Genetic background of neonatal hypokalemia.
Neonatal hypokalemia (defined as a serum potassium level <3.5 mEq/L) is the most common electrolyte disorder encountered in clinical practice. In addition to common secondary causes, primary genetic etiologies are also closely associated with hypokalemia. Currently, a systematic characterization of...
| Publicado en: | Pediatric Nephrology Vol. 40; no. 2; pp. 301 - 318 |
|---|---|
| Autores principales: | , |
| Formato: | pictorial review tables/charts Journal Article |
| Publicado: |
Springer Nature
Feb2025
|
| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=181827932&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 181827932 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 0931041X EF1 jtl: Pediatric Nephrology issn: 0931041X maglogo: N pubinfo: dt: Feb2025 vid: 40 iid: 2 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 181827932 179661779 181827932 181827932 10.1007/s00467-024-06492-5 181827932 ppf: 301 ppct: 17 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Genetic background of neonatal hypokalemia. aug: au: Fang, Chuchu Zhou, Wenhao affil: https://ror.org/05n13be63 Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China sug: subj: Hypokalemia Familial and Genetic Potassium Blood Potassium Urine Infant, Newborn Genes Kidney Intestines Muscle, Skeletal Bartter's Syndrome Diarrhea Hypokalemic Periodic Paralysis Mutation Infant, Newborn: birth-1 month ab: Neonatal hypokalemia (defined as a serum potassium level <3.5 mEq/L) is the most common electrolyte disorder encountered in clinical practice. In addition to common secondary causes, primary genetic etiologies are also closely associated with hypokalemia. Currently, a systematic characterization of these genetic disorders is lacking, making early recognition challenging and clinical management uncertain. This review will aid clinicians by summarizing the genetic background of neonatal hypokalemia from two aspects: (1) increased excretion of K+, whereby genetic factors primarily lead to increased renal Na+ influx, decreased H+ efflux, or reduced Cl− influx, ultimately resulting in increased K+ efflux; and (2) decreased extracellular distribution of K+, whereby genetic factors result in abnormalities in transmembrane ion channels, reducing outward potassium currents or generating inward cation leak currents. We describe over ten genetic diseases associated with neonatal hypokalemia, which involve pathogenic variants in dozens of genes and affect multiple target organs, including the kidneys, intestines, and skeletal muscle. For example, in the renal tubules, pathogenic variants in the SLC12A1 gene encoding the Na+-K+-2Cl- cotransporter lead to renal K+ loss, causing Bartter syndrome type I; in intestinal epithelial cells, pathogenic variants in the SLC26A3 gene result in a defective Cl⁻-HCO₃⁻ exchanger, causing congenital chloride diarrhea; and in skeletal muscle, pathogenic variants in the CACNA1S gene impact membrane calcium ion channels resulting in hypokalemic periodic paralysis. Given the wide variety of organs and genetic alterations that can contribute to neonatal hypokalemia, we believe this review will provide valuable insights for clinical diagnosis and treatment. pubtype: Academic Journal doctype: pictorial review tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
|---|