Generaliserede kramper som debutsymptom ved Gitelmans syndrom

Carolina Hvelplund; Eva Mosfeldt Jeppesen; Henrik B Mortensen; Peter Christiansen; Carolina Hvelplund; Eva Mosfeldt Jeppesen; Henrik B Mortensen; Peter Christiansen

Generaliserede kramper som debutsymptom ved Gitelmans syndrom

Carolina Hvelplund, Eva Mosfeldt Jeppesen, Henrik B Mortensen, Peter Christiansen, Carolina Hvelplund, Eva Mosfeldt Jeppesen, Henrik B Mortensen, Peter Christiansen

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

1 Citationer (Scopus)

Abstract

Gitelman's syndrome is a rare autosomal recessive syndrome presenting with hypocalciuria, hypomagnesiemia and hypokalemic metabolic alkalosis. This case reports a patient admitted with generalized seizures with the above-mentioned biochemical abnormalities, thus representing a rare onset of Gitelman's syndrome which - to our knowledge - has not been described previously. The patient had a homozygote deletion of the CLC-KB gene, CLCNKB. The case was successfully treated by correcting hypokalemia and hypomagnesiemia with supplemental potassium and magnesium.
Udgivelsesdato: 2009-Mar-2

Bidragets oversatte titel	Generalized seizures as onset of Gitelman's syndrome
Originalsprog	Dansk
Tidsskrift	Ugeskrift for læger
Vol/bind	171
Udgave nummer	10
Sider (fra-til)	818
Antal sider	1
ISSN	0041-5782
Status	Udgivet - 2009

Bibliografisk note

Keywords: Adolescent; Diagnosis, Differential; Female; Gitelman Syndrome; Humans; Magnesium; Potassium; Seizures

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Citationsformater

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title = "Generaliserede kramper som debutsymptom ved Gitelmans syndrom",

abstract = "Gitelman's syndrome is a rare autosomal recessive syndrome presenting with hypocalciuria, hypomagnesiemia and hypokalemic metabolic alkalosis. This case reports a patient admitted with generalized seizures with the above-mentioned biochemical abnormalities, thus representing a rare onset of Gitelman's syndrome which - to our knowledge - has not been described previously. The patient had a homozygote deletion of the CLC-KB gene, CLCNKB. The case was successfully treated by correcting hypokalemia and hypomagnesiemia with supplemental potassium and magnesium. Udgivelsesdato: 2009-Mar-2",

author = "Carolina Hvelplund and Jeppesen, {Eva Mosfeldt} and Mortensen, {Henrik B} and Peter Christiansen and Carolina Hvelplund and Jeppesen, {Eva Mosfeldt} and Mortensen, {Henrik B} and Peter Christiansen",

note = "Keywords: Adolescent; Diagnosis, Differential; Female; Gitelman Syndrome; Humans; Magnesium; Potassium; Seizures",

year = "2009",

language = "Dansk",

volume = "171",

pages = "818",

journal = "Ugeskrift for l{\ae}ger",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

number = "10",

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TY - JOUR

T1 - Generaliserede kramper som debutsymptom ved Gitelmans syndrom

AU - Hvelplund, Carolina

AU - Jeppesen, Eva Mosfeldt

AU - Mortensen, Henrik B

AU - Christiansen, Peter

AU - Hvelplund, Carolina

AU - Jeppesen, Eva Mosfeldt

AU - Mortensen, Henrik B

AU - Christiansen, Peter

N1 - Keywords: Adolescent; Diagnosis, Differential; Female; Gitelman Syndrome; Humans; Magnesium; Potassium; Seizures

PY - 2009

Y1 - 2009

N2 - Gitelman's syndrome is a rare autosomal recessive syndrome presenting with hypocalciuria, hypomagnesiemia and hypokalemic metabolic alkalosis. This case reports a patient admitted with generalized seizures with the above-mentioned biochemical abnormalities, thus representing a rare onset of Gitelman's syndrome which - to our knowledge - has not been described previously. The patient had a homozygote deletion of the CLC-KB gene, CLCNKB. The case was successfully treated by correcting hypokalemia and hypomagnesiemia with supplemental potassium and magnesium. Udgivelsesdato: 2009-Mar-2

AB - Gitelman's syndrome is a rare autosomal recessive syndrome presenting with hypocalciuria, hypomagnesiemia and hypokalemic metabolic alkalosis. This case reports a patient admitted with generalized seizures with the above-mentioned biochemical abnormalities, thus representing a rare onset of Gitelman's syndrome which - to our knowledge - has not been described previously. The patient had a homozygote deletion of the CLC-KB gene, CLCNKB. The case was successfully treated by correcting hypokalemia and hypomagnesiemia with supplemental potassium and magnesium. Udgivelsesdato: 2009-Mar-2

M3 - Tidsskriftartikel

SN - 0041-5782

VL - 171

SP - 818

JO - Ugeskrift for læger

JF - Ugeskrift for læger

IS - 10

ER -