Pediatric emergency medicine trisk 2452 2452
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Urine dip will be positive for non–glucose-reducing substances, that is, positive Clinitest, and have
negative or trace of glucose with glucose oxidase strip, that is, Clinistix or Glucostix. CBC will reveal
hemolysis. Electrolytes may be remarkable for hyperchloremic metabolic acidosis due to renal tubular
dysfunction. LFTs are expected to reveal markedly elevated bilirubin level, initially indirect and after 1 to
2 weeks direct, alkaline phosphate and mild to moderately elevated AST and ALT, and markedly elevated
PT and PTT. Given that most patients present as neonates, those with a known diagnosis will likely have
received the diagnosis based on NBS. Definitive diagnosis requires measurement of erythrocyte enzyme
activity, and particularly in patients with less severe presentation, it may reveal more benign forms.
Management
In addition to correction of dehydration, metabolic derangements, and infection, treatment requires
complete lifelong exclusion of galactose from the diet. In neonates, breast milk and cow milk must be
replaced with lactose-free soy formula, (e.g., Nutramigen, Pregestimil). Even when galactose-free diet is
initiated early, those who survive the neonatal period often have developmental delay or learning
disabilities.
Disorders of Carbohydrate Production or Utilization
Glycogen Storage Disorders
Goals of Treatment. Treatment goals specific for glycogen storage disorders are to correct hypoglycemia
if present and provide supportive care for organ dysfunction or failure most notably for GSD II heart and
liver, GSD IV liver, GSD V renal.
Current Understanding. Glycogen storage disorders are due to defects in glycogen synthesis, degradation,
or regulation. GSD 0, I, III, IV, VI, IX, which primarily involve liver, and GSD II, which involves
skeletal and cardiac muscle, account for the vast majority of cases in the United States and Europe.
Clinical Considerations
Assessment. GSD 0 is the most likely to result in acute decompensation, usually due to hypoglycemia
during intercurrent illness when patients are unable to take cornstarch, the mainstay of therapy.
Presentation is similar to that for fatty acid oxidation defects. Patients with GSD I, III, VI, IX may also
present with symptoms of hypoglycemia. Hepatomegaly is seen with GSD 0, I, III, IV, VI, IX.
Manifestations of skeletal muscle involvement include weakness and potentially renal failure due to
rhabdomyolysis. Depending on type, other findings can include cardiomyopathy, cardiac arrhythmias,
hemolysis, and jaundice.
Laboratory findings, depending on the organ systems involved, may include hypoglycemia, elevated
liver transaminases, ketosis, elevated CPK, myoglobinuria, elevated BUN, creatinine, anemia,
neutropenia, coagulopathy, elevated LDH and bilirubin. EKG may reveal arrhythmia or findings
consistent with cardiomegaly.
Management. Correction of hypoglycemia with glucose and glucose-containing fluids is the same as for
fatty acid oxidation defects. Enzyme replacement therapy is now available for a subset of GSDs.
NEONATE WITH POSITIVE NEWBORN SCREEN
CLINICAL PEARLS AND PITFALLS
