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Current Opinion in Nephrology and... Sep 2022Gitelman syndrome is a recessive salt-wasting disorder characterized by hypomagnesemia, hypokalemia, metabolic alkalosis and hypocalciuria. The majority of patients are... (Review)
Review
PURPOSE OF REVIEW
Gitelman syndrome is a recessive salt-wasting disorder characterized by hypomagnesemia, hypokalemia, metabolic alkalosis and hypocalciuria. The majority of patients are explained by mutations and deletions in the SLC12A3 gene, encoding the Na+-Cl--co-transporter (NCC). Recently, additional genetic causes of Gitelman-like syndromes have been identified that should be considered in genetic screening. This review aims to provide a comprehensive overview of the clinical, genetic and mechanistic aspects of Gitelman(-like) syndromes.
RECENT FINDINGS
Disturbed Na+ reabsorption in the distal convoluted tubule (DCT) is associated with hypomagnesemia and hypokalemic alkalosis. In Gitelman syndrome, loss-of-function mutations in SLC12A3 cause impaired NCC-mediated Na+ reabsorption. In addition, patients with mutations in CLCKNB, KCNJ10, FXYD2 or HNF1B may present with a similar phenotype, as these mutations indirectly reduce NCC activity. Furthermore, genetic investigations of patients with Na+-wasting tubulopathy have resulted in the identification of pathogenic variants in MT-TI, MT-TF, KCNJ16 and ATP1A1. These novel findings highlight the importance of cell metabolism and basolateral membrane potential for Na+ reabsorption in the DCT.
SUMMARY
Altogether, these findings extend the genetic spectrum of Gitelman-like electrolyte alterations. Genetic testing of patients with hypomagnesemia and hypokalemia should cover a panel of genes involved in Gitelman-like syndromes, including the mitochondrial genome.
Topics: Alkalosis; Bartter Syndrome; Gitelman Syndrome; Humans; Hypokalemia; Magnesium; Sodium; Solute Carrier Family 12, Member 3
PubMed: 35894287
DOI: 10.1097/MNH.0000000000000818 -
Journal of Pediatric Intensive Care Mar 2021Hypervolemia is a condition with an excess of total body water and when sodium (Na) intake exceeds output. It can have different causes, such as hypervolemic... (Review)
Review
Hypervolemia is a condition with an excess of total body water and when sodium (Na) intake exceeds output. It can have different causes, such as hypervolemic hyponatremia (often associated with decreased, effective circulating blood volume), hypervolemia associated with metabolic alkalosis, and end-stage renal disease. The degree of hypervolemia in critically ill children is a risk factor for mortality, regardless of disease severity. A child (under 18 years of age) with hypervolemia requires fluid removal and fluid restriction. Diuretics are able to increase or maintain urine output and thus improve fluid and nutrition management, but their benefit in preventing or treating acute kidney injury is questionable.
PubMed: 33585056
DOI: 10.1055/s-0040-1714703