Lowe综合征合并青光眼1例

doi:10.6040/j.issn.1673-3770.0.2022.044

摘要/Abstract

摘要： Lowe综合征为罕见的X连锁隐形遗传病,诊断主要依赖于临床表现及基因检测。本例患儿于白内障术后随访发现眼压升高,进而诊断为双眼青光眼并进行了手术治疗,提示Lowe综合征患者各种临床表现可随成长逐渐显露,需长期随访,密切关注,及时干预。本例患儿发生了OCRL第22号外显子移码突变,该突变位点目前国内尚无文献报道,进一步丰富Lowe综合征的基因谱。

关键词: Lowe综合征, 眼-脑-肾综合征, OCRL基因, 青光眼, 先天性白内障

Abstract: Lowe syndrome is a rare X-linked disease. The diagnosis mainly depends on clinical manifestations and gene sequencing. We present a male patient with Lowe syndrome with glaucoma, which was diagnosed after cataract surgery. The patient also underwent surgical treatment for the glaucoma. It is suggested that patients with Lowe syndrome need long-term follow-up. To the best of our knowledge, this frameshift mutation has not yet been reported in domestic literature. Our findings expand the phenotypic and genotypic spectrum of Lowe syndrome.

Key words: Lowe syndrome, Oculocerebrorenal syndrome, OCRL gene, Glaucoma, Congenital cataracts

中图分类号:

R775.3

张懿,唐莉. Lowe综合征合并青光眼1例[J]. 山东大学耳鼻喉眼学报, 2023, 37(3): 93-97.

ZHANG Yi, TANG Li. Oculocerebrorenal syndrome of lowe with glaucoma: a case report[J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2023, 37(3): 93-97.

参考文献

[1] Lowe CU, Terrey M, MacLachlan EA. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity[J]. AMA Am J Dis Child, 1952, 83(2): 164-184. doi:10.1001/archpedi.1952.02040060030004
[2] 高珊,李晶晶,林俊.儿童Lowe综合征2例报告[J].四川大学学报(医学版),2019,50(1):144. doi:10.13464/j.scuxbyxb.2019.01.035
[3] 张晓滢,孙良忠,刘婷,等. 六个Lowe综合征家系七例患儿的临床特征与OCRL1基因突变[J].中华肾脏病杂志, 2020, 36(5):372-378. doi:10.3760/cma.j.cn441217-20191115-00071 ZHANG Xiaoying, SUN Liangzhong, LIU Ting, et al. Clinical features of Lowe syndrome and OCRL1 mutations in seven cases from six families[J]. Chin J Nephrol, 2020, 36(5): 372-378. doi:10.3760/cma.j.cn441217-20191115-00071
[4] Lin T, Orrison BM, Leahey AM, et al. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome[J]. Am J Hum Genet, 1997, 60(6): 1384-1388. doi:10.1086/515471
[5] 张永玲, 李茹, 景象一, 等. 一例Lowe综合征患儿的临床及分子遗传学诊断[J]. 中华医学遗传学杂志, 2019, 36(6): 613-615. doi:10.3760/cma.j.issn.1003-9406.2019.06.021 ZHANG Yongling, LI Ru, JING Xiangyi, et al. Clinical and molecular genetic analysis of a pediatric patient with Lowe syndrome[J]. Chinese Journal of Medical Genetics, 2019, 36(6): 613-615. doi:10.3760/cma.j.issn.1003-9406.2019.06.021
[6] 白周现, 刘莉娜, 胡爽, 等. 一例OCRL基因外显子重复变异所致的眼脑肾综合征患儿的临床及遗传学分析[J]. 中华医学遗传学杂志, 2020, 37(1): 28-32. doi:10.3760/cma.j.issn.1003-9406.2020.01.008 BAI Zhouxian, LIU Lina, HU Shuang, et al. Clinical and genetic analysis of an infant with Lowe syndrome caused by exonic duplication of OCRL gene[J]. Chinese Journal of Medical Genetics, 2020, 37(1): 28-32. doi:10.3760/cma.j.issn.1003-9406.2020.01.008
[7] Tatsi P, Papanikolaou GE, Chartomatsidou T, et al. Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature[J]. J Med Case Rep, 2019, 13(1): 325. doi:10.1186/s13256-019-2263-9
[8] Zhou FQ, Wang QW, Liu ZZ, et al. Novel mutation in OCRL leading to a severe form of Lowe syndrome[J]. Int J Ophthalmol, 2019, 12(7): 1057-1060. doi:10.18240/ijo.2019.07.01
[9] Bökenkamp A, Ludwig M. The oculocerebrorenal syndrome of Lowe: an update[J]. Pediatr Nephrol, 2016, 31(12): 2201-2212. doi:10.1007/s00467-016-3343-3
[10] Sun J, Zhou Z, Weng C, et al. Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome[J]. Clin Exp Nephrol, 2020, 24(8): 657-665. doi:10.1007/s10157-020-01897-6
[11] Ramadesikan S, Skiba L, Lee J, et al. Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes[J]. Hum Mol Genet, 2021, 30(3/4): 198-212. doi:10.1093/hmg/ddab025
[12] Ramos AR, Ghosh S, Erneux C. The impact of phosphoinositide 5-phosphatases on phosphoinositides in cell function and human disease[J]. J Lipid Res, 2019, 60(2): 276-286. doi:10.1194/jlr.r087908
[13] Madhivanan K, Ramadesikan S, Hsieh WC, et al. Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins[J]. Hum Mol Genet, 2020, 29(10): 1700-1715. doi:10.1093/hmg/ddaa086
[14] Dumic KK, Anticevic D, Petrinovic-Doresic J, et al. Lowe syndrome-Old and new evidence of secondary mitochondrial dysfunction[J]. Eur J Med Genet, 2020, 63(10): 104022. doi:10.1016/j.ejmg.2020.104022
[15] Mehta ZB, Pietka G, Lowe M. The cellular and physiological functions of the Lowe syndrome protein OCRL1[J]. Traffic, 2014, 15(5): 471-487. doi:10.1111/tra.12160
[16] Daskalakis G, Anastasakis E, Lyberopoulos E, et al. Prenatal detection of congenital cataract in a fetus with Lowe syndrome[J]. J Obstet Gynaecol, 2010, 30(4): 409-410. doi:10.3109/01443611003698695
[17] 谭健文, 赖一凡. Lowe综合征的眼部表现及其诊治[J]. 国际眼科纵览, 2014, 38(5): 330-333. doi:10.3760/cma.j.issn.1673-5803.2014.05.009 TAN Jianwen, LAI Yifan. Ocular manifestation and treatment in Lowe syndrome[J]. International Review of Ophthalmology, 2014, 38(5): 330-333. doi:10.3760/cma.j.issn.1673-5803.2014.05.009
[18] 周新龙, 王清明, 邹姒妮, 等. 一个眼-脑-肾综合征家系的 OCRL基因变异研究[J]. 中华医学遗传学杂志, 2022, 39(1): 56-59. doi:10.3760/cma.j.cn511374-20200617-00448 ZHOU Xinlong, WANG Qingming, ZOU Sini, et al. Analysis of OCRL gene variant in a Chinese pedigree affected with Lowe syndrome[J]. Chinese Journal of Medical Genetics, 2022, 39(1): 56-59. doi:10.3760/cma.j.cn511374-20200617-00448
[19] Ma X, Ning K, Jabbehdari S, et al. Oculocerebrorenal syndrome of Lowe: survey of ophthalmic presentations and management[J]. Eur J Ophthalmol, 2020, 30(5): 966-973. doi:10.1177/1120672120920544
[20] Walton DS, Katsavounidou G, Lowe CU. Glaucoma with the oculocerebrorenal syndrome of lowe[J]. J Glaucoma, 2005, 14(3): 181-185. doi:10.1097/01.ijg.0000158850.07732.05
[21] 张辉, 谢立信. 婴幼儿先天性白内障术后继发性青光眼的临床分析[J]. 中华眼科杂志, 2013, 49(2): 134-138. doi:10.3760/cma.j.issn.0412-4081.2013.02.009 ZHANG Hui, XIE Lixin. Clinical analysis of the occurrence of secondary glaucoma after pediatric congenital cataract surgery in the first 36 months of life[J]. Chinese Journal of Ophthalmology, 2013, 49(2): 134-138. doi:10.3760/cma.j.issn.0412-4081.2013.02.009
[22] 祁锦艳, 肖伟, 王明玥, 等. 婴幼儿先天性白内障吸除术后长期疗效观察[J]. 中华眼科杂志, 2017, 53(4): 266-273. doi:10.3760/cma.j.issn.0412-4081.2017.04.008 QI Jinyan, XIAO Wei, WANG Mingyue, et al. Long-term outcomes after cataract surgery in infants with congenital cataract[J]. Chinese Journal of Ophthalmology, 2017, 53(4): 266-273. doi:10.3760/cma.j.issn.0412-4081.2017.04.008
[23] Kruger SJ, Wilson ME, Hutchinson AK, et al. Cataracts and glaucoma in patients with oculocerebrorenal syndrome[J]. Arch Ophthalmol, 2003, 121(9): 1234-1237. doi: 10.1001/archopht.121.9.1234

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