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中华眼科医学杂志(电子版) ›› 2024, Vol. 14 ›› Issue (03) : 160 -166. doi: 10.3877/cma.j.issn.2095-2007.2024.03.006

病例报告

溶质转运体4A4基因突变致近端肾小管酸中毒合并儿童青光眼1例
张莉1,†(), 左晓玲2, 王宁利1   
  1. 1. 100730　首都医科大学附属北京同仁医院北京同仁眼科中心　北京市眼科研究所　眼科学与视觉科学北京市重点实验室
    2. 054099　河北省邢台市中心医院外科
  • 收稿日期:2024-04-03 出版日期:2024-06-28
  • 通信作者: 张莉
  • 基金资助:
    国家自然科学基金重点项目(82130029)

One case of proximal tubular acidosis combined with glaucoma in children caused by solute transporter 4A4 gene mutation

Li Zhang†(), Xiaoling Zuo, Ningli Wang   

  • Received:2024-04-03 Published:2024-06-28
  • Corresponding author: Li Zhang
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张莉, 左晓玲, 王宁利. 溶质转运体4A4基因突变致近端肾小管酸中毒合并儿童青光眼1例[J]. 中华眼科医学杂志(电子版), 2024, 14(03): 160-166.

Li Zhang, Xiaoling Zuo, Ningli Wang. One case of proximal tubular acidosis combined with glaucoma in children caused by solute transporter 4A4 gene mutation[J]. Chinese Journal of Ophthalmologic Medicine(Electronic Edition), 2024, 14(03): 160-166.

患儿，女性，5岁。2019年7月10日因双眼球逐渐变大且视力不佳于首都医科大学附属北京同仁医院眼科就诊。家属主诉患儿于2年前在当地医院眼科会诊时发现双眼不能追光，视力检查无法配合，双眼眼压43 mmHg(1 mmHg＝0.133 kPa)，双眼球增大，大角膜，角膜混浊，前房深，晶体轻度混浊，眼底视盘杯盘比0.8，视乳头苍白。患儿出生后身体发育落后，生长迟缓，语言和智力发育迟缓。患儿3岁时因食欲差和腹泻住院治疗，住院期间发生癫痫，伴高热惊厥，共济失调，肌张力高，颈部僵硬，代谢性脑病发作。现经眼部检查，发现右眼眼压54 mmHg，左眼眼压45 mmHg，视力检查配合不佳，双眼不能追光注视。双眼球扩大，角膜水平直径13 mm，角膜半透明状灰白混浊。见图1A和图1B。前房深，晶状体灰白混浊。眼底照相显示视杯呈同心圆状增大，杯盘比为0.9，视盘盘沿4个象限弥漫性丢失，盘沿变窄，视网膜神经纤维层弥漫性缺损。见图1C和图1D。右眼眼轴26.5 mm，左眼眼轴25.3 mm。患儿身材矮小，身高89 cm，体质量13 kg较轻，身体虚弱，不能单独站立和行走。经血气检查，提示低钾高氯血症，血清碳酸氢盐水平降低和二氧化碳分压水平持续低。血清肌酐水平为71 μmol/L，略高；尿液pH值为5.5。肾功能异常，尿液pH值降低。影像学检查提示肾脏大小正常，心脏卵圆孔未闭，心律失常，二度房室传导阻滞(Ⅰ型)，双侧基底节对称钙化。临床诊断为肾小管性酸中毒(renal tubular acidosis，RTA)，高氯性酸中毒，代谢性脑病，儿童青光眼，先天性白内障，角膜变性。疑似遗传性疾病，故对患儿及其父母进行遗传病外显子组基因测序，结果显示溶质转运体(solute carriers，SLC)4A4基因检测到两个杂合病理性变异。该患儿SLC4A4基因有两个突变。其一，是外显子Exon 1中的c.145C>T，p(Arg49*)，4q13 NM_003759.3，该变异为无义突变，读码框第49位密码子由编码Arg变异为终止信号，引起基因表达产物被截短，目前该变异尚未被人类基因突变数据库收录，其频率为零。该变异分类为病理性变异。为明确c.145C>T(p.Arg49*)变异来源，对患儿及其父母进行Sanger测序，结果显示该突变遗传来自其父亲。其二，是内含子Intron 10中的c.1499＋1G>A，p.未知，4q13 NM_003759.3，该变异发生在关键的剪接信号处，可严重紊乱基因表达产物。经基于密度干扰信息空间聚类生物信息学分析(v11)，结果显示该变异可引起剪接位点改变，目前该变异尚未被人类基因突变数据库收录，其频率为零。该变异分类为病理性变异。Sanger测序表明此突变遗传来自其母亲。此外，SLC4A4基因有两个杂合病理性的变异。SLC4A4基因与伴眼疾的近端RTA(MIM604278)(proximal renal tubular acidosis，pRTA)相关，遗传方式为常染色体隐性遗传。排除先天性青光眼遗传病的诊断。结合患儿临床表现、实验室检查及基因检测结果，修正诊断为遗传性pRTA，伴继发性儿童青光眼、白内障、角膜变性及SLC4A4基因突变型。经专家组讨论，给予患儿苯妥英钠(江苏悦兴药业有限公司生产)，2.5 mg/kg，2次/d；氯噻嗪(山东信谊制药有限公司生产)，口服，1 mg/kg，2次/d；碳酸氢钠(福州海王福药制药有限公司生产)，口服，0.2 g/d，3次/d；枸橼酸钾(陕西恒玖源健康药业有限公司生产)，口服，1 mEq/kg，2次/d，限钙饮食；使用拉坦前列腺素滴眼液(比利时辉瑞制药公司生产)、β受体阻滞剂卡替洛尔滴眼液(中国大冢制药有限公司生产)及碳酸酐酶抑制剂布林佐胺滴眼液(美国爱尔康医药公司生产)的局部降眼压药物治疗，乙酰唑胺(上海信谊药厂有限公司生产)使用3 d；患儿时有癫痫发作，家属拒绝手术治疗，坚持药物控制眼压。患儿于2022年9月25日复查，右眼眼压18 mmHg，左眼眼压20 mmHg，眼底照相显示双眼视盘盘沿上下方及鼻颞侧略呈同心圆样扩大。见图1E和图1F。

图1 遗传性近端肾小管酸中毒患儿于初次就诊和1年后复查时的眼部表现　图A和图B分别示裂隙灯显微镜下右眼和左眼眼前节彩色照相(×10)，可见角膜半透明状灰白混浊，晶状体混浊；图C和图D分别示初次就诊时右眼左眼眼底照相(×10)，可见眼底因角膜和晶状体混浊而略显模糊，视盘色苍白，盘沿弥漫性变窄，视网膜神经纤维层弥漫性缺损；图E和图F分别示1年后随诊时右眼左眼眼底照相，与初诊时比双眼视盘盘沿上下方及鼻颞侧略呈同心圆样扩大
表1 青光眼合并非获得性全身疾病或综合征的临床特征汇总表
综合征 临床特征 基因
Nail－patella综合征* 指甲发育不良，髌骨缺如或发育不良，肾脏异常和青光眼。Lester征，中央虹膜旁三叶草样黑色素沉着 LMX1B(LIM－homeodomain transcription factor)
神经纤维瘤病Ⅰ型* 神经鞘肿瘤，Lisch结节，眼睑丛状神经纤维瘤，蝶骨嵴发育不良，视神经胶质瘤，青光眼 NF1 (neurofibromin)
近端肾小管酸中毒伴眼部异常，智力低下# 近端肾小管酸中毒，生长迟缓，智力低下，眼球震颤，白内障，角膜混浊，青光眼 SLC4A4(solute carriers 4A4)
Marfan综合征* 体型瘦高，指趾细长，前胸异常，晶状体脱位，青光眼，主动脉根部扩张 FBN1(fibrillin－1)
眼齿指发育不良* 典型面容，牙齿、指及眼部受累，小眼球，小角膜，青光眼 connexin－43
Frank－terHaar综合征# 短头，宽囟，前额突出，两眼间距过远，突眼，大角膜，青光眼 TKS4 (tyrosine kinase substrate with four Src homology 3 domains)
Rubinstein－Taybi综合征# 智力发育迟缓，生长迟缓，小头畸形，拇指宽大，面部外观异常，屈光不正，斜视，青光眼，白内障 CREBBP(cAMP－response element binding protein－BP)
Ehlers－Danlos Ⅳ型 出生时肌张力严重减退，全身关节松弛，脊柱侧凸，巩膜脆性增加，青光眼 PLOD1( procollagen－lysine，2－oxoglutarate 5－dioxygenase 1)
Peters plus综合征# 智力发育迟缓，生长迟缓，身材矮小，耳异常，Peters异常，青光眼 B3GALTL(beta－1，3－galactosyltransferase－like glycosyltransferase)
Zellveger(过氧化物酶体生物合成障碍1a)# 神经系统严重功能障碍，颅面异常，肝功能异常，过氧化物酶体功能障碍，角膜混浊，白内障，视网膜色素紊乱，青光眼，眼球震颤 Peroxin
Klippel－Trenaunay－Weber综合征 大面积皮肤血管瘤，骨与软组织肥大，类似Sturge－Weber临床表现，青光眼 尚无定论
Charcot－Marie－Tooth病4B2型# 运动和感觉神经遗传性脱髓鞘疾病，髓鞘异常折叠 SBF2 (SET－Binding Factor 2)
Walker Warburg综合征# 先天性肌营养不良，脑部和眼部异常，青光眼 POMT1 (protein O－mannosyltransferase 1)和ISPD ( isoprenoid synthase domain－containing )
小眼球－皮肤发育不良－巩膜化角膜综合征& 单侧或双侧小眼球，头颈部线状皮肤缺损，青光眼 HCCS (holocytochrome c－type synthetase)
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