Table 2 Indicative symptoms and markers suggested for classic AME and non-classic AME

Phenotypes

Range of age at diagnosis

Infant to juvenile

Adolescent to adult

Blood pressure

III grade hypertension or higher

Normal /mild hypertension

History of polyuria and polydipsia

Y

N

Pre- and postnatal growth failure

Y

N

Failure to survive

Y

N

Markers

Electrolyte

Hypokalemia

Normal

Plasma renin activity

Low

Low

Plasma aldosterone level

Low

Normal

Urinary F/E

High

Slightly increased

Urinary THF + allo-THF/THE

High

Normal/slightly increased

Others

Exosomal urinary HSD11B2 mRNA

Microalbuminuria, plasminogen activator inhibitor-1, sensitivity c-reactive protein, L-dopachrome, gamma-L-glutamyl-L-methionine sulfoxide, 5-sulfoxymethylfurfural, S-phenylmercapturic acid, bilirubin, L-iditol, deoxyribose 1-phosphate, citric acid

TNF