Clinical characteristics of hereditary renal tubular disease in hypokalemia

doi:10.3969/j.issn.1004-583X.2021.05.010

Abstract

Abstract:

Objective To improve the level of diagnosis and treatment of hereditary renal tubular diseases by collecting clinical characteristics and prognostic events of hypokalemia caused by different pathogenic factors. Methods A retrospective analysis was conducted on the patients with hypokalemia admitted to the ward of Pediatric Endocrinology Department, Provincial Hospital Affiliated to Shandong First Medical University. Easily identifiable factors of gastrointestinal potassium loss and malnutrition were excluded. Clinical data were collected. Some patients received genetic detection, and clinical characteristics of hereditary renal tubular disease were analyzed. Results In 65 patients with hypokalemia, there were 29 male cases and 36 female cases. A total of 47 cases were found to have hereditary renal tubular diseases, including Bartter syndrome (23 cases), renal tubular acidosis (14 cases), Gitelman syndrome (8 cases) and Fanconi syndrome (2 cases). Ten patients underwent genetic testing, 9 cases had confirmed pathogenic mutations (including one novel mutation). Bartter syndrome showed hypokalemia, hyponatremia and hypochloremic metabolic alkalosis. Gitelman syndrome was characterized by hypokalemia and hypochloremia, and nenal tubular acidosis was characterized by hyperchloremic acidosis. The onset age of Bartter syndrome was the youngest, followed by renal tubular acidosis, and older patients were often found in Gitelman syndrome. The most common symptoms of Bartter syndrome were gastrointestinal discomfort, polydipsia & urorrhagia, and growth retardation. Gitelman syndrome was mainly caused by gastrointestinal symptoms, growth retardation and weakness. Renal tubular acidosis patients were mainly characterized by limb weakness and growth retardation. The children with hereditary renal tubular diseases had great prognosis after treatment, and most of patients achieved biochemical normalization and catch-up growth. Conclusion Hereditary renal tubular disease is an important cause of hypokalemia with different clinical and biochemical characteristics. Genetic examination is useful for diagnosis, and long-term treatment and follow-up makes for improving prognosis.

Key words: hypokalemia, hereditary tubular disease, genetic testing, Bartter syndrome, Gitelman syndrome

CLC Number:

R692.9

Liu Fan, Sun Yan, Xu Chao, Shang Xiaohong, Qiao Yu, Li Guimei. Clinical characteristics of hereditary renal tubular disease in hypokalemia[J]. Clinical Focus, 2021, 36(5): 436-441.

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URL: http://www.lchc.cn/EN/10.3969/j.issn.1004-583X.2021.05.010

http://www.lchc.cn/EN/Y2021/V36/I5/436

Figures/Tables 6

References 21

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疾病种类	例数	性别(例)		百分比(%)
疾病种类	例数	男	女	百分比(%)
Bartter综合征	23	15	8	35.40
肾小管酸中毒	14	2	12	21.54
Gitelman综合征	8	5	3	12.31
不明原因	5	2	3	7.69
糖尿病	3	2	1	4.62
肿瘤	2	1	1	3.08
范可尼综合征	2	1	1	3.08
甲基丙二酸血症	2	0	2	3.08
原发性醛固酮综合征	1	1	0	1.54
甲状腺功能亢进	1	0	1	1.54
肾损害	1	1	0	1.54
低磷性佝偻病	1	0	1	1.54
Cushing病	1	0	1	1.54
高苷酸尿症	1	0	1	1.54

疾病种类	例数	性别(例)		百分比(%)
疾病种类	例数	男	女	百分比(%)
Bartter综合征	23	15	8	35.40
肾小管酸中毒	14	2	12	21.54
Gitelman综合征	8	5	3	12.31
不明原因	5	2	3	7.69
糖尿病	3	2	1	4.62
肿瘤	2	1	1	3.08
范可尼综合征	2	1	1	3.08
甲基丙二酸血症	2	0	2	3.08
原发性醛固酮综合征	1	1	0	1.54
甲状腺功能亢进	1	0	1	1.54
肾损害	1	1	0	1.54
低磷性佝偻病	1	0	1	1.54
Cushing病	1	0	1	1.54
高苷酸尿症	1	0	1	1.54

项目	Bartter综合征(n=23)	Gitelman综合征(n=8)	肾小管酸中毒(n=14)	F值	P值
年龄(岁)	3.21±3.69	9.75±3.62	4.56±4.40	-	-
性别/(男/女,例)	15/8	5/3	2/12	5.813	0.0059
K⁺(mmol/L)	2.58±0.65	2.74±0.34	2.73±0.56	0.7007	0.5019
Ca²⁺(mmol/L)	2.58±0.18	2.33±0.52	2.24±0.47	0.02061	0.9796
Mg²⁺(mmol/L)	0.94±0.26	0.66±0.08	0.99±0.34	2.37	0.1231
Cl⁺(mmol/L)	84.3±14.01	96.88±3.04	113.57±6.02	18.6	0.0001
Na⁺(mmol/L)	130.97±7.32	138.75±2.19	136.06±8.38	0.5989	0.5581
Cr(mmol/L)	30.92±16.23	31.67±10.08	36.37±10.57	0.1138	0.8930
BUN(mmol/L)	4.06±2.27	4.44±1.57	3.66±1.66	1.230	0.3117
醛固酮(pg/ml)	425.39±391.99	153.50±26.23	-	-	-
肾素(pg/ml)	323.49±460.10	283.8±226.02	-	-	-
收缩压(mmHg)	92.25±11.47	106.71±15.70	96.22±12.50	2.128	0.1618
舒张压(mmHg)	62.67±7.58	67.14±8.53	61.89±3.55	2.168	0.1571
CO₂(mmol/L)	28.69±6.65	29.81±4.66	12.88±2.37	10.45	0.0002

项目	Bartter综合征(n=23)	Gitelman综合征(n=8)	肾小管酸中毒(n=14)	F值	P值
年龄(岁)	3.21±3.69	9.75±3.62	4.56±4.40	-	-
性别/(男/女,例)	15/8	5/3	2/12	5.813	0.0059
K⁺(mmol/L)	2.58±0.65	2.74±0.34	2.73±0.56	0.7007	0.5019
Ca²⁺(mmol/L)	2.58±0.18	2.33±0.52	2.24±0.47	0.02061	0.9796
Mg²⁺(mmol/L)	0.94±0.26	0.66±0.08	0.99±0.34	2.37	0.1231
Cl⁺(mmol/L)	84.3±14.01	96.88±3.04	113.57±6.02	18.6	0.0001
Na⁺(mmol/L)	130.97±7.32	138.75±2.19	136.06±8.38	0.5989	0.5581
Cr(mmol/L)	30.92±16.23	31.67±10.08	36.37±10.57	0.1138	0.8930
BUN(mmol/L)	4.06±2.27	4.44±1.57	3.66±1.66	1.230	0.3117
醛固酮(pg/ml)	425.39±391.99	153.50±26.23	-	-	-
肾素(pg/ml)	323.49±460.10	283.8±226.02	-	-	-
收缩压(mmHg)	92.25±11.47	106.71±15.70	96.22±12.50	2.128	0.1618
舒张压(mmHg)	62.67±7.58	67.14±8.53	61.89±3.55	2.168	0.1571
CO₂(mmol/L)	28.69±6.65	29.81±4.66	12.88±2.37	10.45	0.0002

组别	例数	胃肠道症状	生长迟缓	多饮多尿	四肢乏力	消瘦	发热
Bartter综合征	23	2(8.7)	6(26.1)	8(34.8)	2(8.7)	1(4.3)	4(17.4)
Gitelman综合征	8	0	4(50.0)	1(12.5)	3(37.5)	0	0
肾小管酸中毒	14	2(14.3)	9(64.3)	1(7.1)	2(14.3)	0	0