中国遗传性肌病伴早发呼吸衰竭一例并文献复习

doi:10.3969/j.issn.1672-6731.2023.09.007

摘要/Abstract

摘要：

目的: 回顾分析1例遗传性肌病伴早发呼吸衰竭患者症状与体征、组织病理学及基因型特征。方法与结果: 患者为26岁女性，以双上肢近远端、双下肢远端肌无力伴肌肉疼痛症状发病，伴典型日间及夜间呼吸衰竭症状；血清肌酸激酶（258 U/L）、肌酸激酶同工酶（17.80 ng/ml）水平升高；肌电图呈肌源性损害；大腿肌肉MRI显示半腱肌受累；骨骼肌组织活检呈“项链”样排列于肌膜下的胞质体形成；基因检测存在TTN基因c.90211T > C（p.Cys30071Arg）突变，确诊为遗传性肌病伴早发呼吸衰竭。结论: 对于存在不明原因呼吸衰竭，尤其伴肌无力症状的患者，需考虑遗传性肌病伴早发呼吸衰竭可能；通过骨骼肌组织活检和基因检测确诊。

关键词: 肌疾病, 遗传性疾病, 先天性, 呼吸功能不全, 肌联蛋白, 病理学, 中国

Abstract:

Objective: To retrospectively analyze the clinical sign and symptom, pathological and genetic characteristics of a case of hereditary myopathy with early respiratory failure (HMERF). Methods and Results: A 26 - year - old female patient presented with muscle weakness (including the proximal and distal arms and lower legs) and myalgia, typical daytime and nighttime respiratory failure symptoms. The serum creatine kinase (CK, 258 U/L) and creatine kinase isoenzyme (CK - MB, 17.80 ng/ml) levels were increased. The EMG showed myogenic changes, and thigh muscle MRI showed selective semitendinous muscle involvement. The skeletal muscle biopsy showed the formation of cytoplasm arranged in the submuscular membrane like a "necklace". Gene test revealed a mutation of TTN gene with c.90211T > C (p. Cys30071Arg). The final diagnosis was HMERF. Conclusions: The possibility of HMERF should be considered in patients with unexplained respiratory failure, especially with muscle weakness. Skeletal muscle biopsy and genetic test can make a definitive diagnosis.

Key words: Muscular diseases, Genetic diseases, inborn, Respiratory insufficiency, Connectin, Pathology, China

李颖, 漆学良, 张巍, 冯立群, 刘广志, 袁云. 中国遗传性肌病伴早发呼吸衰竭一例并文献复习[J]. 中国现代神经疾病杂志, 2023, 23(9): 813-820.

Ying LI, Xue-liang QI, Wei ZHANG, Li-qun FENG, Guang-zhi LIU, Yun YUAN. Hereditary myopathy with early respiratory failure in China: one case report and literatures review[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2023, 23(9): 813-820.

https://journal11.magtechjournal.com/cjcnn/CN/Y2023/V23/I9/813

图/表 5

图 1 双下肢腓肠肌轻度肥大

Figure 1 Mild hypertrophy of the gastrocnemius muscles of both lower limbs.

图 2 双侧大腿肌肉MRI检查所见 2a 横断面T₁WI显示半腱肌、股四头肌呈脂肪化，提示选择性半腱肌（粗箭头所示）和股四头肌（细箭头所示）萎缩 2b 横断面抑脂T₂WI显示双侧大腿肌肉未见异常高信号

Figure 2 Bilateral thigh muscle MRI findings Axial T₁WI showed fatty infiltration in the semitendinosus and quadriceps femoris, indicating selective semitendinosus atrophy(thick arrows indicate)and quadriceps atrophy(thin arrows indicate, Panel 2a). Axial fat suppression T₂WI showed no abnormally hyperintensity in both thigh muscles (Panel 2b).

图 3 骨骼肌组织病理学检查所见 3a 光学显微镜下可见肌膜下嗜酸性胞质体形成（箭头所示） HE染色 ×400 3b 光学显微镜下可见肌膜下“项链”样胞质体形成（箭头所示） MGT染色 ×400 3c 光学显微镜下可见肌纤维膜下“项链”样胞质体形成（箭头所示） NADH染色 ×400 3d 光学显微镜下可见肌纤维呈片状酶活性缺乏 SDH染色 ×100 3e 光学显微镜下胞质体内可见dystrophin-C阳性蛋白沉积（箭头所示） dystrophin-C染色 ×200 3f 透射电子显微镜下可见包涵体沉积（箭头所示）枸橼酸铅与醋酸铀双重染色 ×25 000

Figure 3 Skeletal muscle pathology findings The formation of eosinophilic cytoplasm was observed under muscle fiber membrane by light microscopy(arrow indicates, Panel 3a). HE staining ×400 The formation of "necklace" like cytoplasm was observed under muscle fiber membrane by light microscopy(arrow indicates, Panel 3b). MGT staining ×400 The formation of "necklace" like cytoplasm was observed under muscle fiber membrane by light microscopy(arrow indicates, Panel 3c). NADH staining ×400 The muscle fibers showed a lamellar lack of enzyme activity by light microscopy(Panel 3d). SDH staining ×100 The deposition of dystrophin-C positive protein was observed in the cytoplasm by light microscopy(arrow indicates, Panel 3e). dystrophin-C staining × 200 Inclusion body deposition was observed under transmission electron microscopy(arrow indicates, Panel 3f). Lead citrate and uranyl acetate double staining ×25 000

图 4 基因检测（WES测序） 4a 患者存在TTN基因c.90211T > C（p.Cys30071Arg）突变（箭头所示） 4b，4c 患者父母上述位点无突变（箭头所示）

Figure 4 Gene sequencing findings(WES) The patient had TTN gene c.90211T > C(p.Cys30071Arg)mutation (arrow indicates, Panel 4a). The parents of the patient had no mutation at the above site(arrows indicate; Panel 4b, 4c).

表 1 中国13例患者临床特征

Table 1. The clinical features of 13 Chinese patients

患者	性别	年龄(岁)	发病年龄(岁)	受累肌群					脊柱强直	心脏受累	肺功能	无创呼吸机
患者	性别	年龄(岁)	发病年龄(岁)	部位	颈屈肌	腹肌	翼状肩胛	腓肠肌肥大	脊柱强直	心脏受累	肺功能	无创呼吸机
1^[9]	女性	47	45	四肢远端肌	-	-	-	-	-	-	-	+
2^[10]	男性	23	青春期	四肢近远端肌	3^-级	-	+	+	+	-	FYC19%	+
3^[10]	男性	44	34	下肢远端肌	3^-级	-	-	+	-	-	-	-
4^[4]	男性	-	15	上肢近远端肌和下肢远端肌	-	-	-	-	+	房间隔缺损	-	-
5^[4]	男性	-	40	四肢近远端肌	-	-	-	-	-	左心房扩大	-	+
6^[11]	男性	18	14	四肢近远端肌	+	-	-	-	+	-	-	+
7^[11]	女性	64	54	上肢近端肌、下肢近远端肌	-	-	-	-	-	-	-	-
8^[11]	男性	61	47	四肢近远端肌	+	-	-	+	-	-	+	+
9^[11]	男性	19	18	四肢近端肌	+	-	-	-	-	-	+	+
10^[11]	男性	27	26	肌力正常	-	-	-	-	-	-	-	-
11^[11]	男性	52	50	肌力正常	-	-	-	-	-	-	-	-
12^[11]	男性	41	35	下肢近远端肌	-	-	-	-	-	-	-	-
13*	女性	26	26	四肢近远端肌	-	+	+	+	-	可逆性右心房增大	FYC22%	+

患者	性别	发病年龄(岁)	肌酸激酶(U/L)	针极肌电图	MRI		组织病理学				TTN突变位点	氨基酸异常
患者	性别	发病年龄(岁)	肌酸激酶(U/L)	针极肌电图	大腿肌肉	小腿肌肉	“项链”样胞质体		镶边空泡	核内移	TTN突变位点	氨基酸异常
1^[9]	女性	45	342	肌源性	-	+	-		-	+	c.91600T > C	p.Y30534H
2^[10]	男性	青春期	630	肌源性	+	+	-		-	-	c.90272C > T	p.P30091L
3^[10]	男性	34	487	肌源性	+	+	+		+	+	c.90211T > C	p.C30071R
4^[4]	男性	15	341	混合性	-	-	+		+	+	c.95185T > C	p.W31729R
5^[4]	男性	40	302	神经源性	-	-	+		+	+	c.95134T > C	p.C31711R
6^[11]	男性	14	-	-	-	-	+		+	+	c.95358C > G	p.N31786K
7^[11]	女性	54	-	-	-	-	+		+	+	c.95135G > A	p.C31711Y
8^[11]	男性	47	-	-	+	+	+		+	+	c.95195C > T	p.P31732L
9^[11]	男性	18	-	-	+	+	+		+	+	c.95358C > A	p.N31786K
10^[11]	男性	26	+	-	+	+	+		+	+	c.95195C > T	p.P31732L
11^[11]	男性	50	-	-	+	-	+		+	+	c.95195C > T	p.P31732L
12^[11]	男性	35	-	-	-	-	+		-	+	c.95134T > C	p.C31712R
13*	女性	26	正常~258	肌源性	+	-	+		+	+	c.90211T > C	p.C30071R

表 1 中国13例患者临床特征

Table 1. The clinical features of 13 Chinese patients

患者	性别	年龄(岁)	发病年龄(岁)	受累肌群					脊柱强直	心脏受累	肺功能	无创呼吸机
患者	性别	年龄(岁)	发病年龄(岁)	部位	颈屈肌	腹肌	翼状肩胛	腓肠肌肥大	脊柱强直	心脏受累	肺功能	无创呼吸机
1^[9]	女性	47	45	四肢远端肌	-	-	-	-	-	-	-	+
2^[10]	男性	23	青春期	四肢近远端肌	3^-级	-	+	+	+	-	FYC19%	+
3^[10]	男性	44	34	下肢远端肌	3^-级	-	-	+	-	-	-	-
4^[4]	男性	-	15	上肢近远端肌和下肢远端肌	-	-	-	-	+	房间隔缺损	-	-
5^[4]	男性	-	40	四肢近远端肌	-	-	-	-	-	左心房扩大	-	+
6^[11]	男性	18	14	四肢近远端肌	+	-	-	-	+	-	-	+
7^[11]	女性	64	54	上肢近端肌、下肢近远端肌	-	-	-	-	-	-	-	-
8^[11]	男性	61	47	四肢近远端肌	+	-	-	+	-	-	+	+
9^[11]	男性	19	18	四肢近端肌	+	-	-	-	-	-	+	+
10^[11]	男性	27	26	肌力正常	-	-	-	-	-	-	-	-
11^[11]	男性	52	50	肌力正常	-	-	-	-	-	-	-	-
12^[11]	男性	41	35	下肢近远端肌	-	-	-	-	-	-	-	-
13*	女性	26	26	四肢近远端肌	-	+	+	+	-	可逆性右心房增大	FYC22%	+

患者	性别	发病年龄(岁)	肌酸激酶(U/L)	针极肌电图	MRI		组织病理学				TTN突变位点	氨基酸异常
患者	性别	发病年龄(岁)	肌酸激酶(U/L)	针极肌电图	大腿肌肉	小腿肌肉	“项链”样胞质体		镶边空泡	核内移	TTN突变位点	氨基酸异常
1^[9]	女性	45	342	肌源性	-	+	-		-	+	c.91600T > C	p.Y30534H
2^[10]	男性	青春期	630	肌源性	+	+	-		-	-	c.90272C > T	p.P30091L
3^[10]	男性	34	487	肌源性	+	+	+		+	+	c.90211T > C	p.C30071R
4^[4]	男性	15	341	混合性	-	-	+		+	+	c.95185T > C	p.W31729R
5^[4]	男性	40	302	神经源性	-	-	+		+	+	c.95134T > C	p.C31711R
6^[11]	男性	14	-	-	-	-	+		+	+	c.95358C > G	p.N31786K
7^[11]	女性	54	-	-	-	-	+		+	+	c.95135G > A	p.C31711Y
8^[11]	男性	47	-	-	+	+	+		+	+	c.95195C > T	p.P31732L
9^[11]	男性	18	-	-	+	+	+		+	+	c.95358C > A	p.N31786K
10^[11]	男性	26	+	-	+	+	+		+	+	c.95195C > T	p.P31732L
11^[11]	男性	50	-	-	+	-	+		+	+	c.95195C > T	p.P31732L
12^[11]	男性	35	-	-	-	-	+		-	+	c.95134T > C	p.C31712R
13*	女性	26	正常~258	肌源性	+	-	+		+	+	c.90211T > C	p.C30071R

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Hereditary myopathy with early respiratory failure in China: one case report and literatures review

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