Diagnosis of Metabolic disorders
Metabolic disorders Diagnosis: Book Excerpts
Diagnosis of Metabolic disorders: medical news summaries:
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Diagnostic Tests for Metabolic disorders: Online Medical Books
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Metabolic Acidosis:
Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)
- Increased anion gap (AG) metabolic acidosis, due to production of exogenous acid “MUDPILES”
-
Methanol
-
Uremia
-
DKA
-
Paraldehyde
-
Ingestions/inborn errors of metabolism
-
Lactic acidosis
-
Ethylene glycol
-
Salicylates
- Normal anion gap metabolic acidosis, due to bicarbonate loss in the GI tract or kidneys or impaired acid secretion by the kidney
–Diarrhea, other GI losses (very common)
–Type I (distal) renal tubular acidosis (RTA): Inability to excrete hydrogen ion, urine pH always high (>6.5), caused by a variety of medications, inherited forms, or renal insufficiency; often associated with low potassium and hypercalciuria
–Type II (proximal) RTA: Impaired reabsorption of bicarbonate from the proximal tubule, usually associated with other evidence of proximal tubule dysfunction (Fanconi syndrome), such as phosphaturia or glycosuria
–Type IV (hyperkalemic) RTA: Inadequate aldosterone production or inability to respond appropriately to aldosterone; commonly seen in patients with a history of obstructive uropathy or as a transient occurrence in patients with acute pyelonephritis
Workup and Diagnosis
- History
–Symptoms of fever, flank pain and vomiting
(pyelonephritis), lethargy/altered mental status
(intoxication or metabolic disease)
– GI losses (diarrhea), ingestions, poor growth, increased or decreased urine output, history of urinary tract abnormalities (e.g., congenital obstructive uropathy)
–Family history of kidney disease, kidney stones, metabolic disease, early infant deaths
-
Physical exam: Assessment of hydration status (heart rate, blood pressure, mucous membranes, skin perfusion), growth parameters, respiratory status (tachypnea suggests either primary respiratory process or respiratory compensation for severe metabolic acidosis) abdominal exam, complete neurologic exam
-
Labs
–Chemistry panel
–Calculation of AG =[Na+]
– [HCO3- +Cl–]; normal =10–12; when increased anion gap is due to exogenous acid, AG is often ≥20
–Venous blood gas, if the etiology of the acidosis is unclear (i.e., primary vs secondary); urinalysis (to help distinguish proximal vs distal RTA)
- Additional evaluation based on the clinical situation, e.g., toxicology, metabolic screens (increased AG acidosis), renal ultrasound (nephrocalcinosis with type I RTA)
» READ BOOK EXCERPT ONLINE »
Source: In A Page: Pediatric Signs and Symptoms, 2007
Metabolic acidosis:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Confirming diagnosis Arterial pH below 7.35 confirms metabolic acidosis. In severe acidotic states, pH may fall to 7.10, and the partial pressure of arterial carbon dioxide may be normal or below 34 mm Hg as compensatory mechanisms take hold. Bicarbonate may be below 22 mEq/L.
A metabolic panel can help reveal the cause and severity of metabolic acidosis. A complete blood count can be done to help assess possible causes as well. Supportive findings include:
❑ urine pH: below 4.5 in the absence of renal disease
❑ serum potassium levels: above 5.5 mEq/L from chemical buffering
❑ glucose levels: above 150 mg/dl in diabetes
❑ serum ketone bodies: elevated levels in diabetes mellitus
❑ serum osmolarity: increased levels, as in hyperosmolar hyperglycemic nonketotic acidosis or dehydration
❑ plasma lactic acid: elevated levels in lactic acidosis
❑ anion gap: greater than 14 mEq/L indicating metabolic acidosis (diabetic ketoacidosis, aspirin overdose, alcohol poisoning). (See Anion gap.)
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Metabolic alkalosis:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Confirming diagnosis Blood pH level greater than 7.45 and bicarbonate levels above 29 mEq/L confirm the diagnosis. A partial pressure of carbon dioxide above 45 mm Hg indicates attempts at respiratory compensation. Serum electrolyte studies show low potassium, calcium, and chloride levels.
Other characteristic findings include:
❑ Urine pH is usually about 7.0.
❑ Urinalysis reveals alkalinity after the renal compensatory mechanism begins to excrete bicarbonate.
❑ Electrocardiogram may show low T wave, merging with a U wave (secondary to hypocalcemia from metabolic alkalosis), and atrial or sinus tachycardia.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Metabolic syndrome:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Blood studies commonly indicate elevated blood glucose levels, hyperinsulinemia, and elevated serum uric acid. Use of lipid profile studies reveal elevated LDL levels, low HDL levels, and elevated triglycerides. Further diagnostic procedures are nonspecific, but may be performed to detect hypertension, diabetes, hyperlipidemia, and hyperinsulinemia.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
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