Doppler ultrasound study of portal hemodynamics in patients with Gaucher disease
Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase and characterized by the presence of pathological macrophages laden with glucosylceramide. Hepatosplenomegaly is a common manifestation of Gaucher disease, but symptomatic portal hyperten...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
University of Belgrade, University of Novi Sad
2015-01-01
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| Series: | Archives of Biological Sciences |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0354-4664/2015/0354-46641500001S.pdf |
| Summary: | Gaucher disease is a lysosomal storage disorder caused by a deficiency of the
enzyme glucocerebrosidase and characterized by the presence of pathological
macrophages laden with glucosylceramide. Hepatosplenomegaly is a common
manifestation of Gaucher disease, but symptomatic portal hypertension is
rarely seen. The study included 20 untreated adult patients with Gaucher
disease (non-neuronopathic type 1) diagnosed with the presence of Gaucher
cells in the bone marrow, and 20 healthy subjects as controls. The
examination of patients included color Doppler ultrasonography (pulsed
Doppler mode), resistive index (RI) and Doppler perfusion index (DPI) using a
Toshiba Xario ultrasound machine and a convex array probe PVT-375AX (1.9-6
MHz) with the objective of analyzing portal hemodynamics. Results showed that
all patients had enlarged liver and spleen, and their average sizes were
significantly larger than those in the healthy controls (liver: 17.04
vs.14.02 cm; spleen: 22.2 vs. 10.74 cm). DPI values were significantly
different between patients and controls (0.15 vs. 0.21). Considering DPI
<0.15 indicates arterial liver hypoperfusion and hypoxia, it can be concluded
that a number of patients had a problem with liver oxygenation, which may be
linked to the high angiotensin-converting enzyme (ACE) levels obtained in the
patients (339.42 U/L), 10 times greater than in control subjects. Since ACE
is a potent vasoconstrictor produced by spleen macrophages in Gaucher
disease, we can suppose that elevated ACE is associated with effects on the
blood vessels of the liver and spleen. [Projekat Ministarstva nauke Republike
Srbije, br. 175056] |
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| ISSN: | 0354-4664 1821-4339 |