Ultrastructural and histochemical studies of bioptic and postmortem tissue samples from ten Fabry hemizygotes showed lysosomal storage in adipocytes as a constant feature of the classic phenotype of α-galactosidase (GLA) deficiency. The storage was represented by a crescent-shaped line of storage lysosomes of varying thicknesses restricted to the perinuclear subplasmalemmal area. The ultrastructure of the storage lysosomes was dominated by concentric lipid membranes modified by simultaneous deposition of autofluorescent ceroid. Storage was widely expressed in adipose tissue. The number of storage lysosomes was increased, and the lysosomes were more clustered in adipocytes with less voluminous lipid content. The findings should attract interest to studies of adipose tissue biology in Fabry disease, a topic that has not been studied so far. In terms of cell biology, the observations represent indirect evidence of significant lysosomal turnover of α-galactose lipid conjugates in adipocytes demasked by GLA deficiency. The results extend the thus far limited information on the adipocyte lysosomal system and its participation in lysosomal storage disorders.

• MeSH
• alfa-galaktosidasa genetika   metabolismus   MeSH
• biopsie MeSH
• Fabryho nemoc enzymologie   genetika   patologie   MeSH
• fenotyp MeSH
• genetická predispozice k nemoci MeSH
• glykogen metabolismus   MeSH
• hemizygot MeSH
• lidé MeSH
• lyzozomy enzymologie   ultrastruktura   MeSH
• mutace MeSH
• pitva MeSH
• tukové buňky enzymologie   ultrastruktura   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• alfa-galaktosidasa MeSH
• glykogen MeSH

Fabry disease is an X-linked genetic disorder characterized by progressive intracellular accumulation of neutral glycosphingolipids. Cardiac involvement is frequent and left ventricular (LV) diastolic dysfunction is present in most of the affected subjects. Pulsed-wave tissue Doppler echocardiography (PW-TDE) and color M-mode are new Doppler methods for LV diastolic function evaluation. Their role in the assessment of Fabry disease-related cardiomyopathy remains to be established. In this study we aimed to determine the utility of PW-TDE and color M-mode-derived parameters in the assessment of LV diastolic function in patients with Fabry disease. Eighty-one echocardiographic examinations performed in 35 patients affected by Fabry disease were retrospectively analyzed. Early diastolic lateral mitral annular velocity (E(m)) determined by PW-TDE and color M-mode flow propagation velocity (V(p)) were measured and compared to LV filling patterns obtained using standard Doppler indexes. The receiver operating characteristics (ROC) curves method was used to determine the summary measure of relative accuracy for E(m) and V(p). A comparison of ROC curves showed a significant difference for areas under the curve in favor of E(m) (P < 0.001). Pseudonormal filling pattern, higher LV mass index, higher relative wall thickness, larger left atrial diameter, and older age were more frequent (all P < 0.001) in patients with incorrect diagnosis of normal LV diastolic function based on the measurement of V(p). E(m) appears to be superior to V(p) in the assessment of LV diastolic function in patients with Fabry disease. V(p) fails to detect abnormal LV diastolic function in subjects with pronounced concentric LV remodeling and pseudonormal filling pattern.

• MeSH
• barevná dopplerovská echokardiografie * MeSH
• dospělí MeSH
• dysfunkce levé srdeční komory diagnostické zobrazování   patofyziologie   MeSH
• Fabryho nemoc diagnostické zobrazování   patofyziologie   MeSH
• falešně negativní reakce MeSH
• funkce levé komory srdeční * MeSH
• hypertrofie levé komory srdeční diagnostické zobrazování   patofyziologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mitrální chlopeň diagnostické zobrazování   patofyziologie   MeSH
• plocha pod křivkou MeSH
• počítačové zpracování obrazu MeSH
• pulzní dopplerovská echokardiografie MeSH
• remodelace komor MeSH
• retrospektivní studie MeSH
• rychlost toku krve MeSH
• senzitivita a specificita MeSH
• srdeční síně diagnostické zobrazování   patofyziologie   MeSH
• tepový objem * MeSH
• výzkumný projekt MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH