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elipe
-S
ilva
A
et
al
.
190
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ev
A
ssoc
M
ed
B
ras
2014; 60(3):190-191
Accreditation
Update on polycystic kidney disease (hereditary): genetic
diagnosis and counseling
A
tualização
em
glaucoma
de
ângulo
fechado
:
diagnóstico
W
anderley
M. B
ernardo
, M
artin
R. W
hittle
e
R
icardo
S
imões
http://dx.doi.org/10.1590/1806-9282.60.03.0031. In prenatal and neonatal context, is ultrasonogra-
phy sufficient to confirm the clinical diagnosis of
autosomal recessive polycystic kidney disease (AR-
PKD)?
a.
Ultrasound examination is not the 1
st
investigation
to be applied to fetuses and neonates with suspected
disease.
b.
Yes, without the need for other tests.
c.
Renal ultrasound abnormalities are detectable from
32 weeks of gestation.
d.
Renal ultrasound abnormalities are detectable from
the 13th week of pregnancy when the diagnosis was
previously established in an affected sibling.
2. In the context of an adult, if the result of the ul-
trasound examination is inconclusive, does the
molecular test allow reaching a definitive conclu-
sion?
a.
Molecular tests may be indirect, such as PKHD1 gene
sequencing, or indirect, using linkage analysis.
b.
Molecular tests can be direct, such as linkage analysis.
c.
The type and position of mutations in the PKHD1
gene provide information about the prognosis of the
disease.
d.
Direct molecular genetic testing can detect all muta-
tions causing ARPKD.
3. Does ultrasound examination allow confirming
the clinical diagnosis of autosomal dominant
polycystic kidney disease (ADPKD)?
a.
In patients aged 15 to 29 years with 3 or more unila-
teral or bilateral cysts, the sensitivity is 69.5% and spe-
cificity is 100%.
b.
In patients aged 40 to 59 years with 2 or more unila-
teral or bilateral cysts, the sensitivity is 70% and spe-
cificity is 78%.
c.
Patients aged over 60 years with 4 or more cysts in
each kidney, sensitivity is 1% and specificity is 1%.
d.
Investigation using ultrasound is not recommended
as a first choice.
4. What are the advantages and disadvantages of indi-
rect
versus
direct approaches inmolecular testing for
ADPKD?
a.
Genetic linkage analysis (using polymorphic markers
within and / or near the genes that define haplotypes)
complements the indirect tests.
b.
Haplotype analysis is quick, simple and inexpensive.
c.
Indirect studies can be made in a single patient, but
are costly, time consuming and expensive and do not
always provide definitive information.
d.
Gene sequencing is the most direct.
5. What is the role of molecular testing for genetic
counseling of a couple or family that carries
ADPKD?
a.
Molecular tests are the only investigation that can pro-
vide predictive information about ADPKD in indivi-
duals before clinical signs and symptoms develop.
b.
The type of mutations in the genes provides Infor-
mation about the disease’s diagnosis.
c.
Gene rearrangements comprise around 40% of the
molecular lesions.
d.
In all families the disease develops similarly among
affected siblings.
A
nswers
to
clinical
scenario
:
update
on
vaccination
for
the
prevention
of
infectious
respiratory
disease
in
ddults
[
published
in
RAMB 2014; 60(2)]
1. Is there benefit in vaccine combination for the
prevention of infectious respiratory diseases in
adults?
Both the anti-influenza and pneumococcal vaccines
reduce hospitalizations. (alternative B)
2. Are there any differences between pneumococcal
polysaccharide vaccines (VPPS-23) and conjuga-
te vaccines?
The pneumococcal vaccine is not recommended for
pregnant women. (alternative C)