Hypomagnesemia due to two novel TRPM6 mutations
-
Michelle Coulter
,
Caroline Colvin
Abstract
Background: Although most hypocalcemia with hypomagenesemia in the neonatal period is due to transient neonatal hypoparathyroidism, magnesium channel defects should also be considered.
Case: We report a case of persistent hypomagnesemia in an 8-day-old Hispanic male who presented with generalized seizures. He was initially found to have hypomagnesemia, hypocalcemia, hyperphosphatemia and normal parathyroid hormone. Serum calcium normalized with administration of calcitriol and calcium carbonate. Serum magnesium improved with oral magnesium sulfate. However, 1 week after magnesium was discontinued, serum magnesium declined to 0.5 mg/dL. Magnesium supplementation was immediately restarted, and periodic seizure activity resolved after serum magnesium concentration was maintained above 0.9 mg/dL. The child was eventually weaned off oral calcium and calcitriol with persistent normocalemia. However, supraphysiologic oral magnesium doses were necessary to prevent seizures and maintain serum magnesium at the low limit of normal.
Methods and results: As his clinical presentation suggested primary renal magnesium wastage, TRPM6 gene mutations were suspected; subsequent genetic testing revealed the child to be compound heterozygous for TRPM6 mutations.
Conclusion: Two novel TRPM6 mutations are described with a new geographic and ethnic origin. This case highlights the importance of recognizing disorders of magnesium imbalance and describing new genetic mutations.
References
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©2015 by De Gruyter
Artikel in diesem Heft
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Artikel in diesem Heft
- Frontmatter
- Highlight: Turner syndrome
- Turner syndrome – working together with patients and their families
- Turner syndrome patients with bicuspid aortic valves and renal malformations exhibit abnormal expression of X-linked inhibitor of apoptosis protein (XIAP)
- Inhibin B in adolescents and young adults with Turner syndrome
- Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience
- Retrospective evaluation of pubertal development and linear growth of girls with Turner Syndrome treated with oral and transdermal estrogen
- Turner syndrome in Albania and the efficacy of its treatment with growth hormone
- Review articles
- The relation of vitamin D status with metabolic syndrome in childhood and adolescence: an update
- Putting the pieces together: cryptorchidism – do we know everything?
- Original articles
- Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development
- Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing
- Association of physical activity level with depression, anxiety, and quality of life in children with type 1 diabetes mellitus
- Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment
- The effect of intraoperative administration of dexamethasone for PONV prophylaxis on perioperative blood glucose level in obese and normal weight children
- Are obesity and metabolic syndrome associated with plasma adropin levels in children?
- Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy
- Comparison of energy expenditure, body composition, metabolic disorders, and energy intake between obese children with a history of craniopharyngioma and children with multifactorial obesity
- Effect of serum cholesterol on bone mineral density in normal-weight children and adolescents
- Assessment of bone turnover markers and bone mineral density in normal short boys
- Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency?
- Risk factors affecting the development of nephrocalcinosis, the most common complication of hypophosphatemic rickets
- Children with hyperthyroidism younger than age 7 require higher mg/kg doses of methimazole to normalize free T4 compared to older children
- Effects of bisphosphonates to treat osteoporosis in children with cerebral palsy: a meta-analysis
- AMH levels at central precocious puberty and premature thelarche: is it a parameter?
- Validating Paediatric Morphometrics: body proportion measurement using photogrammetric anthropometry
- Treatment of central precocious puberty and early puberty with GnRH analog in girls with Williams-Beuren syndrome
- Short communication
- Pilot study on the dietary habits and lifestyles of girls with idiopathic precocious puberty from the city of Rome: potential impact of exposure to flame retardant polybrominated diphenyl ethers
- Patient reports
- Hypomagnesemia due to two novel TRPM6 mutations
- A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome
- Kocher-Debré-Semelaigne syndrome with rhabdomyolysis and increased creatinine
- Anaphylaxis to gonadorelin acetate in a girl with central precocious puberty
- Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia
