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[Hyperimmunoglobulinemia D and periodic fever syndrome].
[familial mediterranean fever]
We
report
the
cases
of
two
sisters
born
of
parents
who
were
first
-degree
cousins
,
who
started
recurrent
fever
with
lymph
node
and
digestive
tract
involvement
at
the
age
of
2
years
.
There
was
no
mutation
of
the
familial
Mediterranean
fever
gene
and
a
diagnosis
of
partial
mevalonate
kinase
(
MVK
)
deficiency
was
made
.
However
,
immunoglobulin
(
Ig
)
D
and
A
levels
were
normal
.
Elevated
mevalonic
acid
in
the
patients
'
urine
during
an
episode
and
MVK
gene
analysis
provided
the
diagnosis
.
Clinical
remission
was
obtained
under
anti-
TNF
-alpha
treatment
with
etanercept
.
These
observations
and
those
of
several
previously
reported
patients
,
particularly
in
French
and
Dutch
series
,
illustrate
the
importance
of
considering
the
diagnosis
in
a
child
with
early
-onset
auto-
inflammatory
syndrome
even
in
the
absence
of
hyper-
IgD
or
-
IgA
.
