Mild hypotonia and recurrent seizures in an 8-month-old boy: Answers

Özlü, Sare Gülfem; Kasapkara, Çiğdem Seher; Ceylaner, Serdar; Nergız, Meryem Erat; Alan, Başak; Yılmaz, Songül; Kurt, Ayşegül Neşe Çıtak

doi:10.1007/s00467-019-04236-4

Cited by 5 publications

(2 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It has been shown that the mutations previously identified in patients with HSH are not localized in a specific region and may be distributed across many areas of the TRPM6 protein ( 3 , 9 , 14 ). To date, 11 different mutations have been identified in 17 Turkish patients ( Table 2 ) ( 9 , 14 , 15 , 20 , 21 , 22 ). The most common TRPM6 mutations in Turkish patients were c.5775A>G (in five cases from three non-consanguineous families), c.469G>T (in three cases from three family with), and c.3158A>G (in three cases from two non-consanguineous families).…”

Section: Discussionmentioning

confidence: 99%

Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia

Bayramoğlu

Keskin

Aycan

et al. 2021

Jcrpe

View full text Add to dashboard Cite

Objective: Familial hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disease caused by a mutation in the transient receptor potential melastatin 6 ( TRPM6 ) gene and is characterized by selective magnesium malabsorption. Affected cases are usually diagnosed during infancy and usually present with seizures due to hypocalcemia and hypomagnesemia. Irreversible neurological deficits and arrhythmias can be observed without appropriate treatment. The aim was to evaluate the long-term follow-up of patients with genetically confirmed HSH. Methods: A total of six patients with HSH, two of whom were siblings, were included. Age at diagnosis, clinical, laboratory and follow-up data on admission were recorded. All 39 exons of the TRPM6 gene and flanking exon-intron junctions from genomic DNA were amplified and sequenced in all cases. Results: The median (range) follow-up duration was 12.1 (7.6-21.7) years. All cases were diagnosed in infancy. Four different mutations, three of which had not been previously reported, were detected in the TRPM6 gene. Treatment compliance was good and there were no severe complications in the long-term follow-up of cases. However, mental retardation, specific learning difficulty and attention deficit/hyperactive disorder were observed as comorbidities. Conclusion: Of the four different TRPM6 mutations in this small cohort, three had not been previously reported. The long-term prognosis of HSH appears to be good, given early diagnosis and good treatment compliance. This long-term follow-up and prognostic data and the three novel mutations will contribute to the published evidence concerning this rare condition, HSH, and it is hoped will prevent negative outcomes.

show abstract

Section: Discussionmentioning

confidence: 99%

Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia

Bayramoğlu

Keskin

Aycan

et al. 2021

Jcrpe

View full text Add to dashboard Cite

show abstract

“…In the acute symptomatic situation of severely hypomagnesemic patient, intravenous Mg 2+ supplementation is so critical (1). The optimal rise in serum Mg 2+ concentration often improves symptoms, such as seizures and secondary hypocalcemia, despite the fact that normal blood Mg 2+ values are rarely reached (2,10). Extended correction of the hypomagnesemia is generally delayed because of the gastro-intestinal side effects frequently associated with oral Mg 2+ supplementation.…”

Section: U N C O R R E C T E D P R O O Fmentioning

confidence: 99%

Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation

Yücel

Sel

Kasapkara

et al. 2021

Jcrpe

Self Cite

View full text Add to dashboard Cite

What's known on this topic? Hypomagnesemia is one of the causes of hypocalcemia. Enteral replacement is the key in the treatment but the treatment should be individualized for each patient. Normalization of hypomagnesemia is not always easy and should not be the aim of the treatment. What this study adds? The genetic analysis revealed a novel frame shift variant in the transient receptor potential melastatin 6 genes. The magnesium levels varied during the treatment with different preparations of medication. The treatment should be individualized.

show abstract

Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature

et al. 2023

View full text Add to dashboard Cite

Mild hypotonia and recurrent seizures in an 8-month-old boy: Answers

Cited by 5 publications

References 14 publications

Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia

Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia

Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation

Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature

Contact Info

Product

Resources

About