山东大学耳鼻喉眼学报 ›› 2023, Vol. 37 ›› Issue (4): 196-200.doi: 10.6040/j.issn.1673-3770.0.2022.195
• 病例报告 • 上一篇
冯仕君1,王琪2,赵博军2
FENG Shijun1, WANG Qi2, ZHAO Bojun2
中图分类号:
[1] Penna S, Villa A, Capo V. Autosomal recessive osteopetrosis: mechanisms and treatments[J]. Dis Model Mech, 2021, 14(5): dmm048940. doi:10.1242/dmm.048940 [2] 田园, 季卫锋, 朱周玮, 等. 石骨症发病机制及相关基因研究进展[J]. 中国中医骨伤科杂志, 2021, 29(6): 85-88. [3] Wu CC, Econs MJ, DiMeglio LA, et al. Diagnosis and management of osteopetrosis: consensus guidelines from the osteopetrosis working group[J]. J Clin Endocrinol Metab, 2017, 102(9): 3111-3123. doi:10.1210/jc.2017-01127 [4] 周卫军, 唐尚坤, 沈晔, 等. SNX10在石骨症中的分子机制研究进展[J]. 生物骨科材料与临床研究, 2021, 18(3): 72-77. doi:10.3969/j.issn.1672-5972.2021.03.014 ZHOU Weijun, TANG Shangkun, SHEN Ye, et al. Advances in molecular mechanism of SNX10 in osteopetrosis[J]. Orthopaedic Biomechanics Materials and Clinical Study, 2021, 18(3): 72-77.doi:10.3969/j.issn.1672-5972.2021.03.014 [5] 赵万民, 段小红. 骨硬化症患者CLCN7基因突变的生物信息学分析[J]. 口腔生物医学, 2017, 8(1): 1-6. doi:10.3969/j.issn.1674-8603.2017.01.001 ZHAO Wanmin, DUAN Xiaohong. The bioinformatic analysis of two mutations in human CLCN7 gene of osteopetrosis patients[J]. Oral Biomedicine, 2017, 8(1): 1-6. doi:10.3969/j.issn.1674-8603.2017.01.001 [6] Chorin O, Chowers G, Agbariah R, et al. Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity[J]. Eur J Med Genet, 2022, 65(1): 104383. doi:10.1016/j.ejmg.2021.104383 [7] Yang YJ, Ye WH, Guo JH, et al. CLCN7 and TCIRG1 mutations in a single family: evidence for digenic inheritance of osteopetrosis[J]. Mol Med Rep, 2019, 19(1): 595-600. doi:10.3892/mmr.2018.9648 [8] Li L, Lv SS, Wang C, et al. Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis[J]. Mol Med Rep, 2019, 19(6): 5030-5038. doi:10.3892/mmr.2019.10123 [9] Stattin EL, Henning P, Klar J, et al. SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts[J]. Sci Rep, 2017, 7(1): 3012. doi:10.1038/s41598-017-02533-2 [10] Pang Q, Chi Y, Zhao Z, et al. Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II(ADO-II)and intermediate autosomal recessive osteopetrosis(IARO)in Chinese patients[J]. Osteoporos Int, 2016, 27(3): 1047-1055. doi:10.1007/s00198-015-3320-x [11] Ly KI, Blakeley JO. The diagnosis and management of neurofibromatosis type 1[J]. Med Clin North Am, 2019, 103(6): 1035-1054. doi:10.1016/j.mcna.2019.07.004 [12] Farschtschi S, Mautner VF, McLean ACL, et al. The neurofibromatoses[J]. Dtsch Arztebl Int, 2020, 117(20): 354-360. doi:10.3238/arztebl.2020.0354 [13] Riccardi C, Perrone L, Napolitano F, et al. Understanding the biological activities of vitamin D in type 1 neurofibromatosis: new insights into disease pathogenesis and therapeutic design[J]. Cancers(Basel), 2020, 12(10): E2965. doi:10.3390/cancers12102965 [14] Ferrara UP, Tortora C, Rosano C, et al. Bone metabolism in patients with type 1 neurofibromatosis: key role of Sun exposure and physical activity[J]. Sci Rep, 2022, 12(1): 4368. doi:10.1038/s41598-022-07855-4 [15] Jha S, Chapman M, Roszko K. When low bone mineral density and fractures is not osteoporosis[J]. Curr Osteoporos Rep, 2019, 17(5): 324-332. doi:10.1007/s11914-019-00529-7 [16] Kaspiris A, Savvidou OD, Vasiliadis ES, et al. Current aspects on the pathophysiology of bone metabolic defects during progression of scoliosis in neurofibromatosis type 1[J]. J Clin Med, 2022, 11(2): 444. doi:10.3390/jcm11020444 [17] 李玲婧, 罗燕. 首诊眼科石骨症1例[J]. 中国中医眼科杂志, 2020, 30(3): 217-218, 226. doi:10.13444/j.cnki.zgzyykzz.2020.03.017 [18] Sobacchi C, Schulz A, Coxon FP, et al. Osteopetrosis: genetics, treatment and new insights into osteoclast function[J]. Nat Rev Endocrinol, 2013,9(9):522-536. doi: 10.1038/nrendo.2013.137 [19] 曹文红, 于刚, 吴倩, 等. 儿童石骨症骨髓移植前后的视功能观察[J]. 中国斜视与小儿眼科杂志, 2011, 19(4): 168-171. doi:10.3969/j.issn.1005-328X.2011.04.008 CAO Wenhong, YU Gang, WU Qian, et al. Chinese Journal of Strabismus & Pediatric Ophthalmology[J]. Chinese Journal of Strabismus & Pediatric Ophthalmology, 2011, 19(4): 168-171. doi:10.3969/j.issn.1005-328X.2011.04.008 [20] Essabar L, Meskini T, Ettair S, et al. Malignant infantile osteopetrosis: case report with review of literature[J]. Pan Afr Med J, 2014, 17: 63. doi:10.11604/pamj.2014.17.63.3759 [21] 孙婉钰, 龙思羽, 张春柱, 等. 针刺治疗儿童石骨症合并视神经萎缩的疗效观察[J]. 中国中医眼科杂志, 2021, 31(6): 416-419, 424. doi:10.13444/j.cnki.zgzyykzz.2021.06.007 SUN Wanyu, LONG Siyu, ZHANG Chunzhu, et al. Therapeutic effect of acupuncture on children with osteopetrosis and optic neuropathy[J]. China Journal of Chinese Ophthalmology, 2021, 31(6): 416-419, 424. doi:10.13444/j.cnki.zgzyykzz.2021.06.007 [22] Maurizi A, Capulli M, Curle A, et al. Extra-skeletal manifestations in mice affected by Clcn7-dependent autosomal dominant osteopetrosis type 2 clinical and therapeutic implications[J]. Bone Res, 2019, 7: 17. doi:10.1038/s41413-019-0055-x [23] 朱光华, 秦茂权, 王彬, 等. 异基因造血干细胞移植治疗婴儿恶性石骨症[J]. 中华儿科杂志, 2012, 50(11): 807-812. doi:10.3760/cma.j.issn.0578-1310.2012.11.002 ZHU Guanghua, QIN Maoquan, WANG Bin, et al. Allogeneic stem cell transplantation for 8 patients with malignant infantile osteopetrosis in China[J]. Chinese Journal of Pediatrics, 2012, 50(11): 807-812. doi:10.3760/cma.j.issn.0578-1310.2012.11.002 [24] Stepensky P, Grisariu S, Avni B, et al. Stem cell transplantation for osteopetrosis in patients beyond the age of 5 years[J]. Blood Adv, 2019, 3(6): 862-868. doi:10.1182/bloodadvances.2018025890 [25] Schmidt GS, Schacht JP, Knee TS, et al. Pyknodysostosis(osteopetrosis acro-osteolytica)[J]. AACE Clin Case Rep, 2020, 6(5): e257-e261. doi:10.4158/ACCR-2020-0169 [26] Jacome-Galarza CE, Percin GI, Muller JT, et al. Developmental origin, functional maintenance and genetic rescue of osteoclasts[J]. Nature, 2019, 568(7753): 541-545. doi:10.1038/s41586-019-1105-7 [27] 李玲玲, 姜彦, 陈敏, 等. 鼻中隔神经纤维瘤一例报告[J]. 山东大学耳鼻喉眼学报, 2018, 32(6): 112-113. doi:10.6040/j.issn.1673-3770.0.2018.104 LI Lingling, JIANG Yan, CHEN Min, et al. One case report of nasal septum neurofibroma[J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2018, 32(6): 112-113. doi:10.6040/j.issn.1673-3770.0.2018.104 |
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