Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto’s Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations
Gitelman syndrome (GS) is an autosomal recessive inherited salt-losing renal tubular disease, which is caused by a pathogenic mutation of SLC12A3 encoding thiazide-sensitive Na-Cl cotransporter, which leads to disturbance of sodium and chlorine reabsorption in renal distal convoluted tubules, result...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Hindawi Limited
2021-01-01
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Series: | BioMed Research International |
Online Access: | http://dx.doi.org/10.1155/2021/9973161 |