Journal of Developmental Medicine(Electronic Version)  2015, Vol. 3 Issue (1): 18-23 DOI: |
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| The study of SLC12A3 complicated heterozygotic mutation in children Gitelman syndrome |
| GAO Chun-lin, XIA Zheng-kun, GAO Yuan-fu, FAN Zhong-min, XU Min, WEI Wei, ZHOU Yu,#br#
MO Gui-ling
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| 1 Jinling Hospital 2 Guangzhou Kingmed Center Of Clinical Laboratory |
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Abstract 【Abstract】Objective To study the clinical, pathological and genetical manifestation of Gitelmansyndrome. Method The clinical data, renal biopsy pathology, genetic mutations of patients diagnosed withGitelman syndrome were analyzed. Results All the patients showed hypopotassemia, hypomagnesemia,alkalipoisoning, hyperaldosteronemia，hyperreninemia. SLC12A3 complicated heterozygotic mutationwas observed. Conclusions Gitelman syndrome in children is insidious and the incidence rate of SLC12A3complicated heterozygotic mutation is high. Genetic tests can diagnose the disease. Pediatrician must recognize the manifestations to avoid misdiagnosis.
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Received: 11 August 2014
Published: 20 July 2019
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