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PubMed

Záznam pochází z PubMed

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy

Virchows Archiv. A, Pathological anatomy and histopathology. 1990 ; 417 (5) : 449-55.

Virchows Arch A Pathol Anat Histopathol
ISSN 0174-7398
Zdroj

Jazyk angličtina Země Německo Médium print

Typ dokumentu kazuistiky, časopisecké články

Perzistentní odkaz https://www.medvik.cz/link/pmid02173254

PubMed 2173254
DOI 10.1007/bf01606034
Knihovny.cz E-zdroje

MeSH
elektronová mikroskopie MeSH
Fabryho nemoc komplikace metabolismus patologie MeSH
glykolipidy analýza MeSH
hmotnostní spektrometrie MeSH
kardiomegalie komplikace patologie MeSH
lidé středního věku MeSH
lidé MeSH
magnetická rezonanční spektroskopie MeSH
myokard metabolismus patologie MeSH
trihexosylceramidy metabolismus MeSH
Check Tag
lidé středního věku MeSH
lidé MeSH
mužské pohlaví MeSH
Publikační typ
časopisecké články MeSH
kazuistiky MeSH
Názvy látek
globotriaosylceramide MeSH Prohlížeč
glykolipidy MeSH
trihexosylceramidy MeSH

Fabry's disease was diagnosed in an adult patient as a lipid storage-induced non-obstructive hypertrophic cardiomyopathy. Stable angina pectoris started 15 years before death, was followed by slowly progressive heart failure and repeated pulmonary thromboembolism with death at 63 years. Autopsy disclosed enormous cardiomegaly (1100 g), cardiac storage of ceramide trihexoside (CTH) of the same intensity as in classical cases of generalized Fabry's disease (11 mg lipid/g wet weight) restricted to cardiocytes. Other tissues (liver, kidney, brain, pancreas, pulmonary artery, coronary arteries) were free of storage. Using proton magnetic resonance analysis on formaldehyde-fixed tissue the stored CTH was identified as globotriaosylceramide. It was enzymatically degradable by control cell cultures but left uncleaved by mutant reference Fabry cells. Alpha-galactosidase activities in peripheral leucocytes of all four of the patient's daughters were in the heterozygous range. The diagnostic difficulties in this monosymptomatic novel variant of Fabry's disease are stressed.

1st Institute of Pathology School of Medicine Czechoslovak Academy of Sciences Prague

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Br Heart J. 1987 Mar;57(3):296-9 PubMed

Biochemistry. 1980 Nov 25;19(24):5652-8 PubMed

Virchows Arch B Cell Pathol. 1977 Dec 30;26(2):133-8 PubMed

Acta Pathol Microbiol Scand. 1966;68(3):313-31 PubMed

Schweiz Med Wochenschr. 1982 Nov 27;112(48):1742-7 PubMed

Arch Mal Coeur Vaiss. 1972 Apr;65(4):495-503 PubMed

J Clin Ultrasound. 1983 Oct;11(8):437-41 PubMed

Med Welt. 1978 Nov 24;29(47):1851-4 PubMed

N Engl J Med. 1982 Oct 7;307(15):926-8 PubMed