A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings

Alparslan, Caner; Öncel, Elif Perihan; Akbay, Sinem; Alaygut, Demet; Mutlubaş, Fatma; Tatlı, Mustafa Mansur; Konrad, Martin; Yavaşcan, Önder; Kasap-Demir, Belde

doi:10.24953/turkjped.2018.01.011

Cited by 4 publications

(4 citation statements)

References 11 publications

(28 reference statements)

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“…Claudins (CLDN), transmembrane proteins, which are expressed at tight junctions of renal epithelial cells, play a significant role in the reabsorption of this element. Mutations in these genes cause renal hypomagnesemia in combination with myopia and lens subluxation (Alparslan et al 2018;Perdomo-Ramirez et al 2019). The sensitive receptor of the CaSR gene (Calcium-Sensing Receptor), which is located in the renal tubules and in the parathyroid gland, also participates in regulating the magnesium-calcium metabolism.…”

Section: Resultsmentioning

confidence: 99%

Possible prospects for using modern magnesium preparations for increasing stress resistance during COVID-19 pandemic

Sankova

Kytko

Meylanova

et al. 2020

RRP

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Introduction: The relevance of the issue of increasing stress resistance is due to a significant deterioration in the mental health of the population caused by the special conditions of the disease control and prevention during the COVID-19 pandemic. Recently, the decisive role in the severity of clinico-physiological manifestations of maladjustment to stress is assigned to magnesium ions. The aim of the work was to study the magnesium importance in the body coping mechanisms under stress for the pathogenetic substantiation of the magnesium correction in an unfavorable situation of disease control and prevention during the COVID-19 pandemic. Materials and methods: The theoretical basis of this scientific and analytical review was an analysis of modern Russian and foreign literature data posted on the electronic portals MEDLINE, PubMed-NCBI, Scientific Electronic Library eLIBRARY.RU, Google Academy, and CyberLeninka. Results and discussion: It was shown that the total magnesium level in the body plays the indicator role of the body functional reserves. Acute and chronic stresses significantly increase the magnesium consumption and cause a decrease in its body content. Magnesium deficiency is one of the main pathogenetic mechanisms of reducing stress resistance and adaptive body reserves. Arising during the COVID-19 pandemic, increased nervous and emotional tension, the lack of emotional comfort and balance can lead to the onset or deterioration of magnesium deficiency, which manifests itself in mental burnout and depletion of adaptive capacities. The inability to synthesize magnesium in the body necessitates including foodstuffs high in magnesium in the population diet during this period. The appointment of magnesium preparations is pathogenetically justified with moderate and severe magnesium deficiency. This therapy should take into account the major concomitant diseases, severity of magnesium deficiency, and a patient’s age. Conclusion: magnesium correction, carried out during the COVID-19 pandemic, will contribute to increasing stress resistance, preventing mental diseases and improving the population’s life quality.

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Section: Resultsmentioning

confidence: 99%

Possible prospects for using modern magnesium preparations for increasing stress resistance during COVID-19 pandemic

Sankova

Kytko

Meylanova

et al. 2020

RRP

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“…Ambas mutaciones son responsables de un fenotipo renal similar pero adicionalmente las mutaciones de CLDN19 generan defectos oculares (47). A diferencia de la ATRD, del síndrome Amelogénesis imperfecta-nefrocalcinosis y síndrome de Raine, que también presentan en su fenotipo una nefrocalcinosis medular, la FHHNC es una condición patológica que conduce rápidamente a una enfermedad renal terminal (48).…”

Section: Hipomagnesemia Primaria Familiar Con Hipercalciuria Y Nefroc...unclassified

Amelogénesis imperfecta

KOSTLAN¹

2021

Rev. nac. odontol.

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Introducción: La Amelogénesis Imperfecta (AI) constituye un grupo heterogéneo de alteraciones que impactan la estructura del esmalte dental de origen genético. Esta patología producto de cambios fisiológicos durante la odontogénesis, modifica la estructura y apariencia clínica del esmalte, otorgándole un aspecto delgado y de menor resistencia. Se ha descrito que la AI puede aparecer de manera aislada o de manera sindrómica. Propósito: Describir los síndromes que impactan el sistema renal y cursan con amelogénesis imperfecta de acuerdo a la evidencia científica actual. Método: se realizó una búsqueda electrónica de literatura hasta septiembre de 2019, con los términos Amelogenesis imperfecta, renal AND/OR Amelogenesis Imperfecta y Syndrome AND/OR Amelogenesis Imperfecta. Resultados: Fueron pre-seleccionando 1660 artículos, de los cuales 52 fueron tenidos en cuenta para esta revisión. Se identificó que el síndrome Amelogénesis imperfecta-Nefrocalcinosis, Síndrome de Raine, Síndrome de Bartter, Acidosis tubular renal distal y la Hipomagnesemia primaria familiar con hipercalciuria y nefrocalcinosis son afecciones renales que cursan concomitantemente con un fenotipo dental. Conclusión: Esta revisión ha permitido demostrar que las alteraciones del esmalte dental tipo AI constituye un signo de alerta para entidades patológicas que impactan el funcionamiento renal. Se recomienda que los profesionales de la odontología, una establecido el diagnosticado de amelogénesis imperfecta, consideren realizar la remisión de estos pacientes a un servicio de nefrología.

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“…Age at onset ranges from 0 to more to 30 years for CLDN16 [45,49,50,[52][53][54][55][56] and CLDN19 mutations [50,51,57,58] and the diagnosis can be delayed.…”

Section: Phenotypementioning

confidence: 99%

“…To date, sixty-nine CLDN16 disease-causing variants have been described including missense/nonsense variants (53), splice site variants (5), small deletions (5), small insertions (2), small indels (2), gross deletions (1), complex mutation (1) ( Table 4). c.427+5G>A IVS2 ds G-A +5 DM [26] c.593-2A>G IVS3 as A-G -2 DM [49,59] c.784+1G>T IVS4 ds G-T +1 DM [45] c.785-14T>G IVS4 as T-G -14 DM CLDN16 mutations are located in the two ECSs but also affect the TMDs and the cytoplasmic regions.…”

Section: Variants/pathogenesismentioning

confidence: 99%

Claudins in Renal Physiology and Pathology

Prot-Bertoye

Houillier

2020

Genes

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Claudins are integral proteins expressed at the tight junctions of epithelial and endothelial cells. In the mammalian kidney, every tubular segment express a specific set of claudins that give to that segment unique properties regarding permeability and selectivity of the paracellular pathway. So far, 3 claudins (10b, 16 and 19) have been causally traced to rare human syndromes: variants of CLDN10b cause HELIX syndrome and variants of CLDN16 or CLDN19 cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis. The review summarizes our current knowledge on the physiology of mammalian tight junctions and paracellular ion transport, as well as on the role of the 3 above-mentioned claudins in health and disease. Claudin 14, although not having been causally linked to any rare renal disease, is also considered, because available evidence suggests that it may interact with claudin 16. Some single-nucleotide polymorphisms of CLDN14 are associated with urinary calcium excretion and/or kidney stones. For each claudin considered, the pattern of expression, the function and the human syndrome caused by pathogenic variants are described.

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A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings

Cited by 4 publications

References 11 publications

Possible prospects for using modern magnesium preparations for increasing stress resistance during COVID-19 pandemic

Possible prospects for using modern magnesium preparations for increasing stress resistance during COVID-19 pandemic

Amelogénesis imperfecta

Claudins in Renal Physiology and Pathology

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