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The McLeod syndrome without acanthocytes
J Klempir, J Roth, K Zarubova, M Pisacka, N Spackova, L Tilley
Jazyk angličtina Země Velká Británie
Typ dokumentu kazuistiky
Grantová podpora
NR8937
MZ0
CEP - Centrální evidence projektů
- MeSH
- akantocyty metabolismus patologie MeSH
- chorea genetika komplikace metabolismus MeSH
- dehydratasy krev MeSH
- kreatinkinasa krev MeSH
- krevní skupiny - systém Kell krev MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace MeSH
- poruchy pohlavních chromozomů MeSH
- transportní systémy pro neutrální aminokyseliny genetika MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
A 45-year-old man developed chorea, behavioural changes, moderate amyotrophy and polyneuropathy. Hypertrophic cardiomyopathy and increased serum lactate dehydrogenase and creatine kinase (CK) were found. Acanthocytes were not detected. The absence of XK protein and faintly expressed Kell antigens on erythrocytes were found. Genetic test revealed a R133X mutation of the XK gene, confirming the McLeod syndrome. After 7 years he suddenly developed delirium followed by severe hypoglycaemia, hyperthermia, rhabdomyolysis, hepatic and renal failure. Malignant arrhythmia caused death.
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- 040 __
- $a ABA008 $b cze $c ABA008 $d ABA008 $e AACR2
- 041 0_
- $a eng
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- $a xxk
- 100 1_
- $a Klempíř, Jiří $7 xx0081730
- 245 14
- $a The McLeod syndrome without acanthocytes / $c J Klempir, J Roth, K Zarubova, M Pisacka, N Spackova, L Tilley
- 314 __
- $a Department of Neurology, 1st Medical Faculty, Charles University, Katerinska 30, 12000 Prague 2, Czech Republic. jiri.klempir@seznam.cz
- 520 9_
- $a A 45-year-old man developed chorea, behavioural changes, moderate amyotrophy and polyneuropathy. Hypertrophic cardiomyopathy and increased serum lactate dehydrogenase and creatine kinase (CK) were found. Acanthocytes were not detected. The absence of XK protein and faintly expressed Kell antigens on erythrocytes were found. Genetic test revealed a R133X mutation of the XK gene, confirming the McLeod syndrome. After 7 years he suddenly developed delirium followed by severe hypoglycaemia, hyperthermia, rhabdomyolysis, hepatic and renal failure. Malignant arrhythmia caused death.
- 650 _2
- $a akantocyty $x metabolismus $x patologie $7 D000050
- 650 _2
- $a transportní systémy pro neutrální aminokyseliny $x genetika $7 D026921
- 650 _2
- $a chorea $x genetika $x komplikace $x metabolismus $7 D002819
- 650 _2
- $a kreatinkinasa $x krev $7 D003402
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a dehydratasy $x krev $7 D006836
- 650 _2
- $a krevní skupiny - systém Kell $x krev $7 D007626
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a lidé středního věku $7 D008875
- 650 _2
- $a mutace $7 D009154
- 650 _2
- $a poruchy pohlavních chromozomů $7 D025064
- 655 _2
- $a kazuistiky $7 D002363
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- $a Roth, Jan, $d 1961- $7 jo20000074063
- 700 1_
- $a Zárubová, Kateřina $7 xx0155203
- 700 1_
- $a Písačka, Martin $7 xx0060365
- 700 1_
- $a Špačková, Nataša. $7 xx0179214
- 700 1_
- $a Tilley, Louise
- 773 0_
- $t Parkinsonism & Related Disorders $w MED00006198 $g Roč. 14, č. 4 (2008), s. 364-366 $x 1353-8020
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- BAS __
- $a 3
- BMC __
- $a 2008 $b 14 $c 4 $d 364-366 $i 1353-8020 $m Parkinsonism & related disorders $n Parkinsonism Relat Disord $x MED00006198
- GRA __
- $a NR8937 $p MZ0
- LZP __
- $a 2011-4B/ewme
