Hereditary hypomagnesemias in children: pathogenesis, clinical picture and treatment approaches

Hypomagnesaemias are the diseases characterized by the reduced level of magnesium in the body. The first mention of them appeared in the early XX century when cases in children were initially described as conditions accompanied by painful twitching in the muscles, weakness and heart rhythm disturbances, the reasons for which remained unknown for a long time. The scientific research in recent decades has only made it possible to decipher the diseases’ pathogenesis mechanisms. Primary hypomagnesaemias are hereditary monogenic diseases in which, as a result of a violation of magnesium metabolism in the body, its concentration decreases and the main clinical manifestations of the disease develop. The clinical picture of hypomagnesemia in children can be diverse and nonspecific. Early symptoms are manifested in the form of short-term involuntary painful contractions of muscles or muscle groups, weakness, cardiac arrhythmia and fatigue. As the disease progresses, more rather serious symptoms such as stunted growth, psychomotor development and epileptic seizures may occur. The severity of clinical manifestations of hereditary hypomagnesaemias correlates with the degree and duration of magnesium deficiency: from general weakness and crumpy syndrome to the development of depression of consciousness and in some cases of an unfavorable outcome. The main methods for confirmatory diagnosis of genetically determined hypomagnesaemias are molecular genetic methods. Authors represent bibliographical review and recent updates on known primary hypomagnesaemias in terms of mechanisms of pathogenesis and clinical presentation as well as their own familial case description of hypomagnesaemia in children.