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Analysis of Mutations of Two Gitelman Syndrome Family slc12a3 genes and Proposed Treatments Using Chinese Medicine

Chinese Journal of Integrative Medicine 2017年第6期23卷 461-468页

作者： LUO Jie-wei MENG Xiao-rong YANG Xiao LIANG Ji-xing HONG Fu-yuan ZHENG Xing-yu LI Wei-hua Department of Traditional Chinese Medicine Fujian Provincial HospitalFujian Medical UniversityFuzhou(350001)China Departmentof Endocrine and Kidney Fujian Provincial HospitalFuzhou(350001)China Fujian university of Traditional Chinese Medicine Fuzhou(350108)China Department of Surgical Oncology Fujian Provincial HospitalFujian Medical UniversityFuzhou(350001)China

Objective： To determine the gene location of two Gitelman syndrome （GS） family slc12a3 genes and explore treatments using Chinese medicine （CM） prescriptions. Methods： In order to locate the two GS mutations, samples were collected from 11 people from two different pedigrees for direct genetic sequencing and comparison of the 26 exons of slc12a3. Furthermore, the change of serum potassium was monitored throughout the therapy and those two probands undertook a sequential superposition of Western medicine （including potassium, Panangin and potassium-sparing diuretics） with CM prescription based on Buyang Huanwu Decoction （补阳还五汤） and Sijunzi Decoction （四君子汤）. The treatment included three stages, oral potassium chloride for the first 2 weeks （stage 1）, potassium-sparing diuretic and Panangin with potassium chloride for the next 2 weeks （stage 2）, CM along with the medicine in stage 2 for the final 2 weeks （stage 3）. Results： The three mutations occurring in proband 1 from pedigree 1 were Thr60Met, 965-1_976de113ins12 （small indels mutation） and Ala122Ala （homozygous silent mutation）. Likewise, three mutations, Asn359Lys, Thr382Met and Arg913GIn, appeared in the proband 2 from pedigree Ⅱ. The serum potassium levels increasing from baseline to sequential stages were 1.63 mmol/L （baseline）, 2.5 mmol/L （stage 1）, 3.1 mmol/L （stage 2） and 3.9 mmol/L （stage 3） in the proband 1, and 2.8 mmol/L （baseline）, 3.1 mmol/L （stage 1）, 3.5 mmol/L （stage 2） and 4.3 mmol/L （stage 3） in the proband 2, respectively. The symptoms （numbness of limbs, weakness, palpitations, etc.） of both probands were all alleviated. Conclusions： The mutations of both GS pedigrees can be defined as compound heterozygous mutations, most of which are known as missense mutations. Applying CM could be an appropriate choice for future intervention of GS.

关键词： Gitelman syndrome mutation slc12a3 gene Chinese medicine

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New slc12a3 disease causative mutation of Gitelman's syndrome

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World Journal of Nephrology 2016年第6期5卷 551-555页

作者： Teresa Grillone Miranda Menniti Francesco Bombardiere Marco Flavio Michele Vismara Stefania Belviso Fernanda Fabiani Nicola Perrotti Rodolfo Iuliano Emma Colao Medical genetics Unit of "Mater Domini"University Hospital University of Catanzaro Department of Health Science University of Catanzaro Department of Experimental and Clinical Medicine University of Catanzaro

Gitelman's syndrome(GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations of slc12a3, which encodes for the thiazidesensitive Na Cl cotransporter. In this study we report a new mutation of slc12a3 found in two brothers affected by GS. Hypokalemia, hypocalciuria and hyperreninemia were present in both patients while hypomagnesemia was detected only in one. Both patients are compound heterozygotes carrying one well known GS associated mutation(c.2581 C > T) and a new one(c.283 del C) in slc12a3 gene. The new mutation results in a possible frame-shift with a premature stopcodon(pG ln95 Argfs X19). The parents of the patients, heterozygous carriers of the mutations found in slc12a3, have no disease associated phenotype. Therefore, the new mutation is causative of GS.

关键词： Gitelman’s syndrome Thiazide-sensitive NaCl cotransporter Frame-shift mutation Tubulopathy slc12a3 gene

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