Clinical characteristics and relevant factors of cardiac and renal damage in patients with Fabry disease

doi:10.3877/cma.j.issn.2095-3216.2019.02.002

Abstract

Abstract:

Objective

The purpose of this study was to investigate the clinical characteristics and the relevant factors of cardiac and renal damage in Chinese patients with Fabry disease.

Methods

The clinical data of 108 patients with Fabry disease were collected. According to whether there was kidney damage or cardiovascular damage, and whether there was joint damage of the heart and kidney, the patients were divided into groups, and the clinical characteristics and relevant factors of each group were analyzed.

Results

(1) Compared with the group without renal damage, patients with renal damage had higher incidence to suffer from neuropsychiatric symptoms, ocular symptoms, cardiovascular symptoms, digestive symptoms, and respiratory symptoms (P<0.05). The independent factors associated with renal damage were hearing loss, tinnitus, and hypertension. (2) Compared with the group without cardiovascular damage, patients with cardiovascular damage had higher incidence to be older, and to suffer from longer disease duration, decreased attention, depression, anxiety, corneal turbidity, conjunctiva and retinal vascular circuity, lens capsule turbidity, tinnitus, hearing loss, nausea, vomiting, chronic renal insufficiency, and chronic bronchitis (P< 0.05). The factors associated with cardiovascular damage were depression and/or anxiety, and the age at diagnosis. (3) Compared with the cardiovascular damage group, the renal damage group, and the group without heart and kidney joint damage, the group of heart and kidney joint damage had higher incidence to be older, and to suffer from longer disease duration, depression, anxiety, tinnitus, hearing loss, sensorineural hearing loss, nausea, vomiting, and chronic bronchitis (P< 0.05). The independent related factors of heart and kidney joint damage were age at diagnosis and tinnitus. The independent related factors of heart and kidney joint damage were age at diagnosis and tinnitus.

Conclusions

The incidence of many systemic symptoms in patients with simultaneous heart and kidney damage or separate heart or kidney damage was higher, with the symptoms being more severe than in patients with healthy heart and kidney. The relevant factors of renal damage were hypertension, tinnitus, and hearing loss, while the related factors of cardiovascular damage were depression and/or anxiety and the age at diagnosis.

Key words: Fabry disease, Cardiovascular damage, Renal damage, Related factors

Xi Yang, Yuansheng Xie, Yue Mi, Qinggang Li, Guangyan Cai, Xiangmei Chen. Clinical characteristics and relevant factors of cardiac and renal damage in patients with Fabry disease[J]. Chinese Journal of Kidney Disease Investigation(Electronic Edition), 2019, 08(02): 55-61.

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Figures/Tables 6

References 20

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指标		所有患者(n＝108)	有肾脏损害(n＝71)	无肾脏损害(n＝37)	P值
年龄(岁)		31.85±11.43	33.00(25.00，40.00)	30.00(17.00，40.00)	0.214
初发年龄(岁)		10.00(8，13)	10.00(8.00，14.00)	10.00(8.00，13.00)	0.717
确诊年龄(岁)		28.83±11.33	29.00(24.00，35.00)	24.00(15.00，37.00)	0.178
病程(年)		19.00(8，28)	19.00(8.00，28.00)	12.00(6.50，27.50)	0.464
神经精神症状[例(%)]		108(100)	71(100)	37(100)	－
?	疼痛	90(83.33)	61(85.92)	29(78.38)	0.319
?	疲劳	107 (99.07)	71(100)	36(97.30)	0.343
?	头晕晕厥	55(50.93)	40(56.34)	15(40.54)	0.119
?	注意力下降	60(55.55)	42(59.15)	18(48.65)	0.297
?	抑郁和(或)焦虑	43(39.81)	33(46.48)	10(27.03)	0.050
?	脑梗死	6(5.56)	4(5.63)	2(5.41)	1.000
?	脑出血	4(3.70)	3(4.23)	1(2.70)	1.000
眼部症状[例(%)]		85(78.70)	61(85.92)	24(64.86)	0.010
?	视力下降	54(50.0)	41(73.23)	13(35.14)	0.030
?	角膜涡状浑浊	32(29.63)	23(32.39)	9(24.32)	0.380
?	晶状体后囊浑浊	24(22.22)	19(26.76)	5(13.51)	0.120
?	视网膜血管迂曲	23(21.3)	16(22.54)	7(18.92)	0.663
?	结膜血管迂曲	18(16.67)	12(16.90)	6(16.22)	0.928
皮肤异常表现[例(%)]		84(77.77)	59(83.10)	25(67.57)	0.060
?	血管角质瘤	59(54.63)	45(63.34)	14(37.84)	0.010
?	无汗或少汗	76(70.37)	53(74.65)	23(62.16)	0.180
耳部异常表现[例(%)]		79(73.15)	62(87.32)	17(45.95)	<0.001
?	听力下降	52(48.15)	46(64.79)	6(16.22)	<0.001
?	感音性耳聋	13(12.04)	12(16.90)	1(2.70)	0.070
?	耳鸣	54(50.00)	44(61.97)	10(27.03)	0.001
消化系统症状[例(%)]		77(71.3)	61(85.92)	26(70.27)	0.050
?	腹痛	27(25.00)	21(29.58)	6(16.22)	0.130
?	腹泻	60(55.56)	41(57.75)	19(51.35)	0.530
?	便秘	17(15.74)	12(16.90)	5(13.51)	0.650
?	恶心呕吐	33(30.56)	28(39.44)	5(13.51)	0.006
?	肠道功能紊乱	40(37.04)	32(45.07)	8(21.62)	0.020
心血管系异常表现[例(%)]		72(66.67)	53(74.65)	19(51.35)	0.020
?	心肌肥厚	38(35.19)	30(42.25)	8(21.62)	0.030
?	传导阻滞	4(3.70)	2(2.82)	2(5.41)	0.499
?	心动过速	42(38.89)	29(40.85)	13(35.14)	0.563
?	瓣膜功能不全	16(14.81)	11(15.49)	5(13.51)	0.783
?	高血压	25(23.15)	23(32.39)	2(5.41)	0.002
?	心功能衰竭	11(10.19)	10(14.08)	1(2.70)	0.128
骨骼肌肉系统症状[例(%)]		40(37.04)	29(40.85)	11(29.73)	0.260
?	骨质疏松	40(37.04)	29(40.85)	11(29.73)	0.260
呼吸系统异常表现[例(%)]		23(21.3)	21(29.58)	2(5.41)	0.004
?	慢性阻塞性肺病	5(4.63)	5(7.04)	0(0)	0.240
?	慢性支气管炎	18(16.67)	16(22.54)	2(5.41)	0.020

指标		所有患者(n＝108)	有肾脏损害(n＝71)	无肾脏损害(n＝37)	P值
年龄(岁)		31.85±11.43	33.00(25.00，40.00)	30.00(17.00，40.00)	0.214
初发年龄(岁)		10.00(8，13)	10.00(8.00，14.00)	10.00(8.00，13.00)	0.717
确诊年龄(岁)		28.83±11.33	29.00(24.00，35.00)	24.00(15.00，37.00)	0.178
病程(年)		19.00(8，28)	19.00(8.00，28.00)	12.00(6.50，27.50)	0.464
神经精神症状[例(%)]		108(100)	71(100)	37(100)	－
?	疼痛	90(83.33)	61(85.92)	29(78.38)	0.319
?	疲劳	107 (99.07)	71(100)	36(97.30)	0.343
?	头晕晕厥	55(50.93)	40(56.34)	15(40.54)	0.119
?	注意力下降	60(55.55)	42(59.15)	18(48.65)	0.297
?	抑郁和(或)焦虑	43(39.81)	33(46.48)	10(27.03)	0.050
?	脑梗死	6(5.56)	4(5.63)	2(5.41)	1.000
?	脑出血	4(3.70)	3(4.23)	1(2.70)	1.000
眼部症状[例(%)]		85(78.70)	61(85.92)	24(64.86)	0.010
?	视力下降	54(50.0)	41(73.23)	13(35.14)	0.030
?	角膜涡状浑浊	32(29.63)	23(32.39)	9(24.32)	0.380
?	晶状体后囊浑浊	24(22.22)	19(26.76)	5(13.51)	0.120
?	视网膜血管迂曲	23(21.3)	16(22.54)	7(18.92)	0.663
?	结膜血管迂曲	18(16.67)	12(16.90)	6(16.22)	0.928
皮肤异常表现[例(%)]		84(77.77)	59(83.10)	25(67.57)	0.060
?	血管角质瘤	59(54.63)	45(63.34)	14(37.84)	0.010
?	无汗或少汗	76(70.37)	53(74.65)	23(62.16)	0.180
耳部异常表现[例(%)]		79(73.15)	62(87.32)	17(45.95)	<0.001
?	听力下降	52(48.15)	46(64.79)	6(16.22)	<0.001
?	感音性耳聋	13(12.04)	12(16.90)	1(2.70)	0.070
?	耳鸣	54(50.00)	44(61.97)	10(27.03)	0.001
消化系统症状[例(%)]		77(71.3)	61(85.92)	26(70.27)	0.050
?	腹痛	27(25.00)	21(29.58)	6(16.22)	0.130
?	腹泻	60(55.56)	41(57.75)	19(51.35)	0.530
?	便秘	17(15.74)	12(16.90)	5(13.51)	0.650
?	恶心呕吐	33(30.56)	28(39.44)	5(13.51)	0.006
?	肠道功能紊乱	40(37.04)	32(45.07)	8(21.62)	0.020
心血管系异常表现[例(%)]		72(66.67)	53(74.65)	19(51.35)	0.020
?	心肌肥厚	38(35.19)	30(42.25)	8(21.62)	0.030
?	传导阻滞	4(3.70)	2(2.82)	2(5.41)	0.499
?	心动过速	42(38.89)	29(40.85)	13(35.14)	0.563
?	瓣膜功能不全	16(14.81)	11(15.49)	5(13.51)	0.783
?	高血压	25(23.15)	23(32.39)	2(5.41)	0.002
?	心功能衰竭	11(10.19)	10(14.08)	1(2.70)	0.128
骨骼肌肉系统症状[例(%)]		40(37.04)	29(40.85)	11(29.73)	0.260
?	骨质疏松	40(37.04)	29(40.85)	11(29.73)	0.260
呼吸系统异常表现[例(%)]		23(21.3)	21(29.58)	2(5.41)	0.004
?	慢性阻塞性肺病	5(4.63)	5(7.04)	0(0)	0.240
?	慢性支气管炎	18(16.67)	16(22.54)	2(5.41)	0.020

指标		有心血管损害(n＝72)	无心血管损害(n＝36)	P值
年龄(岁)		35.03±11.29	25.5±5.88	<0.001
初发年龄(岁)		9.50 (8.00，11.00)	10.00(8.25，14.00)	0.058
确诊年龄(岁)		32.00(25.00，38.50)	22.00 (15.00，27.75)	<0.001
病程(年)		23.50(11.00，29.75)	7.00(3.00，8.00)	<0.001
神经精神症状[例(%)]		72(100)	36(100)	－
?	疲劳	71(98.61)	36(100)	1.000
?	疼痛	61(84.72)	29(80.56)	0.584
?	注意力下降	45(62.50)	15(41.67)	0.040
?	头晕晕厥	41(56.94)	14(38.89)	0.077
?	抑郁和(或)焦虑	37(51.34)	6(16.67)	0.001
?	脑梗死	5(6.94)	1(2.78)	0.656
?	脑出血	3(4.17)	1(2.78)	1.000
眼部症状[例(%)]		61(84.72)	24(66.67)	0.031
?	视力下降	37(51.34)	17(47.22)	0.683
?	角膜涡状浑浊	27(37.50)	5(13.89)	0.011
?	晶状体后囊浑浊	22(30.56)	2(5.56)	0.003
?	视网膜血管迂曲	20(27.78)	3(8.33)	0.020
?	结膜血管迂曲	18(25.00)	0	0.001
皮肤异常表现[例(%)]		56(77.78)	28(77.78)	1.000
?	无汗或少汗	50(69.44)	26(72.22)	0.766
?	血管角质瘤	42(58.33)	17(47.22)	0.274
耳部异常表现[例(%)]		59(81.94)	20(55.56)	0.004
?	耳鸣	42(58.33)	12(33.33)	0.014
?	听力下降	40(55.56)	12(33.33)	0.029
?	感音神经性耳聋	11(15.27)	2(5.56)	0.250
消化系统症状[例(%)]		61(84.72)	26(72.22)	0.122
?	腹泻	42(58.33)	18(50.00)	0.411
?	肠道功能紊乱	31(43.06)	9(25.00)	0.067
?	恶心呕吐	27(37.50)	6(16.67)	0.027
?	腹痛	20(27.78)	7(19.44)	0.346
?	便秘	11(15.27)	6(16.67)	0.852
泌尿系统异常表现[例(%)]		53(73.61)	18(50.00)	0.015
?	蛋白尿	44(61.11)	16(44.44)	0.100
?	慢性肾功能不全	30(41.67)	3(8.33)	<0.001
?	透析	11(15.27)	2(5.56)	0.250
?	血尿	7(9.72)	2(5.56)	0.712
?	肾小管疾病	2(2.78)	0	0.801
骨骼肌肉系统症状[例(%)]		31(43.06)	9(25.00)	0.067
?	骨质疏松	31(43.06)	9(25.00)	0.067
呼吸系统异常表现[例(%)]		21(44.44)	2(11.11)	0.004
?	慢性支气管炎	16(22.22)	2(5.56)	0.028
?	慢性阻塞性肺病	5(6.94)	0	0.257

指标		有心血管损害(n＝72)	无心血管损害(n＝36)	P值
年龄(岁)		35.03±11.29	25.5±5.88	<0.001
初发年龄(岁)		9.50 (8.00，11.00)	10.00(8.25，14.00)	0.058
确诊年龄(岁)		32.00(25.00，38.50)	22.00 (15.00，27.75)	<0.001
病程(年)		23.50(11.00，29.75)	7.00(3.00，8.00)	<0.001
神经精神症状[例(%)]		72(100)	36(100)	－
?	疲劳	71(98.61)	36(100)	1.000
?	疼痛	61(84.72)	29(80.56)	0.584
?	注意力下降	45(62.50)	15(41.67)	0.040
?	头晕晕厥	41(56.94)	14(38.89)	0.077
?	抑郁和(或)焦虑	37(51.34)	6(16.67)	0.001
?	脑梗死	5(6.94)	1(2.78)	0.656
?	脑出血	3(4.17)	1(2.78)	1.000
眼部症状[例(%)]		61(84.72)	24(66.67)	0.031
?	视力下降	37(51.34)	17(47.22)	0.683
?	角膜涡状浑浊	27(37.50)	5(13.89)	0.011
?	晶状体后囊浑浊	22(30.56)	2(5.56)	0.003
?	视网膜血管迂曲	20(27.78)	3(8.33)	0.020
?	结膜血管迂曲	18(25.00)	0	0.001
皮肤异常表现[例(%)]		56(77.78)	28(77.78)	1.000
?	无汗或少汗	50(69.44)	26(72.22)	0.766
?	血管角质瘤	42(58.33)	17(47.22)	0.274
耳部异常表现[例(%)]		59(81.94)	20(55.56)	0.004
?	耳鸣	42(58.33)	12(33.33)	0.014
?	听力下降	40(55.56)	12(33.33)	0.029
?	感音神经性耳聋	11(15.27)	2(5.56)	0.250
消化系统症状[例(%)]		61(84.72)	26(72.22)	0.122
?	腹泻	42(58.33)	18(50.00)	0.411
?	肠道功能紊乱	31(43.06)	9(25.00)	0.067
?	恶心呕吐	27(37.50)	6(16.67)	0.027
?	腹痛	20(27.78)	7(19.44)	0.346
?	便秘	11(15.27)	6(16.67)	0.852
泌尿系统异常表现[例(%)]		53(73.61)	18(50.00)	0.015
?	蛋白尿	44(61.11)	16(44.44)	0.100
?	慢性肾功能不全	30(41.67)	3(8.33)	<0.001
?	透析	11(15.27)	2(5.56)	0.250
?	血尿	7(9.72)	2(5.56)	0.712
?	肾小管疾病	2(2.78)	0	0.801
骨骼肌肉系统症状[例(%)]		31(43.06)	9(25.00)	0.067
?	骨质疏松	31(43.06)	9(25.00)	0.067
呼吸系统异常表现[例(%)]		21(44.44)	2(11.11)	0.004
?	慢性支气管炎	16(22.22)	2(5.56)	0.028
?	慢性阻塞性肺病	5(6.94)	0	0.257

指标		有心肾联合损害(n＝53)	单有心或肾损害(n＝37)	无心肾损害(n＝18)	P值
年龄(岁)		34.23±8.84	32.38±13.66	23.78±10.06	0.003
确诊年龄(岁)		31.00(25.00，37.00)	28.00(17.50，37.00)	20.00(14.00，24.00)	<0.001
病程(年)		23.00(11.50，29.00)	17.00(7.00，25.50)	9.00(4.50，18.00)	0.008
初发年龄(岁)		10.00(8.00，11.00)	10.00(7.00，14.50)	10.00(8.00，13.25)	0.610
神经系统[例(%)]		53(100)	37(100)	18(100)	－
?	疲劳	53(100)	36(97.30)	18(100)	0.509
?	疼痛	47(88.68)	28(75.68)	15(83.33)	0.265
?	注意力下降	35(66.04)	17(45.95)	8(44.44)	0.100
?	头晕晕厥	33(62.26)	15(40.54)	7(38.89)	0.700
?	抑郁和(或)焦虑	31(58.49)	8(21.62)	4(22.22)	0.001
?	脑梗死	3(5.66)	3(8.11)	0	0.290
?	脑出血	2(3.77)	2(5.41)	0	0.450
眼部[例(%)]		48(90.57)	26(70.27)	11(61.11)	0.009
?	视力下降	32(60.34)	14(37.84)	8(44.44)	0.096
?	角膜涡状浑浊	20(37.73)	10(27.03)	2(11.11)	0.104
?	晶状体后囊浑浊	18(33.96)	5(13.51)	1(5.56)	0.013
?	视网膜血管迂曲	14(26.42)	8(21.62)	1(5.56)	0.174
?	结膜血管迂曲	12(22.64)	6(16.22)	0	0.083
皮肤[例(%)]		45(84.91)	25(67.57)	14(77.78)	0.150
?	无汗或少汗	40(75.47)	23(62.16)	13(72.22)	0.440
?	血管角质瘤	35(66.04)	17(45.95)	7(38.89)	0.059
耳部[例(%)]		49(92.45)	23(62.16)	7(38.89)	0.001
?	听力下降	38(71.70)	10(27.03)	4(22.22)	0.001
?	耳鸣	35(66.04)	16(43.24)	3(16.67)	0.001
?	感音神经性耳聋	10(18.87)	3(8.11)	0	0.027
消化系统[例(%)]		47(88.68)	28(75.68)	12(66.67)	0.082
?	腹泻	33(62.26)	17(45.95)	10(55.56)	0.338
?	腹痛	18(33.96)	5(13.51)	4(22.22)	0.084
?	肠道功能紊乱	27(50.94)	9(24.32)	4(22.22)	0.012
?	便秘	10(18.87)	3(8.11)	4(22.22)	0.274
?	恶心呕吐	24(45.28)	7(18.92)	2(11.11)	0.004
骨骼肌肉系统[例(%)]		25(47.17)	10(27.03)	5(27.78)	0.102
?	骨质疏松	25(47.17)	10(27.03)	5(27.78)	0.102
呼吸系统[例(%)]		9(16.98)	4(19.81)	0	0.001
?	慢性阻塞性肺病	85(9.43)	0	0	0.083
?	慢性支气管炎	14(26.42)	4(10.81)	0	0.017

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