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  1. Article ; Online: Hypomagnesemia due to two novel TRPM6 mutations.

    Coulter, Michelle / Colvin, Caroline / Korf, Bruce / Messiaen, Ludwine / Tuanama, Benjamin / Crowley, Michael / Crossman, David K / McCormick, Kenneth

    Journal of pediatric endocrinology & metabolism : JPEM

    2015  Volume 28, Issue 11-12, Page(s) 1373–1378

    Abstract: ... for TRPM6 mutations.: Conclusion: Two novel TRPM6 mutations are described with a new geographic and ... describing new genetic mutations. ... Background: Although most hypocalcemia with hypomagenesemia in the neonatal period is due ...

    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.
    MeSH term(s) Humans ; Hyperphosphatemia/blood ; Hyperphosphatemia/genetics ; Hypocalcemia/blood ; Hypocalcemia/genetics ; Hypoparathyroidism/blood ; Hypoparathyroidism/genetics ; Infant, Newborn ; Magnesium/blood ; Male ; Mutation ; Renal Tubular Transport, Inborn Errors/blood ; Renal Tubular Transport, Inborn Errors/genetics ; TRPM Cation Channels/genetics
    Chemical Substances TRPM Cation Channels ; TRPM6 protein, human ; Magnesium (I38ZP9992A)
    Language English
    Publishing date 2015-11-01
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 1231070-0
    ISSN 2191-0251 ; 0334-018X
    ISSN (online) 2191-0251
    ISSN 0334-018X
    DOI 10.1515/jpem-2014-0394
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2258: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article: Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review.

    Han, Yiran / Zhao, Yajuan / Wang, Hua / Huo, Liang

    Frontiers in pediatrics

    2022  Volume 10, Page(s) 912524

    Abstract: ... of our study were 18 and 26 months old at onset.: Conclusion: We identified two novel TRPM6 mutations ... recessive disease due to biallelic TRPM6 mutations. Although the reports of HSH caused by TRPM6 mutations ... A mutation in TRPM6 was much later than other mutations and would be much less serious. ...

    Abstract Background: Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease due to biallelic TRPM6 mutations. Although the reports of HSH caused by TRPM6 mutations are not very rare, the age of onset in previously reported HSH cases were <1 year.
    Methods: We collected and analyzed the clinical data of twin brothers with onset age over 1 year old and performed whole exome sequencing in the patients and their parents. Confirmed by Sanger sequencing, missense mutation was analyzed
    Results: The twin patients had canonical HSH phenotype with compound novel TRPM6 mutations, p.T87K and c.705dupT, inherited from their father and mother, respectively. T87 is a highly conserved site and T87K is predicted to cause hydrogen bond disruption. We identified 26 articles published between May 28, 2002 to December 31, 2021 which reported a total of 88 patients with TRPM6 mutation. We found that the most common clinical phenotypes were hypomagnesemia, hypocalcemia, and convulsions. However, the age of onset in HSH patients almost always occurred under 12 months old, the twin patients of our study were 18 and 26 months old at onset.
    Conclusion: We identified two novel TRPM6 mutations in a Chinses family with HSH, and showed that the age of onset with c.704c-c.705(exon7)insT and c.260(exon4)C>A mutation in TRPM6 was much later than other mutations and would be much less serious.
    Language English
    Publishing date 2022-07-12
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2022.912524
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6.

    Astor, Marianne C / Løvås, Kristian / Wolff, Anette S B / Nedrebø, Bjørn / Bratland, Eirik / Steen-Johnsen, Jon / Husebye, Eystein S

    Endocrine connections

    2015  Volume 4, Issue 4, Page(s) 215–222

    Abstract: ... 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 ... cation channel member 6 (TRPM6) cause the disease. HSH can be misdiagnosed as primary hypoparathyroidism ...

    Abstract 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.
    Language English
    Publishing date 2015-08-13
    Publishing country England
    Document type Journal Article
    ZDB-ID 2668428-7
    ISSN 2049-3614
    ISSN 2049-3614
    DOI 10.1530/EC-15-0066
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes.

    Guran, Tulay / Akcay, Teoman / Bereket, Abdullah / Atay, Zeynep / Turan, Serap / Haisch, Lea / Konrad, Martin / Schlingmann, Karl P

    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

    2012  Volume 27, Issue 2, Page(s) 667–673

    Abstract: ... hypomagnesaemia with secondary hypocalcaemia (HSH) due to a TRPM6 mutation in six patients and familial ... hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) due to a CLDN16 mutation in one patient ... between these most prevalent forms of hereditary magnesium deficiency. While TRPM6 mutations underlying ...

    Abstract Background: Recent identification and characterization of novel renal Mg(2+) transporters and ion channels have greatly increased our understanding of the normal physiology of renal magnesium handling.
    Methods: The present study deals with the clinical and molecular characterization of eight Turkish children (median age 10.6 years, range 3-16.2 years, five boys and three girls) with primary hypomagnesaemia from six families.
    Results: All patients initially presented with tetany and convulsions. Laboratory evaluation yielded severely low serum magnesium levels and low serum calcium levels in all patients. While six patients exhibited inadequately low parathyroid hormone levels, the two remaining patients showed hyperparathyroidism, hypercalciuria and nephrocalcinosis. Genetic studies revealed familial hypomagnesaemia with secondary hypocalcaemia (HSH) due to a TRPM6 mutation in six patients and familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) due to a CLDN16 mutation in one patient.
    Conclusions: Among recently identified magnesium-wasting disorders, HSH and FHHNC represent two major entities also in the Turkish population. Besides clinical course and laboratory diagnosis of hypomagnesaemia, the detection of renal calcium wasting and parathyroid function are crucial to differentiate between these most prevalent forms of hereditary magnesium deficiency. While TRPM6 mutations underlying HSH almost uniformly lead to a complete loss of function of the TRPM6 protein, the severity of FHHNC phenotype depends on the residual function of the mutated claudin-16 protein.
    MeSH term(s) Adolescent ; Age Distribution ; Child ; Child, Preschool ; Claudins/genetics ; Cohort Studies ; DNA Mutational Analysis ; Female ; Genetic Predisposition to Disease ; Humans ; Hypercalciuria/diagnosis ; Hypercalciuria/epidemiology ; Hypercalciuria/genetics ; Incidence ; Infant ; Infant, Newborn ; Male ; Mutation ; Nephrocalcinosis/diagnosis ; Nephrocalcinosis/epidemiology ; Nephrocalcinosis/genetics ; Pedigree ; Phenotype ; Renal Tubular Transport, Inborn Errors/diagnosis ; Renal Tubular Transport, Inborn Errors/epidemiology ; Renal Tubular Transport, Inborn Errors/genetics ; Risk Assessment ; Severity of Illness Index ; Sex Distribution ; TRPM Cation Channels/genetics ; Turkey/epidemiology
    Chemical Substances Claudins ; TRPM Cation Channels ; TRPM6 protein, human ; claudin 16
    Language English
    Publishing date 2012-02
    Publishing country England
    Document type Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 90594-x
    ISSN 1460-2385 ; 0931-0509
    ISSN (online) 1460-2385
    ISSN 0931-0509
    DOI 10.1093/ndt/gfr300
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2198: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 329: Show issues

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