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Two Novel Aquaporin-2 Mutations Responsible for Congenital Nephrogenic Diabetes Insipidus in Chinese Families
兩個在中國人先天性腎因性尿崩症家族的Aquaporin-2突變
並列摘要
Mutations in the aquaporin-2 gene (AQP2), encoding the vasopressin-regulate water channel of the renal collecting duct, are responsible for the autosomal recessive or dominant forms of congenital nephrogenic diabetes insipidus (NDI). We describe two new families with normal hypotensive and coagulation responses following the administration of dDAVP, a clinical suggestion of normal vasopressin-2 receptors. The patients were compound heterozygotes for point mutations at nucleotide position 170 (CAG to CCG; Q57P) and at position 299 (GGa to GTA; G100V) in exon 1 of the AQP2 gene. Expression of the G57P and G100V AQP2 proteins in Xenopus oocytes showed only 1.3-fold and 1.2-fold increase, respectively, in the water permeability (Pf) in contrast to 8.0-fold increase in oocytes injected with wild-type complementary RNA (cRNA). Immunoblots of oocyte lysate revealed the intensities of the 29-kDa bands were comparable among oocytes injected with wild-type and mutant cRNAs. \Immunocytochemistry showed the plasma membrane was not stained in oocytes injected with cRNA of Q57P and of G100V. These results provide evidence that the Q57P and G100V mutations in congenital NDI are attributable to the misrouting of AQP2 rather than to a disrupted water channel function.
並列關鍵字
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- Chung, H. M., Hsu, W. H., Luo, F. J., Tsai, Y. C., & Lin, F. S. (2007). 偉大模仿者－黃色肉芽腎盂腎炎：以相迴異臨床表徵出現之兩案例. 臺灣泌尿科醫學會雜誌, 18(4), 225-228. https://www.airitilibrary.com/Article/Detail?DocID=10163220-200712-18-4-225-228-a
- Hwu, W. L., Chien, Y. H., Liang, J. S., Lee, W. T., Wang, P. J., & Tsai, W. Y. (2003). 以艾迪生氏症為初表現之腎上線白質退化症之兩位患者. Journal of the Formosan Medical Association, 102(7), 510-513. https://doi.org/10.29828/JFMA.200307.0012
- 李威明（2008）。人類表皮生長因子第二型之表現和上尿路上皮癌之關聯性研究〔碩士論文，高雄醫學大學〕。華藝線上圖書館。https://www.airitilibrary.com/Article/Detail?DocID=U0011-0306200823150100
- Kao, C. C., Wu, C. J., Sun, G. H., Yu, D. S., Chen, H. I., Chang, S. Y., Ma, C. P., & Cha, T. L. (2010). 先天性儲精曩曩腫合併同側腎臟發育不全以膀胱出口阻塞症狀表現：病例報告及文獻回顧. The Kaohsiung Journal of Medical Sciences, 26(1), 30-34. https://www.airitilibrary.com/Article/Detail?DocID=1607551X-201001-201003030044-201003030044-30-34
- Wu, C. K., Lu, L. C., Wang, K. Y., Lin, B. S., & Chiang, S. S. (2009). 中樞性尿崩症與蘭格罕細胞組織球增生症－病例報告與文獻回顧. Acta Nephrologica, 23(2), 116-118. https://www.airitilibrary.com/Article/Detail?DocID=10131671-200906-23-2-116-118-a