Pediatric emergency medicine trisk 2454 2454
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History should focus on details of pregnancy and delivery, including gestational age, complications,
medications, exposures, route of delivery, Apgar scores, and complications; medications; family history
of affected relatives, stillbirths, SIDS; and postnatal history, including fever, lethargy, feeding, vomiting,
diarrhea, jaundice, abnormal movements, and abnormal odors. History may be unremarkable.
Examination should take note of level of activity, vital signs, temperature, weight, height, head
circumference, dysmorphic features, skin color, fontanelle, red reflex, cataracts, heart sounds, perfusion,
respiratory distress, abdominal distention, bowel sounds, hepatomegaly, splenomegaly, ambiguous
genitalia, cryptorchidism, suck, grasp, Moro, deep tendon reflexes, tone, symmetry, and seizures.
Physical examination may be normal.
Confirmatory testing is required for all neonates with a positive screen. Laboratory evaluation should
be disease specific. Routine tests may include electrolytes, BUN, creatinine, glucose, ammonia, AST,
ALT, bilirubin, PT, PTT, CBC, differential, platelets, and blood gas. Concurrent evaluation for infection
should be guided by history and examination. Appropriate tests for confirmation of the NBS condition for
which the patient is positive should be sent, even if all routine laboratory tests are normal. In some cases,
further testing is limited, at least initially, to repeat NBS, which may include measurement of standard
NBS analytes, as well as additional analytes, while in other cases, specialized tests including enzyme
assays and/or molecular tests are indicated.
Management
Specifics of management depend not only on the condition for which the patient screened positive but
also on the likely variant(s) of that condition, the concentration of the metabolite on NBS interpreted in
the context of age at the time of screening, and other factors that could modify test results.
Cardiopulmonary abnormalities and metabolic derangements must be corrected. Dietary modification,
vitamin cofactors, and/or medication may be appropriate and, in many cases, can prevent clinical
manifestations. Consultation with a specialist is indicated. Patients with any abnormality should, in most
cases, be admitted to the hospital. For patients who are discharged, a plan for very close follow-up and
genetic counseling, even though confirmatory testing may rule out true disease, should be established.
SUMMARY
Collectively IEMs are not rare, and clinical manifestations are often nonspecific. Therefore, a high index
of suspicion is essential for diagnosis. A few routine tests will serve as an informative screen for most
IEMs. Evaluation and treatment of patients with known IEM should be disease specific. All neonates
with positive NBS, even if asymptomatic, require evaluation and confirmatory testing, and if at risk for
acute decompensation emergent initiation of treatment. Rapid initiation of appropriate treatment for
patients with suspected or known IEM or positive NBS may not only be lifesaving but is also critical for
optimizing long-term outcome.
Suggested Readings and Key References
ACMG Newborn Screening Work Group. Metabolic disorders. Newborn screening ACT sheets and
confirmatory algorithms. Available at . Accessed March 9, 2019.
Acute Illness Protocols. New England Consortium of metabolic programs at Children’s Hospital Boston.
Available at . Accessed
March 9, 2019.
Advisory Committee on Heritable Disorders in Newborns and Children. Recommended uniform
screening
panel.
Available
at
Accessed April 4, 2019.
Bahi-Buisson N, Dulac O. Epilepsy in inborn errors of metabolism. Handb Clin Neurol 2013;111:533–
541.
