成人型石骨症一例报道并文献复习
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摘要
石骨症是罕见的遗传性疾病,临床表现多样、复杂,特异的影像学表现是其诊断要点。当前已知其病因为破骨细胞数量减少及其功能缺陷,并受多基因调控,应根据其临床症状和体征给予适当的对症治疗。本文报道1例成人型石骨症患者,并结合文献,介绍该病的临床分型、特征性X线表现、发病机制、诊断与鉴别诊断、治疗及预后。
Osteopetrosis is a rare hereditary disease whose clinical manifestations are diverse and complex.Specific imaging findings are the main evidence for diagnosis.The disease is caused by a decrease in the number of osteoclasts and by functional defects in osteoclasts, and it is regulated by multiple genes.Appropriate symptomatic treatments should be given according to clinical symptoms and signs.In this article, we report a case of adult osteopetrosis, review the related literature,and discuss the clinical classifications, characteristic X-ray findings, pathogenesis, diagnosis and differential diagnosis,treatment, and prognosis of the disease.
Osteopetrosis is a rare hereditary disease whose clinical manifestations are diverse and complex.Specific imaging findings are the main evidence for diagnosis.The disease is caused by a decrease in the number of osteoclasts and by functional defects in osteoclasts, and it is regulated by multiple genes.Appropriate symptomatic treatments should be given according to clinical symptoms and signs.In this article, we report a case of adult osteopetrosis, review the related literature,and discuss the clinical classifications, characteristic X-ray findings, pathogenesis, diagnosis and differential diagnosis,treatment, and prognosis of the disease.
引文
[1]陈炽贤.实用放射学[M].2版.北京:人民卫生出版社,2003:858-859.CHEN C X.Practical radiology[M].2nd ed.Beijing:People's Medical Publishing House,2003:858-859.
[2]ALBERS-SCHONBERG H.Roentgenbilder einer seltenen knochennerkrankung[J].Munch Med Wochenschr,1904,51:365-368.
[3]TETI A,ECONS M J.Osteopetroses,emphasizing potential approaches to treatment[J].Bone,2017,102:50-59.DOI:10.1016/j.bone.2017.02.002.
[4]COUDERT A E,DE VERNEJOUL M C,MURACA M,et al.Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton[J].Int J Endocrinol,2015,2015:372156.DOI:10.1155/2015/372156.
[5]SIT C,AGRAWAL K,FOGELMAN I,et al.Osteopetrosis:radiological and radionuclide imaging[J].Indian J Nucl Med,2015,30(1):55-58.DOI:10.4103/0972-3919.147544.
[6]FAIRBANK H A.Osteopetrosis;osteopetrosis generalisata,marble bones;Albers-Sch?nberg's disease,osteosclerosis fragilitas generalisata[J].J Bone Joint Surg Br,1948,30B(2):339-356.
[7]ASLAN A,BAYKAL Y B,UYSAL E,et al.Surgical treatment of osteopetrosis-related femoral fractures:two case reports and literature review[J].Case Rep Orthop,2014,2014:891963.DOI:10.1155/2014/891963.
[8]PETRYK A,POLGREEN L,DEFOR T E,et al.Bone mineral density,growth and endocrine function in children with infantile osteopetrosis after HCT[J].Biol Blood Marrow Transplant,2016,22(3):S257-258.DOI:10.1016/j.bbmt.2015.11.687.
[9]RACHNER T D,KHOSLA S,HOFBAUER L C.Osteoporosis:now and the future[J].Lancet,2011,377(9773):1276.DOI:10.1016/S0140-6736(10)62349-5.
[10]AL-TAMIMI Y Z,TYAGI A K,CHUMAS P D,et al.Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding[J].J Neurosurg Pediatr,2007,1(1):103-106.DOI:10.3171/PED-08/01/103.
[11]SUPERTI-FURGA A,UNGER S.Nosologe and classification of genetic skeletal disorders:2006 revision[J].Am J Med Genet A,2007,143(1):1-18.
[12]VILLA A,GUERRINI M M,CASSANI B,et al.Infantile malignant,autosomal recessive osteopetrosis:the rich and the poor[J].Calcif Tissue Int,2009,84(1):1-12.DOI:10.1007/s00223-008-9196-4.
[13]FRATTINI A,ORCHARD P J,SOBACCHI C,et al.Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis[J].Nat Genet,2000,25(3):343-346.DOI:10.1038/77131.
[14]OTHMAN I S,IBRAHIM H,HII K C,et al.Mild autosomal recessive osteopetrosis:successful treatment with bone marrow transplant[J].Med J Malaysia,2009,64(4):325-326.
[15]SH ALI A A,ALMASHTA S A.Cerebral calcification,osteopetrosis and renal tubular acidosis:is it carbonic anhydrase-Ⅱdeficiency?[J].Saudi J Kidney Dis Transpl,2013,24(3):561-565.DOI:10.4103/1319-2442.111067.
[16]庞倩倩,董进,夏维波.骨硬化症研究进展[J].中华骨质疏松和骨矿盐疾病杂志,2014,7(1):82-90.DOI:10.3969/j.issn.1674-2591.2014.01.015.PANG QQ,DONG J,XIA W B.Advances in bone sclerosis[J].Chinese Journal of Osteoporosis and Bone Mineral Disease,2014,7(1):82-90.DOI:10.3969/j.issn.1674-2591.2014.01.015.
[17]DEL FATTORE A,PERUZZI B,RUCCI N,et al.Clinical,genetic,and cellular analysis of 49 osteopetrotic patients:implications for diagnosis and treatment[J].J Med Genet,2006,43(4):315-325.
[18]CLEIREN E,BéNICHOU O,VAN HUL E,et al.AlbersSch?nberg disease(autosomal dominant osteopetrosis,typeⅡ)results from mutations in the CLCN7 chloride channel gene[J].Hum Mol Genet,2001,10(25):2861-2867.
[19]ZHANG X,WEI Z,HE J,et al.Novel mutations of CLCN7cause autosomal dominant osteopetrosis typeⅡ(ADOⅡ)and intermediate autosomal recessive osteopetrosis(ARO)in seven Chinese families[J].Postgrad Med,2017,129(8):934-942.DOI:10.1080/00325481.2017.1386529.
[20]唐郁宽,马德智.石骨症的临床X线诊断[J].实用医学杂志,2000,16(7):576-577.TANG YK,MADZ.Clinical X-ray diagnosis of osteopetrosis[J].Practical Journal of Medicine,2000,16(7):576-577.
[21]许有生,黄锡仁,冯国灿,等.石骨症的X线表现[J].中华骨科杂志,1987,7(6):454.XU Y S,HUANG X R,FENG G C,et al.X-ray manifestations of osteopetrosis[J].Chinese Journal of Orthopedics,1987,7(6):454.
[22]孙国强.实用儿科放射诊断学[M].北京:人民军医出版社,2011.SUN G Q.Practical pediatric diagnostic radiology[M].Beijing:People's Military Medical Press,2011.
[23]RAZIK A,GOYAL A,GUPTA A K.Dural calcification and calvarial hyperostosis:a rare cause of obstructive hydrocephalus in‘malignant'osteopetrosis[J].BMJ Case Rep,2015.DOI:10.1136/bcr-2015-212283.
[24]ASAGIRI M,TAKAYANAGI H.The molecular understanding of osteoclast differentiation[J].Bone,2007,40(2):251.DOI:10.1016/j.bone.2006.09.023.
[25]BURROWS B,MARTINEZ F D,HALONEN M,et al.Association of asthma with serum IgE levels and shin test reactivity to allergens[J].New Eng J Med,1989,320(5):271-277.DOI:10.1056/NEJM198902023200502.
[26]柯耀华,章振林.骨硬化症致病基因研究进展[J].中华骨质疏松和骨矿盐疾病杂志,2010,3(2):122-127.DOI:10.3969/j.issn.1674-2591.2010.02.009.KE Y H,ZHANG Z L.Progress in the virulence genes of osteopeterosis[J].Chinese Journal of Osteoporosis and Bone Mineral Disease,2010,3(2):122-127.DOI:10.3969/j.issn.1674-2591.2010.02.009.
[27]孙玉富,赵丽军,孙殿军.地方性氟中毒病区控制评价指标及标准研究[J].中国地方病学杂志,2009,28(2):225-227.DOI:10.3760/cma.j.issn.1000-4955.2009.02.033.SUN Y F,ZHAO L J,SUN D J.Study on the evaluation indexes and criteria of control of endemic fluorosis[J].Chinese Journal of Endemiology,2009,28(2):225-227.DOI:10.3760/cma.j.issn.1000-4955.2009.02.033.
[28]胡彬,曾秉辉,胡悦林,等.一例罕见的新的TCIRG1基因杂合性突变引起的婴儿恶性石骨症[J].中国病理生理杂志,2015,31(7):1237-1241.DOI:10.3969/j.issn.1000-4718.2015.07.015.HU B,ZENG B H,HU Y L,et al.An unusual and novel heterozygous TCIRG1 mutation causes infantile ma-lignant osteopetrosis[J].Chinese Journal of Pathophysiology,2015,31(7):1237-1241.DOI:10.3969/j.issn.1000-4718.2015.07.015.
[29]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 G H,QIN M Q,WANG B,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.
[30]DONG L,HE W,HUO S,et al.The failure experience of complex total hip arthroplastyin osteopetrosis:case report and literature review[J].Int J Clin Exp Med,2015,8(9):14727-14731.
[31]LANDA J,MARGOLIS N,DI CESARE P.Orthopaedic management of the patient with osteopetrosis[J].J Am Acad Orthop Surg,2007,15(11):654-662.DOI:10.5435/00124635-200711000-00004.
[32]MAURIZI A,CAPULLI M,PATEL R,et al.RNA interference therapy for autosomal dominant osteopetrosis type 2.Towards the preclinical development[J].Bone,2018,110:343-353.DOI:10.1016/j.bone.2018.02.031.
[33]范永前,杨庆铭.定制人工股骨头置换术治疗石骨症一例报告[J].中华骨科杂志,2013,33(10):1070-1072.DOI:10.3760/cma.j.issn.0253-2352.2013.10.016.FAN Y Q,YANG Q M.Custom artificial femoral head replacement for the treatment of osteopetrosis:a case report[J].Chinese Journal of Orthopedics,2013,33(10):1070-1072.DOI:10.3760/cma.j.issn.0253-2352.2013.10.016.
[34]BEHERA P,KHURANA A,SAIBABA B,et al.Dealing with sub-trochanteric fracture in a child with osteopetrosis:a case report[J].Acta Orthop Belg,2016,82(4):907-912.
[2]ALBERS-SCHONBERG H.Roentgenbilder einer seltenen knochennerkrankung[J].Munch Med Wochenschr,1904,51:365-368.
[3]TETI A,ECONS M J.Osteopetroses,emphasizing potential approaches to treatment[J].Bone,2017,102:50-59.DOI:10.1016/j.bone.2017.02.002.
[4]COUDERT A E,DE VERNEJOUL M C,MURACA M,et al.Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton[J].Int J Endocrinol,2015,2015:372156.DOI:10.1155/2015/372156.
[5]SIT C,AGRAWAL K,FOGELMAN I,et al.Osteopetrosis:radiological and radionuclide imaging[J].Indian J Nucl Med,2015,30(1):55-58.DOI:10.4103/0972-3919.147544.
[6]FAIRBANK H A.Osteopetrosis;osteopetrosis generalisata,marble bones;Albers-Sch?nberg's disease,osteosclerosis fragilitas generalisata[J].J Bone Joint Surg Br,1948,30B(2):339-356.
[7]ASLAN A,BAYKAL Y B,UYSAL E,et al.Surgical treatment of osteopetrosis-related femoral fractures:two case reports and literature review[J].Case Rep Orthop,2014,2014:891963.DOI:10.1155/2014/891963.
[8]PETRYK A,POLGREEN L,DEFOR T E,et al.Bone mineral density,growth and endocrine function in children with infantile osteopetrosis after HCT[J].Biol Blood Marrow Transplant,2016,22(3):S257-258.DOI:10.1016/j.bbmt.2015.11.687.
[9]RACHNER T D,KHOSLA S,HOFBAUER L C.Osteoporosis:now and the future[J].Lancet,2011,377(9773):1276.DOI:10.1016/S0140-6736(10)62349-5.
[10]AL-TAMIMI Y Z,TYAGI A K,CHUMAS P D,et al.Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding[J].J Neurosurg Pediatr,2007,1(1):103-106.DOI:10.3171/PED-08/01/103.
[11]SUPERTI-FURGA A,UNGER S.Nosologe and classification of genetic skeletal disorders:2006 revision[J].Am J Med Genet A,2007,143(1):1-18.
[12]VILLA A,GUERRINI M M,CASSANI B,et al.Infantile malignant,autosomal recessive osteopetrosis:the rich and the poor[J].Calcif Tissue Int,2009,84(1):1-12.DOI:10.1007/s00223-008-9196-4.
[13]FRATTINI A,ORCHARD P J,SOBACCHI C,et al.Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis[J].Nat Genet,2000,25(3):343-346.DOI:10.1038/77131.
[14]OTHMAN I S,IBRAHIM H,HII K C,et al.Mild autosomal recessive osteopetrosis:successful treatment with bone marrow transplant[J].Med J Malaysia,2009,64(4):325-326.
[15]SH ALI A A,ALMASHTA S A.Cerebral calcification,osteopetrosis and renal tubular acidosis:is it carbonic anhydrase-Ⅱdeficiency?[J].Saudi J Kidney Dis Transpl,2013,24(3):561-565.DOI:10.4103/1319-2442.111067.
[16]庞倩倩,董进,夏维波.骨硬化症研究进展[J].中华骨质疏松和骨矿盐疾病杂志,2014,7(1):82-90.DOI:10.3969/j.issn.1674-2591.2014.01.015.PANG QQ,DONG J,XIA W B.Advances in bone sclerosis[J].Chinese Journal of Osteoporosis and Bone Mineral Disease,2014,7(1):82-90.DOI:10.3969/j.issn.1674-2591.2014.01.015.
[17]DEL FATTORE A,PERUZZI B,RUCCI N,et al.Clinical,genetic,and cellular analysis of 49 osteopetrotic patients:implications for diagnosis and treatment[J].J Med Genet,2006,43(4):315-325.
[18]CLEIREN E,BéNICHOU O,VAN HUL E,et al.AlbersSch?nberg disease(autosomal dominant osteopetrosis,typeⅡ)results from mutations in the CLCN7 chloride channel gene[J].Hum Mol Genet,2001,10(25):2861-2867.
[19]ZHANG X,WEI Z,HE J,et al.Novel mutations of CLCN7cause autosomal dominant osteopetrosis typeⅡ(ADOⅡ)and intermediate autosomal recessive osteopetrosis(ARO)in seven Chinese families[J].Postgrad Med,2017,129(8):934-942.DOI:10.1080/00325481.2017.1386529.
[20]唐郁宽,马德智.石骨症的临床X线诊断[J].实用医学杂志,2000,16(7):576-577.TANG YK,MADZ.Clinical X-ray diagnosis of osteopetrosis[J].Practical Journal of Medicine,2000,16(7):576-577.
[21]许有生,黄锡仁,冯国灿,等.石骨症的X线表现[J].中华骨科杂志,1987,7(6):454.XU Y S,HUANG X R,FENG G C,et al.X-ray manifestations of osteopetrosis[J].Chinese Journal of Orthopedics,1987,7(6):454.
[22]孙国强.实用儿科放射诊断学[M].北京:人民军医出版社,2011.SUN G Q.Practical pediatric diagnostic radiology[M].Beijing:People's Military Medical Press,2011.
[23]RAZIK A,GOYAL A,GUPTA A K.Dural calcification and calvarial hyperostosis:a rare cause of obstructive hydrocephalus in‘malignant'osteopetrosis[J].BMJ Case Rep,2015.DOI:10.1136/bcr-2015-212283.
[24]ASAGIRI M,TAKAYANAGI H.The molecular understanding of osteoclast differentiation[J].Bone,2007,40(2):251.DOI:10.1016/j.bone.2006.09.023.
[25]BURROWS B,MARTINEZ F D,HALONEN M,et al.Association of asthma with serum IgE levels and shin test reactivity to allergens[J].New Eng J Med,1989,320(5):271-277.DOI:10.1056/NEJM198902023200502.
[26]柯耀华,章振林.骨硬化症致病基因研究进展[J].中华骨质疏松和骨矿盐疾病杂志,2010,3(2):122-127.DOI:10.3969/j.issn.1674-2591.2010.02.009.KE Y H,ZHANG Z L.Progress in the virulence genes of osteopeterosis[J].Chinese Journal of Osteoporosis and Bone Mineral Disease,2010,3(2):122-127.DOI:10.3969/j.issn.1674-2591.2010.02.009.
[27]孙玉富,赵丽军,孙殿军.地方性氟中毒病区控制评价指标及标准研究[J].中国地方病学杂志,2009,28(2):225-227.DOI:10.3760/cma.j.issn.1000-4955.2009.02.033.SUN Y F,ZHAO L J,SUN D J.Study on the evaluation indexes and criteria of control of endemic fluorosis[J].Chinese Journal of Endemiology,2009,28(2):225-227.DOI:10.3760/cma.j.issn.1000-4955.2009.02.033.
[28]胡彬,曾秉辉,胡悦林,等.一例罕见的新的TCIRG1基因杂合性突变引起的婴儿恶性石骨症[J].中国病理生理杂志,2015,31(7):1237-1241.DOI:10.3969/j.issn.1000-4718.2015.07.015.HU B,ZENG B H,HU Y L,et al.An unusual and novel heterozygous TCIRG1 mutation causes infantile ma-lignant osteopetrosis[J].Chinese Journal of Pathophysiology,2015,31(7):1237-1241.DOI:10.3969/j.issn.1000-4718.2015.07.015.
[29]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 G H,QIN M Q,WANG B,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.
[30]DONG L,HE W,HUO S,et al.The failure experience of complex total hip arthroplastyin osteopetrosis:case report and literature review[J].Int J Clin Exp Med,2015,8(9):14727-14731.
[31]LANDA J,MARGOLIS N,DI CESARE P.Orthopaedic management of the patient with osteopetrosis[J].J Am Acad Orthop Surg,2007,15(11):654-662.DOI:10.5435/00124635-200711000-00004.
[32]MAURIZI A,CAPULLI M,PATEL R,et al.RNA interference therapy for autosomal dominant osteopetrosis type 2.Towards the preclinical development[J].Bone,2018,110:343-353.DOI:10.1016/j.bone.2018.02.031.
[33]范永前,杨庆铭.定制人工股骨头置换术治疗石骨症一例报告[J].中华骨科杂志,2013,33(10):1070-1072.DOI:10.3760/cma.j.issn.0253-2352.2013.10.016.FAN Y Q,YANG Q M.Custom artificial femoral head replacement for the treatment of osteopetrosis:a case report[J].Chinese Journal of Orthopedics,2013,33(10):1070-1072.DOI:10.3760/cma.j.issn.0253-2352.2013.10.016.
[34]BEHERA P,KHURANA A,SAIBABA B,et al.Dealing with sub-trochanteric fracture in a child with osteopetrosis:a case report[J].Acta Orthop Belg,2016,82(4):907-912.