SLC34A2 Gene mutation of pulmonary alveolar microlithiasis: Report of four cases and review of literatures

Respiratory Medicine

Volumn 107, Issue 2, 2013, Pages 217-222

  Yin, Xinzhen ^a   Wang, Huiying ^a   Wu, Dingwen ^b   Zhao, Guohua ^a   Shao, Jingxin ^a   Dai, Yu ^a  

^a ZHEJIANG UNIVERSITY   (China)

^b ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Mutation; Pulmonary alveolar microlithiasis; SLC34A2 gene

Indexed keywords

SODIUM PHOSPHATE COTRANSPORTER 2B;

ADULT; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHINA; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINEOUS MARRIAGE; COUGHING; DNA SEQUENCE; DYSPNEA; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; JAPAN; LUNG DISEASE; MALE; PRIORITY JOURNAL; PULMONARY ALVEOLAR MICROLITHIASIS; REVIEW; STONE FORMATION; THORAX RADIOGRAPHY; TURKEY (REPUBLIC);

EID: 84872116986     PISSN: 09546111     EISSN: 15323064     Source Type: Journal    
DOI: 10.1016/j.rmed.2012.10.016     Document Type: Article

References (24)

1. L. Puhr Mikrolithiasis alveolaris pulmonum Virchows Arch Pathol Anat Physiol Klin Med 290 1933 156 160
2. U.B. Prakash Pulmonary alveolar microlithiasis Semin Respir Crit Care Med 23 2002 103 113
3. P. Cluzel, P. Grenier, P. Bernadac, F. Laurent, and J.D. Picard Pulmonary alveolar microlithiasis: CT findings J Comput Assist Tomogr 15 1991 938 942
4. S. Mariotta, A. Ricci, M. Papale, F. De Clementi, B. Sposato, and L. Guidi Pulmonary alveolar microlithiasis: report on 576 cases published in the literature Sarcoidosis Vasc Diffuse Lung Dis 21 2004 173 181
5. E.S. Ucan, A.I. Keyf, R. Aydilek, Z. Yalcin, S. Sebit, and M. Kudu Pulmonary alveolar microlithiasis: review of Turkish reports Thorax 48 1993 171 173
6. G. Castellana, M. Gentile, R. Castellana, P. Fiorente, and V. Lamorgese Pulmonary alveolar microlithiasis: clinical features, evolution of the phenotype, and review of the literature Am J Med Genet 111 2002 220 224
7. T. Tachibana, K. Hagiwara, and T. Johkoh Pulmonary alveolar microlithiasis: review and management Curr Opin Pulm Med 15 2009 486 490
8. Y.Q. Zhong, C.P. Hu, X.D. Cai, and H.P. Nie A novel mutation of the SLC34A2 gene in a Chinese pedigree with pulmonary alveolar microlithiasis Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26 2009 365 368 [In Chinese]
9. H.Y. Wang, H.H. Shen, and Z.N. Jiang Pulmonary alveolar microlithiasis: report of four familial cases Chin Med J (Engl) 117 2004 950 952
10. Y. Yang, J.H. Qiao, J.H. An, Y. Zhang, T. Yu, and B. Jia Detection of SLC34A2 in patients with pulmonary alveolar microlithiasis and the effect of SLC34A2 on transportation of calcium and phosphate in human alveolar epithelial cells Zhonghua Jie He He Hu Xi Za Zhi 31 2008 908 911 [In Chinese]
11. Y. Zhang, Y. Yang, T. Yu, J.H. Qiao, W.L. Tumen, and C.F. Wu Three cases of pulmonary alveolar microlithiasis in a family and clinical analysis Zhonghua Jie He He Hu Xi Za Zhi 31 2008 112 115 [In Chinese]
12. H.S. Lu, T. Zhou, and M.F. Gan Pulmonary alveolar microlithiasis: report of a case Zhonghua Bing Li Xue Za Zhi 36 2007 348 349 [In Chinese]
13. R.Y. Ouyang, and P. Chen A case of pulmonary alveolar microlithiasis Hunan Yi Ke Da Xue Xue Bao 28 2003 370 378 [In Chinese]
14. S.P. Yang, and C.C. Lin Pulmoonary alveolar microlithiasis; a report of two youngest cases in a family Dis Chest 44 1963 163 167
15. B.Y. Zheng Pulmonary alveolar microlithiasis: a rare familial inheritance with report of three cases in a family (author's transl) Zhonghua Jie He He Hu Xi Xi Ji Bing Za Zhi 2 1979 103 105 [In Chinese]
16. Huqun, S. Izumi, H. Miyazawa, K. Ishii, B. Uchiyama, and T. Ishida Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis Am J Respir Crit Care Med 175 2007 263 268
17. A. Corut, A. Senyigit, S.A. Ugur, S. Altin, U. Ozcelik, and H. Calisir Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis Am J Hum Genet 79 2006 650 656
18. Y. Ishihara, K. Hagiwara, K. Zen, Huqun, Y. Hosokawa, and A. Natsuhara A case of pulmonary alveolar microlithiasis with an intragenetic deletion in SLC34A2 detected by a genome-wide SNP study Thorax 64 2009 365 367
19. M. Proesmans, M. Boon, E. Verbeken, U. Ozcelik, N. Kiper, and W. Van de Casseye Pulmonary alveolar microlithiasis: a case report and review of the literature Eur J Pediatr 171 7 2012 1069 1072
20. O.T. Dogan, S.L. Ozsahin, E. Gul, S. Arslan, B. Koksal, and S. Berk A frame-shift mutation in the SLC34A2 gene in three patients with pulmonary alveolar microlithiasis in an inbred family Intern Med 49 2010 45 49 21
21. U. Ozcelik, E. Yalcin, M. Ariyurek, D.D. Ersoz, G. Cinel, and B. Gulhan Long-term results of disodium etidronate treatment in pulmonary alveolar microlithiasis Pediatr Pulmonol 45 5 2010 514 517
22. H. Olauson, V. Brandenburg, and T.E. Larsson Mutation analysis and serum FGF23 level in a patient with pulmonary alveolar microlithiasis Endocrine 37 2 2010 244 248
23. O. Deniz, F. Ors, E. Tozkoparan, A. Ozcan, S. Gumus, U. Bozlar, H. Bilgic, K. Ekiz, and N. Demirci High resolution computed tomographic features of pulmonary alveolar microlithiasis Eur J Radiol 55 2005 452 460
24. L. Jönsson Å, O. Hilberg, E.M. Bendstrup, S. Mogensen, and U. Simonsen SLC34A2 gene mutation may explain comorbidity of pulmonary alveolarmicrolithiasis and aortic valve sclerosis Am J Respir Crit Care Med 185 4 2012 464 15