Q ＆ATest
Additional Screening Test

Primary immunodeﬁciency diseases

Newborn
Mass Screening Test

＆Lysosomal diseases

All babies are eligible for this test
and the cost is subsidized
by the government.

The test is conducted for babies
upon request.

(Partially paid by the parent/guardian)(The total cost of the test is borneby the parent/guardian.)

Since this test is performed in conjunction with the Newborn
Mass Screening test, there is no additional burden on your baby,
such as drawing another blood sample.

Test procedure

Even babies who appear healthy may havebeen born with a disease. Early detection andtreatment can minimize the onset of disease
and developmental problems.

Only one in tens to hundreds of thousands ofbabies are diagnosed with these diseases.
However, because of the diﬃculty in diagnosis andtreatment, we recommend that all babies undergo this test.

Do I have to pay for the test?

Along with Newborn Mass Screening,please have your baby tested!

Do everything possible to protect
your precious child.

Since the test is optional, you will have to payfor it. Please contact your maternity institution.

Blood is collected on ﬁlter paper from the heel at 4-6 days of age.

Does the need for "retest" or "detailed examination"mean my baby is sick?

Test

The results will be available within a week to 10 days after the blood is drawn.

Notiﬁcation of test results

In case of noabnormality

In case that an abnormality issuspected

2-3 weeks after theblood is drawn,
the results will be mailed
to the medical institution
where you gave birth.
The result sheet will begiven to you at your baby's
1-month checkup.

You will be contacted immediatelyby phone by your maternity medical institution.

If the ﬁrst test cannot
reliably determine that
there is no abnormality,
another blood sample
will be drawn and tested
to conﬁrm the resultwith certainty.

Information on Additional Screening

Does my baby have to take the test?

Blood sampling

RetestPrimary immunodeﬁciency diseases
Lysosomal diseases

What is the purpose of this test?

Detailed
examination
Your maternity medical
institution will call you
and refer you to anothermedical institution thatcan perform a detailed
examination to see if
your baby is carrying aparticular disease.

Even if any of the diseases are detected, there is a system in place where themedical institution that performs a detailed examination, a medicalconsultant (physician), and the testing organization cooperate with eachother to ensure that appropriate treatment is promptly provided.

No. The need for retest or detailed examination
does not necessarily mean that the baby is sick. In
some cases, due to the condition of the baby, it may not be
possible to make an accurate diagnosis and the test may berepeated. A detailed examination will be done at a specialized
hospital to determine if the baby deﬁnitely carries the disease.

How will I pay for the treatment of my baby's illness?
Primary immunodeﬁciency diseases and lysosomal diseases aredesignated as speciﬁc diseases (intractable diseases) and speciﬁc
pediatric chronic diseases by the Japanese government, and are
therefore covered by the medical subsidy programs of the nationaland local governments.

Hokkaido Early Diagnosis Network for Rare Diseases
This test is conducted in cooperation with the following organizations
Department of Pediatrics, Hokkaido University Graduate School of Medicine
National Hospital Organization Hokkaido Medical Center
Department of Pediatrics, Asahikawa Medical University
Testing organization

Hokkaido Pharmaceutical Association Public Health Examination CenterIf you would like to know more about this test,
please visit the following website.

Newborn
Mass Screening Test

Primary immunodeﬁciency diseases＆

Lysosomal diseases

The sooner the disease is identiﬁed with this test,
the sooner the baby can be treated.

https://www.douyakken.or.jp/HEDNet-RD/

The most important thing is early detection
with this test to provide proper treatment.

Additional Screening Test

Diagnosis and Treatment Organization

If you would like to take the test, please contact our hospital.

There is no additional burden on the baby
such as another blood sampling.

Contact Information

Hokkaido Pharmaceutical Association Public Health Examination Center

Hokkaido Early Diagnosis Network for Rare Diseases

Phone: 011-824-1348 Fax: 011-824-1627

2021.4

Primary immunodeﬁciency
diseases (PID)
What kind of diseases?
These are diseases that cause repeated infections andbecome severe, due to an innate abnormality in the immune
system that ﬁghts infections. The two most common types
are severe combined immunodeﬁciency (SCID), in which
there are no T lymphocytes, and B cell deﬁciency, in which
there are no B lymphocytes. Both of these diseases cause
repeated severe infections from early infancy, resulting inpneumonia, otitis media, meningitis, and sepsis.
In the US, Taiwan, and some parts of Japan, this test isalready available, and many babies have been diagnosed
early and saved.
So this test is important.

B cell deﬁc

Severe combined immunodeﬁciency(X-linked ag(SCID)

Severe combined immunodeﬁciency is a disease that carries a highrisk of death if it is not treated properly. Even if a baby appears
healthy, the disease can be detected early by testing. It is
important to diagnose and start treatment before an infection
occurs.

iency

ammaglobu

linemia, etc.)

The disease
occurs main
ly in boys anof around 3
d develops
to 4 monthat the ages when thein the wom
imm
unoglobulin
b from thereceived
mother star
diagnosis an
ts to decr
d treatmenease. Earlyt can preve
becoming se
nt the infe
vere and rection fromcurring.

●Persistent diarrhea and coughing●Inability to gain weight or loss of weight

Major
symptoms

Major
symptoms●Severe viral infection●Oral candida infection

If left untreated and the child is later inoculatedwith a live vaccine such as a rotavirus vaccine,a BCG vaccine, etc., the child could die.

●Repeated
otitis media
and sinusiti●Pneumonsia, meningitis, and sep●Bronchiectsis
asis
Treatment

Treatment

Hematopoietic stem cell transplantation can restore the immune
system and provide a complete cure. Bone marrow or umbilical cord
blood (blood from the umbilical cord) is transplanted.

Immunoglob
ulin preparations are givelife to compn throughout
ensate for thelack of anti
prevent infe
bodies andctions.
helpSupervisor: Masafumi Yamada, Associate Professor, Department of Pediatrics,
Hokkaido University Graduate School of Medicine

Get your baby tested for primary immunodeﬁciency and lysosomal diseases to ensure his/her healthy growth!
Lysosomal diseases
What kind of diseases?
The enzymes contained in the lysosomes in the cells areeither absent or malfunctioning from birth, resulting in theaccumulation of fat and carbohydrates and the appearanceof various symptoms. There are about 60 known types oflysosomal diseases, and this test can detect ﬁve of them:mucopolysaccharidosis type I and II, Pompe disease, Fabry
disease, and Gaucher disease. Detecting the diseases as
early as possible after birth and providing enzyme
replacement therapy, etc. can control the progression ofsymptoms.
So this test is important.

Supervisor: Masayoshi Nagao, Vice Director, National Hospital Organization
Hokkaido Medical CenterIridosis typeahccaslyo
Mucop
e II
aridosis typhccas
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iately after
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be noticed
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aysmmsm
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Symptot, and sym
re apparenyears of age.
t
become mo
one or twodunevelopmenoaremad●Delayed dreuatdiagnosis isstrtlave●Shorotruding n
intestine/P●Herniatedotitis media●Repeatedspleene liver andMajor
elling of thts
Sw
●moving joins
d diﬃculty
symptomannaiptining●Jorneal cloudeases ●Co●Heart dis

Pompe disease
The time of onset diﬀers depending on the type of thedisease, ranging from symptoms appearing soon afterbirth, to those noticed in adulthood.

Majorsymptoms●Loss of muscle strength●Breathing disorders●Heart failureTreatment

The main treatment for lysosomal diseases is enzyme replacement therapy. By replenishing the body with the missing enzymes through intravenous infusion,
the accumulated substances are broken down and the progression of symptoms can be suppressed. In some cases, treatment is given immediately, while in othercases, the timing of the start of treatment is based on stages of the child's growth and development.

Fabry disease
Once believed to be a higher risk for men, but now
recognized as aﬀecting both sexes. In girls, the disease
may occur from puberty to adulthood, even if theNewborn Mass Screening test had shown no abnormality.

ChildrenAdult●Reduced ability to sweat●Cardiac disorder●Pain in the hands and feet ●Renal disorder

Majorsymptoms●Heat intolerance●Cerebrovascular disorder●Fever●Abdominal pain●Diarrhea●Skin rash

Gaucher disease

se, which diﬀer
es of Gaucher disea
There are three typical symptoms
log
sence of neuroaborceenesprein tht, and thethe time of onses,ionuls
nv
coas
suchdisease.
progression of thension●Abdominal diste
er and spleenliv●Swelling of theocytopenia)
ties (anemia, thromb●Blood abnormali
ity, and fracture
Major●Bone pain, deform
uthsymptoms
lty opening the mo●Strabismus, diﬃcu●Convulsions