肺泡微結石癥的研究進展_West China Medical Journal

Authors：

 張娟 ,  楊小東 , 黃燕花 , 劉暢 , 胡秋芳

四川大學華西醫院呼吸內科（成都，610041）;

Corresponding?author：

楊小東, Email: yang-xiaodong@163.com

Keywords：

肺泡微結石癥; 常染色體隱性; 溶質轉運蛋白家族; 磷酸鈣鹽沉積

DOI：

10.7507/1002-0179.20140541

Video：

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肺泡微結石癥（PAM）是一種罕見疾病，起病隱匿，病程漫長，早期缺乏臨床癥狀，極易誤診。影像學和病理活體組織檢查是主要診斷手段。PAM病因不明，有研究表明可能與基因突變有關，且多有家族遺傳史。早診斷、早治療有助于延長PAM患者的生命。為提高對該病的認識，現將近年來有關肺泡微結石癥的研究進展作一綜述。

Citation： 張娟, 楊小東, 黃燕花, 劉暢, 胡秋芳. 肺泡微結石癥的研究進展. West China Medical Journal, 2014, 29(9): 1775-1778. doi: 10.7507/1002-0179.20140541 Copy

1.	Harbitz F.Extensive calcification of the lungs as a distinct disease[J].Arch Intern Med,1918,21:139-146.
2.	Sosman MC,Dodd GD,Jones WD,et al.The familial occurrence of pulmonary alveolar microlithiasis[J].Am J Roentgenol Radium Ther Nucl Med,1957,77(6):947-1012.
3.	Tachibana T,Hayashi S,Jokoh T,et al.Takahashi H:diagnosis and management of pulmonary alveolar microlithiasis[J].Sarcoidosis Vasc and Diffuse Lung Dis,2001,18(Suppl 1):58.
4.	黃悅.肺泡微結石一例誤診[J].臨床誤診誤治,2002,15(6):429-430.
5.	賈小青,丁麗芳.罕見的肺泡微結石癥誤診一例分析[J].臨床誤診誤治,2012,25(5):19-20.
6.	范宜春.肺泡微結石癥誤診為粟粒性肺結核一例[J].臨床誤診誤治,1993(1):37.
7.	Mariotta S,Ricci A,Papale M,et al.Pulmonary alveolar microlithiasis:report on 576 cases published in the literature[J].Sarcoidosis Vasc Diffuse Lung Dis,2004,21(3):173-181.
8.	Ucan ES,Keyf AI,Aydilek R,et al.Pulmonary alveolar microlithiasis:review of Turkish reports[J].1993,48(2):171-173.
9.	Korn MA,Schurawitzki H,Klepetko W,et al.Pulmonary alveolar microlithiasis:findings on high-resolution CT[J].AJR Am J Roentgenol,1992,158(5):981-982.
10.	Gasparetto EL,Tazoniero P,Escuissato DL,et al.Pulmonary alveolar microlithiasis presenting with crazy-paving pattern on high resolution CT[J].Br J Radiol,2004,77(923):974-976.
11.	Caffrey PR,Altman RS.Pulmonary alveolar microlitbiasis occurring in premature twins[J].J Pediatr,1965(66):758-763.
12.	Rajagopalan CR,Krishna KVS,Rao MH,et al.Pulmonary alveolar microlithiasis.Report of a case[J].Indian Pediatr,1967,34(236):328-331.
13.	周翠蘭,黃夏,子楠,等.肺泡微石癥兩例報告并綜合國內35例分析[J].中華結核和呼吸系疾病雜志,1985,8(5):293-295.
14.	楊洋,喬俊華,安繼紅,等.肺泡微結石癥患者磷酸鈉協同轉運蛋白基因的檢測及其變異[J].中華結核和呼吸雜志,2008,31(12):908-911.
15.	劉金保.肺泡微石癥1例[J].疑難病雜志,2013,12(11):884.
16.	邵婧昕.肺泡微結石癥72例臨床分析[D].杭州:浙江大學,2012.
17.	Feild JA,Zhang L,Brun KA,et al.Cloning and functional characterization of a sodium-dependent prostate transporter expressed in human lung and small intestine[J].Biochem Biophys Res Commun,1999,258(3):578-582.
18.	Özbudak İh,Bassorgun cİ,Özbilimgülay,et al.Pulmonary alveolar microlithiasis with homozygous c.316g>c (p.g106r) mutation:a case report[J/OL].http://www.turkjpath.org/text.php3?id=1565.
19.	楊洋,喬俊華,安繼紅,等.肺泡微結石癥患者磷酸鈉協同轉運蛋白基因的檢測及其變異[J].中華結核和呼吸雜志,2008,31(12):908-911.
20.	Ellison J.Novel human pathological mutations.Gene symbol:SLC34A2.Disease:pulmonary alveolar microlithiasis[J].Hum Genet,2009,125(3):333.
21.	鐘有清,胡成平,蔡只東,等.一個肺泡微結石癥家系中SLC34 A2基因的新突變[J].中華遺傳學雜志,2009,26(4):365-368.
22.	Yin BW,Kiyamova R.Chua R,et al.Monoclonal antibody MX35 detects the membrane transporter NaPi2b(SLC34A2) in human carcinomas[J].Cancer Immun,2008,8:3.
23.	Murer H,Forster I,Biber J.The Sodium phosphate cotransporter family SLC34[J].Pflugers Arch,2004,447(5):763-767.
24.	張越,楊洋,喬俊華,等.SLC34A2在鈣、磷代謝中的研究進展[J].中國老年學雜志,2007,27(18):1846-1848.
25.	Wang HY,Shen HH,Jiang ZN.Pulmonary alveolar microlithiasis:report of four familial cases[J].Chin Med J (Engl),2004,117(6):950-952.
26.	Corut A,Senyigit A,Ugur SA,et al.Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis[J].Am J Hum Genet,2006,79(4):650-656.
27.	王世波,張紹坤,于曉莉,等.肺泡微結石癥1例[J].臨床肺科雜志,2011,16(10):1648-1649.
28.	林國為.實用內科學[M].13版.北京:人民衛生出版社,2009:1896-1897.
29.	張德信,孫秀珍.不典型肺泡微石癥1例[J].現代中西醫結合雜志,2008,17(24):3847-3848.
30.	Castellana G,Gentile M,Castellana R,et al.Pulmonary alveolar microlithiasis:clinical features,evolution of the phenotype,and review of the literature[J].Am J Med Genet,2002,111(2):220-224.
31.	劉志勇.肺泡微石癥合并肺大泡1例[J].中國醫學影像技術,2004,20(Suppl 1):48.
32.	魯沈源,白春學.肺泡微石癥的診治進展[J].中華結核和呼吸雜志,2010,33(8):616-618.
33.	曹恒昌.左上肺葉肺泡微結石癥合并腺癌1例[J].嶺南現代臨床外科,2004,4(1):58.
34.	Izumi S,Miyazawa H,Ishii K,et al.Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis[J].Am J Respir Crit Care Med,2007,175(3):263-268.
35.	Takahashi H,Chiba H,Shiratori M,et al.Elevated serum surfactant protein A and D in pulmonary alveolar microlithiasis[J].Respirology,2006,11(3):330-333.
36.	李天女,朱曉華,龍正干,等.肺泡微結石癥CT表現(附3例報告)[J].上海醫學影像,2005,14(4):287-289.
37.	楊光釗,宓沛朝,李森華.肺泡微石癥的影像學表現及隨訪觀察[J].中華放射學雜志,2001,35(6):445-447.
38.	Marchiori E,Gon?alves CM,Escuissato DL,et al.Pulmonary alveolar microlithiasis:high-resolution computed tomography findings in 10 patients[J].J Bras Pneumol,2007,33(5):552-557.
39.	Edelman JD,Bavaria J,Kaiser LR,et al.Bilateral sequential lung transplantation for pulmonary alveolar microlithiasis[J].Chest,1997,112(4):1140-1144.
40.	Raffa H,El-Dakhakhny M,Al-Ibrahim K,et al.Single lung transplantation for alveolar micro-lithiasis:the first clinical report[J].1996,7(2):189-193.

1. Harbitz F.Extensive calcification of the lungs as a distinct disease[J].Arch Intern Med,1918,21:139-146.
2. Sosman MC,Dodd GD,Jones WD,et al.The familial occurrence of pulmonary alveolar microlithiasis[J].Am J Roentgenol Radium Ther Nucl Med,1957,77(6):947-1012.
3. Tachibana T,Hayashi S,Jokoh T,et al.Takahashi H:diagnosis and management of pulmonary alveolar microlithiasis[J].Sarcoidosis Vasc and Diffuse Lung Dis,2001,18(Suppl 1):58.
4. 黃悅.肺泡微結石一例誤診[J].臨床誤診誤治,2002,15(6):429-430.
5. 賈小青,丁麗芳.罕見的肺泡微結石癥誤診一例分析[J].臨床誤診誤治,2012,25(5):19-20.
6. 范宜春.肺泡微結石癥誤診為粟粒性肺結核一例[J].臨床誤診誤治,1993(1):37.
7. Mariotta S,Ricci A,Papale M,et al.Pulmonary alveolar microlithiasis:report on 576 cases published in the literature[J].Sarcoidosis Vasc Diffuse Lung Dis,2004,21(3):173-181.
8. Ucan ES,Keyf AI,Aydilek R,et al.Pulmonary alveolar microlithiasis:review of Turkish reports[J].1993,48(2):171-173.
9. Korn MA,Schurawitzki H,Klepetko W,et al.Pulmonary alveolar microlithiasis:findings on high-resolution CT[J].AJR Am J Roentgenol,1992,158(5):981-982.
10. Gasparetto EL,Tazoniero P,Escuissato DL,et al.Pulmonary alveolar microlithiasis presenting with crazy-paving pattern on high resolution CT[J].Br J Radiol,2004,77(923):974-976.
11. Caffrey PR,Altman RS.Pulmonary alveolar microlitbiasis occurring in premature twins[J].J Pediatr,1965(66):758-763.
12. Rajagopalan CR,Krishna KVS,Rao MH,et al.Pulmonary alveolar microlithiasis.Report of a case[J].Indian Pediatr,1967,34(236):328-331.
13. 周翠蘭,黃夏,子楠,等.肺泡微石癥兩例報告并綜合國內35例分析[J].中華結核和呼吸系疾病雜志,1985,8(5):293-295.
14. 楊洋,喬俊華,安繼紅,等.肺泡微結石癥患者磷酸鈉協同轉運蛋白基因的檢測及其變異[J].中華結核和呼吸雜志,2008,31(12):908-911.
15. 劉金保.肺泡微石癥1例[J].疑難病雜志,2013,12(11):884.
16. 邵婧昕.肺泡微結石癥72例臨床分析[D].杭州:浙江大學,2012.
17. Feild JA,Zhang L,Brun KA,et al.Cloning and functional characterization of a sodium-dependent prostate transporter expressed in human lung and small intestine[J].Biochem Biophys Res Commun,1999,258(3):578-582.
18. Özbudak İh,Bassorgun cİ,Özbilimgülay,et al.Pulmonary alveolar microlithiasis with homozygous c.316g>c (p.g106r) mutation:a case report[J/OL].http://www.turkjpath.org/text.php3?id=1565.
19. 楊洋,喬俊華,安繼紅,等.肺泡微結石癥患者磷酸鈉協同轉運蛋白基因的檢測及其變異[J].中華結核和呼吸雜志,2008,31(12):908-911.
20. Ellison J.Novel human pathological mutations.Gene symbol:SLC34A2.Disease:pulmonary alveolar microlithiasis[J].Hum Genet,2009,125(3):333.
21. 鐘有清,胡成平,蔡只東,等.一個肺泡微結石癥家系中SLC34 A2基因的新突變[J].中華遺傳學雜志,2009,26(4):365-368.
22. Yin BW,Kiyamova R.Chua R,et al.Monoclonal antibody MX35 detects the membrane transporter NaPi2b(SLC34A2) in human carcinomas[J].Cancer Immun,2008,8:3.
23. Murer H,Forster I,Biber J.The Sodium phosphate cotransporter family SLC34[J].Pflugers Arch,2004,447(5):763-767.
24. 張越,楊洋,喬俊華,等.SLC34A2在鈣、磷代謝中的研究進展[J].中國老年學雜志,2007,27(18):1846-1848.
25. Wang HY,Shen HH,Jiang ZN.Pulmonary alveolar microlithiasis:report of four familial cases[J].Chin Med J (Engl),2004,117(6):950-952.
26. Corut A,Senyigit A,Ugur SA,et al.Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis[J].Am J Hum Genet,2006,79(4):650-656.
27. 王世波,張紹坤,于曉莉,等.肺泡微結石癥1例[J].臨床肺科雜志,2011,16(10):1648-1649.
28. 林國為.實用內科學[M].13版.北京:人民衛生出版社,2009:1896-1897.
29. 張德信,孫秀珍.不典型肺泡微石癥1例[J].現代中西醫結合雜志,2008,17(24):3847-3848.
30. Castellana G,Gentile M,Castellana R,et al.Pulmonary alveolar microlithiasis:clinical features,evolution of the phenotype,and review of the literature[J].Am J Med Genet,2002,111(2):220-224.
31. 劉志勇.肺泡微石癥合并肺大泡1例[J].中國醫學影像技術,2004,20(Suppl 1):48.
32. 魯沈源,白春學.肺泡微石癥的診治進展[J].中華結核和呼吸雜志,2010,33(8):616-618.
33. 曹恒昌.左上肺葉肺泡微結石癥合并腺癌1例[J].嶺南現代臨床外科,2004,4(1):58.
34. Izumi S,Miyazawa H,Ishii K,et al.Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis[J].Am J Respir Crit Care Med,2007,175(3):263-268.
35. Takahashi H,Chiba H,Shiratori M,et al.Elevated serum surfactant protein A and D in pulmonary alveolar microlithiasis[J].Respirology,2006,11(3):330-333.
36. 李天女,朱曉華,龍正干,等.肺泡微結石癥CT表現(附3例報告)[J].上海醫學影像,2005,14(4):287-289.
37. 楊光釗,宓沛朝,李森華.肺泡微石癥的影像學表現及隨訪觀察[J].中華放射學雜志,2001,35(6):445-447.
38. Marchiori E,Gon?alves CM,Escuissato DL,et al.Pulmonary alveolar microlithiasis:high-resolution computed tomography findings in 10 patients[J].J Bras Pneumol,2007,33(5):552-557.
39. Edelman JD,Bavaria J,Kaiser LR,et al.Bilateral sequential lung transplantation for pulmonary alveolar microlithiasis[J].Chest,1997,112(4):1140-1144.
40. Raffa H,El-Dakhakhny M,Al-Ibrahim K,et al.Single lung transplantation for alveolar micro-lithiasis:the first clinical report[J].1996,7(2):189-193.

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肺泡微結石癥的研究進展

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