Diagnosis of<unk>  can be confirmed after eliminating other common pathological sources of hypokalemia and metabolic alkalosis. A complete metabolic panel (CMP) or basic metabolic panel (BMP) can be used to evaluate serum electrolyte levels. Renin and aldosterone can be tested in the blood. Electrolyte measurement and aldosterone levels can be done via urine. The pathognomonic clinical markers include low serum levels of potassium, sodium, chloride, and magnesium in the blood as a result of urinary excretion. Urinary fractional excretion potassium is high or inappropriately normal in the context of hypokalaemia, and high levels of urinary sodium and chloride are observed. Other clinical indicators include elevated serum renin and aldosterone in the bloodstream, and metabolic alkalosis. The symptomatic features of this<unk>  are highly variable ranging from asymptomatic to mild manifestations (weakness, cramps) to severe symptoms (tetany, paralysis, rhabdomyolysis). Symptom severity is multi-factorial, with phenotypic expression varying amongst individuals within the same family. Genetic testing is another measure of identifying the underlying mutations which cause the pathologic symptoms of the disease. This mode of testing is available at select laboratories. Work-up to exclude the differential diagnosis of the electrolyte abnormalities is key. * In<unk>  hypocalciuria is present, and a urine calcium:creatinine ratio may help distinguish it from Bartter<unk>  as the two disorders can be clinically indistinguishable. Additionally in Bartter<unk>  maximal urine concentrating ability is lost. * Laxative abuse can mimic the serum electrolyte abnormalities, but fractional excretion of potassium will be low * Diuretic abuse could be suspected if urinary chloride excretion varies by time of day but may require a diuretic assay to detect * Surreptitious vomiting can cause metabolic alkalosis and hypokalaemia, but urinary chloride levels will be low * Medication history; Proton-pump inhibitors can cause an isolated hypomagnesaemia phenotype, and aminoglycosides such as gentamicin can cause a transient metabolic alkalosis with hypokalaemia and hypomagnesaemia that resolves 2–6 weeks after drug termination. * Primary aldosteronism will cause metabolic alkalosis and hypokalaemia, but hypertension will be present and serum renin will be low * EAST<unk> , though neurological features will predominate * Renal cysts and diabetes<unk>  can cause hypomagnesaemia and hypocalcuria, but is distinguished by early onset chronic kidney disease and an autosomal dominant inheritance pattern of renal cysts and/or diabetes
Gitelman syndrome
Angelman syndrome
FG syndrome
Omenn syndrome
Perlman syndrome
Irvine–Gass syndrome
Malouf syndrome
Gleich's syndrome