A narrative review: research progress on the genetic background of neonatal hyperkalemia

Background and Objective: Neonatal hyperkalemia is a common electrolyte disorder in newborns and is considered as a severe electrolyte imbalance. The normal blood potassium level is usually between 3.5–5.5 mEq/L, while neonatal hyperkalemia is defined as blood potassium levels exceeding 6 mEq/L. Common clinical causes include hypoxia, acidosis, hypothermia, neonatal hemolysis, tissue necrosis, and immature renal function or sodium-potassium pump. However, some cases of neonatal hyperkalemia are associated with genetic disorders, which are often difficult to identify or lack of clear diagnostic or therapeutic approaches. This study is to summarize the genetic background related to neonatal hyperkalemia, aiming to provide evidence to clinical diagnosis and treatment. Methods: The studies were retrieved from PubMed, Ovid-Medline, Web of Science, China National Knowledge Infrastructure and Wanfang using the title/abstract terms “Hyperkalemia”, “Potassium”, and “Neonatal Hyperkalemia”. The gene information was retrieved from OMIM using the terms “Hyperkalemia” and “Potassium”. Key Content and Findings: Neonatal hyperkalemia associated with genetic disorders mainly relates to disruptions in ion channels, the renin-angiotensin-aldosterone system (RAAS), and the hypothalamic-pituitary-adrenal (HPA) axis, which regulate mechanisms of potassium homeostasis. It can also be caused by cell rupture or cation leakage. Conclusions: Neonatal hyperkalemia is a prevalent and serious electrolyte imbalance. There are several genetic disorders that can result in hyperkalemia in newborns. When physicians encounter neonatal hyperkalemia in clinical practice, they should consider these genetic disorders based on other clinical manifestations.