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[Primary hypomagnesemia. Clinical, diagnostic and therapeutic studies in three children (author's transl)]
Insights
Primary hypomagnesemia in children presents with severe hypocalcemia and requires significant oral magnesium (Mg) for treatment. This condition, characterized by reduced Mg absorption, appears to be inherited in an autosomal-recessive pattern.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Nutritional Science
Background:
- Primary hypomagnesemia is a rare disorder affecting magnesium (Mg) balance.
- Early diagnosis and intervention are crucial for managing associated complications like hypocalcemia.
Observation:
- Three pediatric cases of primary hypomagnesemia presented with severe hypocalcemia within the first month of life.
- Intravenous calcium and vitamin D therapies were ineffective.
- Reduced intestinal absorption and whole-body retention of orally administered magnesium were observed.
Findings:
- Intravenous magnesium administration rapidly resolved tetany and seizures.
- Sustained oral magnesium substitution (42-85 mmol/day) was required to normalize serum magnesium levels.
- Patients exhibited normal psychomotor development, with height and weight around the 3rd percentile.
- Oral Mg therapy occasionally led to fluid stools.
Implications:
- Primary hypomagnesemia necessitates lifelong magnesium supplementation.
- Autosomal-recessive inheritance is proposed for primary hypomagnesemia based on family studies and literature review.
- Understanding the genetic basis and absorption defects is key for improved management strategies.
Abstract:
Three children with primary hypomagnesemia are described. First symptoms of the disease were observed, when the children were 35, 19, and 20 days old, resp. The hypomagnesemia was accompanied by a severe hypocalcemia. Therapeutic trials with high doses of calcium given intravenously and vitamin D were without effect on the symptoms. The whole body retention and intestinal resorption of orally administered 28-Mg was greatly reduced in all three patients compared to healthy adults. Symptoms of tetany and seizures ceased immediately after intravenous application of magnesium. An oral Mg substitution with 42--85 mmol per day was necessary to maintain subnormal to normal serum magnesium levels. The patients are now 5, 4 3/12 and 1 5/12 years old, resp. Psychomotor development in all three children is normal. Height and weight are in the lower normal range around the 3rd percentile, while the oral Mg substitution sometimes caused frequent fluid stools. By family studies from these patients and from the literature an autosomal-recessive inheritance for primary hypomagnesemia is proposed.