Division of Nephrology, Department of Pediatrics, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan; Department of Pediatrics, Xiamen Chang Gung Hospital, China; College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Department of General Pediatrics, University Children's Hospital Münster, Münster, Germany.
Biomed J. 2022 Feb;45(1):74-87. doi: 10.1016/j.bj.2021.11.002. Epub 2021 Nov 10.
Magnesium (Mg) is an important intracellular cation and essential to maintain cell function including cell proliferation, immunity, cellular energy metabolism, protein and nucleic acid synthesis, and regulation of ion channels. Consequences of hypomagnesemia affecting multiple organs can be in overt or subtle presentations. Besides detailed history and complete physical examination, the assessment of urinary Mg excretion is help to differentiate renal from extra-renal (gastrointestinal, tissue sequestration, and shifting) causes of hypomagnesemia. Renal hypomagnesemia can be caused by an increased glomerular filtration and impaired reabsorption in proximal tubular cells, thick ascending limb of the loop of Henle or distal convoluted tubules. A combination of renal Mg wasting, familial history, age of onset, associated features, and exclusion of acquired etiologies point to inherited forms of renal hypomagnesemia. Based on clinical phenotypes, its definite genetic diagnosis can be simply grouped into specific, uncertain, and unknown gene mutations with a priority of genetic approach methods. An unequivocal molecular diagnosis could allow for prediction of clinical outcome, providing genetic counseling, avoiding unnecessary studies or interventions, and possibly uncovering the pathogenic mechanism. Given numerous identified genes responsible for Mg transport in renal hypomagnesemia over the past two decades, several potential and specific molecular and cellular therapeutic strategies to correct hypomagnesemia are promising.
镁（Mg）是一种重要的细胞内阳离子，对维持细胞功能至关重要，包括细胞增殖、免疫、细胞能量代谢、蛋白质和核酸合成以及离子通道的调节。影响多个器官的低镁血症的后果可能表现为明显或隐匿。除了详细的病史和全面的体格检查外，评估尿镁排泄有助于区分低镁血症的肾性和肾外（胃肠道、组织摄取和转移）原因。肾性低镁血症可由肾小球滤过增加和近端肾小管细胞、Henle 袢升支粗段或远曲小管重吸收受损引起。肾性镁丢失、家族史、发病年龄、相关特征以及排除后天病因提示遗传性肾性低镁血症。基于临床表型，其明确的基因诊断可以简单地分为特定、不确定和未知基因突变，并优先采用遗传方法。明确的分子诊断可以预测临床结局，提供遗传咨询，避免不必要的研究或干预，并可能揭示发病机制。鉴于过去二十年中在肾性低镁血症中发现了许多负责镁转运的基因，几种有希望的纠正低镁血症的潜在和特定的分子和细胞治疗策略。
