.45, 7.48)	7.35~7.45
碱剩余[M(P₂₅, P₇₅)，mmol/L]	4.75(3.33, 6.15)	-3~3
HCO₃^-[M(P25, P75)，mmol/L]	28.70(26.78, 29.93)	22~28
-: 无具体参考值范围

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表 3 Gitelman综合征患者初诊卧立位醛固酮试验结果[M(P₂₅, P₇₅)，n=31]

指标	卧位		立位
指标	检测结果	参考范围	检测结果	参考范围
肾素[ng/(mL·h)]	1.60(0.55, 4.50)	0.05~0.79	4.60(1.60, 12.00)	1.95~3.99
血管紧张素Ⅱ(ng/L)	133.71(83.04, 199.54)	28.2~52.2	250.30(134.89, 391.76)	55.3~115.3
醛固酮(ng/L)	152.0(112.7, 189.4)	48.5~123.5	193.1(134.1, 260.7)	62.7~239.9

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表 4 50例Gitelman综合征患者治疗前后血镁、血钾变化情况

患者编号	治疗前		平均补钾量[mmol/(kg·d)]	治疗后
患者编号	血钾(mmol/L)	血镁(mmol/L)	平均补钾量[mmol/(kg·d)]	血钾(mmol/L)	血镁(mmol/L)
1	1.80	0.61	0.76	3.40	0.69
2	2.37	0.48	0.69	3.40	0.61
3	2.60	0.58	2.12	3.10	/
4	2.66	0.52	0.38	3.10	/
5	2.40	0.33	1.73	3.60~3.90	0.67
6	1.80	0.56	3.34	3.40	0.67
7	1.70	0.60	6.04	3.80~4.50	0.67
8	2.48	0.46	1.31	3.41~3.60	0.48~0.60
9	2.50	0.56	0.32	3.30~3.40	0.54
10	1.93	0.52	1.67	3.00~3.20	/
11	2.60	0.53	/	3.20	0.87
12	2.42	0.62	0.13	3.60	0.66
13	1.70	0.59	1.96	3.30	0.64
14	2.70	0.54	1.93	3.10~3.20	/
15	2.30	0.41	1.04	3.20	0.32
16	2.62	0.46	2.49	3.60~4.30	/
17	3.40	0.57	0.90	3.50	0.58
18	2.80	0.61	1.43	3.40	0.62
19	2.90	0.40	1.02	2.90	0.39
20	2.60	0.40	/	3.10	0.40
21	2.10	/	1.38	3.30	/
22	2.50	0.57	0.27	3.50	0.66
23	2.90	0.76	0.67	3.40	/
24	2.86	0.88	1.59	3.40	0.95
25	1.60	1.05	0.97	3.00	1.07
26	3.10	0.71	1.00	3.60	0.72
27	2.60	0.44	0.65	3.30	0.40
28	2.00	0.61	1.15	4.20	0.73
29	2.80	0.88	1.79	3.20	0.90
30	3.30	0.81	0.76	2.70	0.84
31	2.60	0.66	1.64	3.40~3.60	/
32	2.70	0.58	1.18	3.60	0.58
33	2.90	0.55	1.12	3.10	0.58
34	2.50	0.75	3.24	3.90	0.80
35	2.80	0.52	0.46	3.80	0.59
36	2.80	0.98	1.87	3.10	0.87
37	3.00	0.60	4.81	3.40	0.66
38	2.10	0.70	2.66	4.00	0.74
39	2.90	/	1.62	3.40	0.75
40	2.50	0.64	4.14	3.90	/
41	2.00	1.40	0.91	2.90	0.61
42	2.90	0.51	0.96	3.20	0.51
43	1.90	0.76	0.87	3.60	0.69
44	3.40	0.61	1.25	5.20	0.95
45	2.40	0.62	1.94	3.30	/
46	2.70	0.56	0.83	3.70	0.56
47	2.30	0.94	2.44	3.30	/
48	2.70	/	0.88	3.80	0.63
49	3.00	0.97	0.98	3.40	/
50	3.30	0.89	4.63	4.10	/
/：同表 1

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50例Gitelman综合征患者临床特征和药物治疗分析

doi: 10.12290/xhyxzz.2021-0180

通讯作者:
袁涛，E-mail：t75y@sina.com

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Analysis of Clinical Manifestations and Drug Therapies of Gitelman Syndrome

Corresponding author: YUAN Tao, E-mail: t75y@sina.com

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50例Gitelman综合征患者临床特征和药物治疗分析

doi: 10.12290/xhyxzz.2021-0180

通讯作者: 袁涛，E-mail：t75y@sina.com

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Analysis of Clinical Manifestations and Drug Therapies of Gitelman Syndrome

Corresponding author: YUAN Tao, E-mail: t75y@sina.com

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出版历程

目录

通讯作者:
袁涛，E-mail：t75y@sina.com