Question

QUESTION 4 Pat and David were proud parents ol a new wavy Pat and David were proud parents of a new baby boy, Andy. While still in the hospital, Andy was screened for presence of any didn't fail any of the screening tests, results of one test where neare genetic or metabolic disorders using a heel prick. While he didn't fail any of the screening tests, result upper limit of normal. Pat and David are asked to keep a close eye on Andy's feeding and growth and contact an emergency room if there was cause for concern. While initially excited to take their baby home, Pat and David became concerned when Andy was a very poor feeder, vomited whatever little he ate and slept through most of the day and night. Within two weeks, Andy had lost 20% of his birth weight and was showing signs of "failure to thrive". He was readmitted to his birth hospital and though he was alert, he had low heart rate and signs of dehydration. Some more biochemical testing done. The results are shown below. pH 7.30 (7.35–7.45), HCO3 16.1 mmol/L (22–28 mmol/L), Na 112 mmol/L (135–145 mmol/L), K 9.7 mmol/L (3.5–5.0 mmol/L), ACTH: 120 pg/mL (10-60 pg/mL) a) What is Andy's metabolic state at the time of readmission based on the biochemical testing? b) What is the likely diagnosis for Andy? c) What is the biological reason that results in the clinical condition? d) What kind of testing can be used to confirm the diagnosis? e) What is the correlation between the electrolyte imbalances and ACTH level changes seen?

Answer 1

• Andy was in a state of metabolic acidosis ( not compensated)
• He is likely suffering from Addison's disease.
• It is mostly due to autoimmunity.
• ACTH stimulation test is the test of choice.
• High ACTH levels lead to sodium and chloride excretion while retaining potassium.