Аннотация
Smith-Lemli-Opitz syndrome (SLOS) is a malformation
syndrome caused by deficiency of 7-dehydrocholesterol
reductase catalysing the last step of cholesterol
biosynthesis. This results in an accumulation of 7- and
8-dehydrocholesterol (7 + 8-DHC) and, in most patients, a
deficiency of cholesterol. Current therapy consists of
dietary cholesterol supplementation, which raises plasma
cholesterol levels, but clinical effects have been reported
in only a few patients. Hydroxymethylglutaryl-coenzyme A
(HMG-CoA) reductase inhibitors were shown to reduce 7 +
8-DHC levels and increase cholesterol concentrations in two
small trials with divergent clinical outcome. This
retrolective study evaluates the effects of cholesterol
only and of cholesterol plus the HMG-CoA reductase
inhibitor simvastatin on plasma sterols in 39 SLOS patients
and on anthropometric measures in 20 SLOS patients.
Cholesterol as well as additional simvastatin decreased the
plasma (7 + 8-DHC)/cholesterol ratio. However, the
mechanism leading to the decreasing ratio was different.
Whereas it was due to an increasing cholesterol
concentration in the cholesterol-only cohort, a decreasing
7 + 8-DHC concentration was demonstrated in the cohort
receiving additional simvastatin. We could not confirm a
positive effect of simvastatin treatment on anthropometric
measures or behaviour, as previously reported.
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