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摘要
Introduction: Gitelman syndrome (GS) is an autosomal recessive primary tubular disorder caused by a defective function of the sodium chloride cotransporter (NCC), sited in the distal convoluted tubule, sensitive to thiazides and encoded by the SLC12A3 gene. GS causes a wide spectrum of clinical manifestations associated with a rather homogeneous biochemical profile characterized by hypokalemic metabolic alkalosis, hypomagnesemia, in the face of inappropriately high urinary magnesium elimination, and very low urinary calcium. The reason for the lack of phenotype - genotype correlation, the underlying genetic defect and the pathophysiological mechanisms of some manifestations are not clear. Areas covered: This review describes the genetic and molecular bases of GS, discusses the clinical and biochemical findings, including the effect on blood pressure, and provides therapeutic indications. Expert opinion: GS raises several intriguing issues. The underlying gene defect is unknown in some patients with typical manifestations of the disease, which prompts to the involvement of additional genes regulating NCC. The large phenotypic variability occurs even within members of the same family sharing the same gene mutation and similar environmental conditions. Patients with severe symptoms are difficult to control adequately in spite of sodium chloride, potassium and magnesium supplementation and the administration of potassium-sparing diuretics.
- 出版日期2016
