Financiado en parte por Novo Nordisk Fonden
Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6
Astor MC, Løvås K, Wolff AS, Nedrebø B, Bratland E, Steen-Johnsen J, Husebye ES
Endocrine connections · 22 citas
Etiquetas de revisión
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Cómo se estudió
- Diseño
- Reporte de caso (clasificado por nuestro filtro de IA)
- Estudiado en
- Personas
- Resultado principal
- Marcadores de salud y funcionamiento
Quién lo pagó
- Financiación
- Financiado por la industria
- Universidad u hospital
- Universitetet i Bergen
- Empresa
- Novo Nordisk Fonden
- Gobierno
- Helsedirektoratet
- Subvenciones
- Novo Nordisk Fonden (NNF14OC0011005)
Según 3 financiadores declarados y la declaración de financiación del texto completo.
Publicación
- Publicado
- 2015-08-13 · Endocr Connect · vol. 4 · número 4 · págs. 215–222
- Editorial
- Bioscientifica
- Citado
- 35 citas · más que el 88% de estudios similares · 2.6× el promedio de su campo
- Referencias
- 42 trabajos
- Acceso
- Acceso abierto (revista) · CC-BY-NC
- Áreas de investigación
- Magnesium in Health and Disease · Hydrogen Storage and Materials · Magnesium Alloys: Properties and Applications
- Palabras clave
- Hypomagnesemia, Medicine, Missense mutation, Hypoparathyroidism, Exon, Internal medicine, Mutation, Endocrinology, Gastroenterology, Gene, Genetics, Magnesium, Biology
7 autores
- Marianne Catharina Astor🇳🇴 · autor de correspondenciaHaukeland University Hospital; University of Bergen
- Kristian Løvås🇳🇴Haukeland University Hospital; University of Bergen
- Anette S. B. Wolff🇳🇴Haukeland University Hospital; University of Bergen
- Bjørn Gunnar Nedrebø🇳🇴Haukeland University Hospital; Privatsykehuset Haugesund
- Eirik Bratland🇳🇴Haukeland University Hospital; University of Bergen
- JON STEEN-JOHNSEN🇳🇴Haukeland University Hospital; Telemark Hospital
- Eystein Sverre Husebye🇳🇴Haukeland University Hospital; University of Bergen
Resumen
El texto original del estudio, en el idioma en que se publicó.
Primary hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disorder characterized by neuromuscular symptoms in infancy due to extremely low levels of serum magnesium and moderate to severe hypocalcemia. Homozygous mutations in the magnesium transporter gene transient receptor potential cation channel member 6 (TRPM6) cause the disease. HSH can be misdiagnosed as primary hypoparathyroidism. The aim of this study was to describe the genetic, clinical and biochemical features of patients clinically diagnosed with HSH in a Norwegian cohort. Five patients in four families with clinical features of HSH were identified, including one during a national survey of hypoparathyroidism. The clinical history of the patients and their families were reviewed and gene analyses of TRPM6 performed. Four of five patients presented with generalized seizures in infancy and extremely low levels of serum magnesium accompanied by moderate hypocalcemia. Two of the patients had an older sibling who died in infancy. Four novel mutations and one large deletion in TRPM6 were identified. In one patient two linked homozygous mutations were located in exon 22 (p.F978L) and exon 23 (p.G1042V). Two families had an identical mutation in exon 25 (p.E1155X). The fourth patient had a missense mutation in exon 4 (p.H61N) combined with a large deletion in the C-terminal end of the gene. HSH is a potentially lethal condition that can be misdiagnosed as primary hypoparathyroidism. The diagnosis is easily made if serum magnesium is measured. When treated appropriately with high doses of oral magnesium supplementation, severe hypomagnesemia is uncommon and the long-term prognosis seems to be good.
Resumen vía Europe PMC. Los derechos de autor siguen siendo de los autores o la editorial (CC BY-NC).
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