Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine

Jie-wei Luo; Xiao-rong Meng; Xiao Yang; Ji-xing Liang; Fu-yuan Hong; Xing-yu Zheng; Wei-hua Li

doi:10.1007/s11655-016-2461-x

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Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine

OriginalPaper | Updated：2021-08-27

- Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine
- Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine
- 中国结合医学杂志（英文版） 2017年23卷第6期页码：461-468
- Affiliations：
  
  1. Department of Traditional Chinese Medicine, Fujian Provincial Hospital, Fujian Medical University,Fuzhou,China
  2. Fujian University of Traditional Chinese Medicine,Fuzhou,China
  3. Department of Endocrine and Kidney, Fujian Provincial Hospital,Fuzhou,China
  4. Department of Surgical Oncology, Fujian Provincial Hospital, Fujian Medical University,Fuzhou,China
- Author bio：
- Funds：
  
  Supported by grants from Fujian Province Natural Science Fund Project (No. 2013J01277) and Financial Scheme for Young Talents Training Programme of Fujian Health Industry (No. 2013-ZQN-JC-6)
- DOI：10.1007/s11655-016-2461-x
  中图分类号：
- 纸质出版日期：2017，
  
  网络出版日期：2016-1-29，
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Luo, Jw., Meng, Xr., Yang, X. et al. Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine., Chin. J. Integr. Med. 23, 461–468 (2017). https://doi.org/10.1007/s11655-016-2461-x

Jie-wei Luo, Xiao-rong Meng, Xiao Yang, et al. Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine[J]. Chinese Journal of Integrative Medicine, 2017,23(6):461-468.
Luo, Jw., Meng, Xr., Yang, X. et al. Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine., Chin. J. Integr. Med. 23, 461–468 (2017). https://doi.org/10.1007/s11655-016-2461-x DOI：

Jie-wei Luo, Xiao-rong Meng, Xiao Yang, et al. Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine[J]. Chinese Journal of Integrative Medicine, 2017,23(6):461-468. DOI： 10.1007/s11655-016-2461-x.

摘要

To determine the gene location of two Gitelman syndrome (GS) family SLC12A3 genes and explore treatments using Chinese medicine (CM) prescriptions. 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). The three mutations occurring in proband 1 from pedigree I were Thr60Met

965-1_976del13ins12 (small indels mutation) and Ala122Ala (homozygous silent mutation). Likewise

three mutations

Asn359Lys

Thr382Met and Arg913Gln

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. 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.

Abstract

To determine the gene location of two Gitelman syndrome (GS) family SLC12A3 genes and explore treatments using Chinese medicine (CM) prescriptions. 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). The three mutations occurring in proband 1 from pedigree I were Thr60Met

965-1_976del13ins12 (small indels mutation) and Ala122Ala (homozygous silent mutation). Likewise

three mutations

Asn359Lys

Thr382Met and Arg913Gln

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. 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 syndromemutationSLC12A3 geneChinese Medicine

Keywords

Gitelman syndromemutationSLC12A3 geneChinese Medicine

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