About: Gitelman syndrome: novel mutation and long-term follow-up     Goto   Sponge   NotDistinct   Permalink

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Description
  • We report a case of Gitelman syndrome presenting with fatigue, paresthesias, weakness of limbs and neck muscles since 2.5 years of age. Investigations showed hypokalemia and hypomagnesemia with urinary magnesium wasting. Genetic analysis revealed the presence of a novel homozygous mutation in the SLC12A3 gene (c.2879_2883+9ins14bp, p.Val 960 Glu fsx12). Management with potassium and magnesium supplements and spironolactone resulted in a significant improvement in symptoms. Over a follow-up of 11 years, the patient showed satisfactory growth and physical development.
  • We report a case of Gitelman syndrome presenting with fatigue, paresthesias, weakness of limbs and neck muscles since 2.5 years of age. Investigations showed hypokalemia and hypomagnesemia with urinary magnesium wasting. Genetic analysis revealed the presence of a novel homozygous mutation in the SLC12A3 gene (c.2879_2883+9ins14bp, p.Val 960 Glu fsx12). Management with potassium and magnesium supplements and spironolactone resulted in a significant improvement in symptoms. Over a follow-up of 11 years, the patient showed satisfactory growth and physical development. (en)
Title
  • Gitelman syndrome: novel mutation and long-term follow-up
  • Gitelman syndrome: novel mutation and long-term follow-up (en)
skos:prefLabel
  • Gitelman syndrome: novel mutation and long-term follow-up
  • Gitelman syndrome: novel mutation and long-term follow-up (en)
skos:notation
  • RIV/00064165:_____/12:13583!RIV13-MZ0-00064165
http://linked.open...avai/predkladatel
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • V
http://linked.open...iv/cisloPeriodika
  • 2
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 138170
http://linked.open...ai/riv/idVysledku
  • RIV/00064165:_____/12:13583
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • Hypokalemia; Hypomagnesemia; SLC12A3 gene; na-cl cotransporter (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • JP - Japonsko
http://linked.open...ontrolniKodProRIV
  • [247B0A1CB8BF]
http://linked.open...i/riv/nazevZdroje
  • Clinical and Experimental Nephrology
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 16
http://linked.open...iv/tvurceVysledku
  • Lněnička, Petr
  • Bagga, A.
  • Sinha, A.
  • Basu, B.
  • Gulati, A.
  • Hari, P.
http://linked.open...ain/vavai/riv/wos
  • 000303063000015
issn
  • 1342-1751
number of pages
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