遗传性血小板功能障碍性疾病的诊治与管理

doi:10.12372/jcp.2022.21e1618

Abstract

Abstract:

Inherited platelet function disorders (IPFDs) is a rare disorder. The clinical manifestations were heterogeneous, mainly characterized by spontaneous cutaneous and mucosal hemorrhage, menorrhagia, difficulty in hemostasis after trauma, with or without thrombocytopenia. Its incidence has been underestimated due to difficulties in clinical diagnosis. Treatment and management of the disease are also challenging. This study summarized the classification, clinical manifestations, diagnosis, treatment and management of IPFDs, to improve the understanding of IPFDs and provide reference for diagnosis, treatment and management of IPFDs for front-line pediatricians.

Key words: inherited platelet function disorders, diagnosis, treatment, management

YANG Xiaoyan, BIAN Qiuhan, TUO Yuanyuan, WANG Dinghuan, HUANG Jing. Inherited platelet function disorders: diagnosis, treatment and management[J].Journal of Clinical Pediatrics, 2022, 40(2): 87-94.

Figures/Tables 2

遗传疾病	基因位点	遗传方式	主要表现
血小板大小正常的遗传性血小板减少症
先天性无巨核细胞性血小板减少症	MPL	AR	非常严重的血小板、巨核细胞减少;儿童期易进展为再生障碍性贫血;有严重出血倾向
THPO相关性血小板减少症	THPO	AD/AR	单等位基因变异表现为轻度血小板减少;双基因变异有严重出血倾向
血小板减少伴尺桡骨发育不良	HOXA11	AD	严重的血小板减少、巨核细胞减少/缺失;儿童易进展为再生障碍性贫血;桡骨和尺骨融合伴/不伴其他骨骼改变;感音性听力丧失;严重出血倾向
易患急性髓细胞白血病的家族性血小板疾病	RUNX1	AD	轻中度血小板减少;血小板颗粒缺乏;年轻时患急性髓母细胞白血病或骨髓增生异常综合征风险高（>40%）; 患淋巴细胞白血病和实体瘤的风险高;无重度出血倾向
ANKRD26相关血小板减少症	ANKRD26	AD	轻中度血小板减少;有些患者血红蛋白和/或白细胞增多;大约10%的患者患有髓系肿瘤;无出血倾向
ETV6相关血小板减少症	ETV6	AD	平均红细胞体积增大;血小板可能出现α颗粒功能异常;出现大量CD34⁺细胞;30%易患获得性淋巴、髓系白细胞和骨髓增生综合征;无出血倾向
KZF5相关血小板减少症	KZF5	AD	轻度至中度血小板减少;血小板的α和δ颗粒较少;无出血倾向
Stormorken综合征	STIM1ORAI1	AD	中度血小板减少;异常血栓形成;无精症、轻度贫血、先天性瞳孔缩小;鱼鳞病、身材矮小、偏头痛和轻度认知障碍;轻度出血倾向
York血小板综合征	STIM1	AD	比Stormorken综合征更罕见;中度至重度血小板减少; 血小板中α和δ颗粒较少;轻度出血倾向
遗传性血小板减少症伴大血小板
Bernard-Soulier综合征	GP1BA、GP1BB、GP9	AR	中度至重度血小板减少和巨血小板;严重出血倾向
血小板型血管性血友病	GP1BA	AD	血小板减少伴低分子量血管性血友病因子多聚体
ITGA2B/ITGB3相关性血小板减少症	ITGA2B、ITGB3	AD	轻度至中度血小板减少;中度出血倾向
迪格奥尔格综合征	TBX1/GP1BB	AD	中度血小板减少;心脏异常、甲状旁腺和胸腺功能不全、认知障碍;轻度至重度出血倾向
MYH9相关血小板减少症	MYH9	AD	听力受损、肾病、肝病、白内障;无出血倾向
DIPAH1相关血小板减少症	DIPAH1	AD	轻度血小板减少（偶尔血小板计数正常）;低至中度感染风险;早期感音性神经性耳聋;无出血倾向
SLFN14相关血小板减少症	SLFN14	AD	轻度至中度血小板减少;δ颗粒分泌缺陷;未成熟血小板数量增加;中重度出血倾向
SRC相关血小板减少症	SRC	AD	轻度至重度血小板减少;血小板颗粒缺陷、骨髓纤维化和早期面部畸形;不成熟巨核细胞数量增多;轻度至重度出血倾向
TPM4相关血小板减少症	TPM4	AD	轻度血小板减少;无出血倾向
Takenouchi-Kosaki综合征伴巨血小板减少	CDC42	AD	中度血小板减少;智力、成长、精神和运动发育缺陷;大脑/面部/肌肉/骨骼异常;免疫缺陷、湿疹、听力/视力障碍、淋巴水肿和心脏或泌尿生殖系统畸形;无出血倾向
GNE相关血小板减少症	GNE	AR	严重血小板减少;一些患者患有孤立性血小板减少症; 轻度至重度出血倾向
ACTB相关血小板减少症	ACTB	AD	轻度至中度血小板减少;白细胞增多伴嗜酸性粒细胞增多、白细胞减少;小头畸形、轻微面部异常、发育迟缓、轻度智力残疾;无出血倾向
遗传性血小板减少症伴小血小板
Wiskott-Aldrich综合征	WAS	XL	严重血小板减少;免疫缺陷、湿疹、淋巴增生和自身免疫性疾病;严重出血倾向
FYB相关血小板减少症	FYB	AR	中度至重度血小板减少;αIIbβ3活化受损;轻度至中度出血倾向
ARCP1B相关血小板减少症	ARCP1B	AR	中度至重度血小板减少;某些情况下血小板计数正常; 嗜酸性粒细胞增多;免疫介导的炎症性疾病,湿疹,肝脾肿大;中度出血倾向
PTPRJ相关血小板减少症	PTPRJ	AR	中度至重度血小板减少;SRC型激酶激活缺陷;巨核细胞成熟缺陷;轻度至中度出血倾向
遗传性血小板颗粒缺陷
灰色血小板综合征	NBEAL2/GFI1B	AR/AD	轻至中度出血倾向;伴有大血小板、α颗粒减少或缺失的中度血小板减少症
Quebec综合征	PLAU	AD	中度血小板减少;血小板形态正常;检测α-颗粒蛋白缺陷;对抗纤溶药物有反应,但对血小板输注无反应
Hermansky-Pudlak综合征	HPS	AR	其特征为眼、皮肤白化病和血小板δ-颗粒缺陷,并伴有血小板功能障碍,导致轻度至中度出血症状。诊断是通过临床发现皮肤、眼睛(有时是头发)色素减退,斜视或眼峡,以及血小板上致密小体缺失而确定
Chediak-Higashi综合征	CHS	AR	眼、皮肤白化病;有免疫缺陷易反复感染以及δ-颗粒缺陷;85%的病例发展为噬血细胞性淋巴组织细胞增多症; 轻度至中度出血倾向。明确诊断是基于CHS的分子遗传学检测
Griscelli综合征	RAB27/MYO5A、 MLPH	AR	正常血小板计数和形态;δ-颗粒缺陷;白化病,神经系统缺陷,NK细胞和T淋巴细胞的细胞毒性功能降低
血小板受体功能障碍
血小板无力症	αIIbβ3	AR	正常血小板计数和形态;所有激动剂（ADP、TxA2、胶原、凝血酶）均缺乏或严重降低;流式细胞术显示αIIbβ3表达缺失或减少：Ⅰ型残余αIIbβ3<5%;II型残余αIIbβ3 5-20%;III型残余αIIbβ3 >20%;严重出血倾向
ADP受体缺乏	P2Y12	AD/AR	正常血小板计数和形态;轻度至中度出血倾向
TXA2受体缺乏	TxA2-R (TPα)	AD/AR	正常血小板计数和形态;花生四烯酸或TxA2类似物缺乏或严重降低LTA;可伴有骨质疏松、复发性胃溃疡,无出血症状或中至重度出血
GPVI胶原受体缺陷	GPVI或GPIa/IIa	AR	正常血小板计数和形态;GPⅥ缺乏症患者全血中胶原粘连减少,LTA胶原反应正常,不伴有出血或有轻至中度皮肤黏膜出血

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治疗措施	临床疗效
局部止血	可以改善鼻出血、外科手术出血、牙龈出血等
去氨加压素	可增加血小板的黏附和聚集,增强血小板促凝活性,缩短出血时间。对于颗粒分泌障碍、信号转导缺陷、MYH9相关血小板减少症等手术或分娩期间出血治疗有效。对于血小板无力症治疗效果欠佳
抗纤溶剂	可改善鼻出血、牙龈出血、月经过多,可预防小手术后出血
重组活化因子Ⅶ	可增加凝血酶的生成、增强血小板的聚集以及血小板与细胞外基质的黏附功能。FDA批准用于治疗出血和血小板无力症的围手术期管理;Bernard-Soulier综合征患者手术期间出血的处理
雌激素	改善月经过多
输注血小板	中小型手术中出血的处理
造血干细胞移植	成功用于血小板无力症及Bernard-Soulier综合征患者
基因治疗	7例Wiskott-Aldrich综合征患者血液和免疫状况得到改善

Inherited platelet function disorders: diagnosis, treatment and management

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