Two unusual cases of Gitelman's syndrome with a complex inheritance: how the phenotype can help interpret the genotype: lesson for the clinical nephrologist

Lorenzo A. Calò, Viviana Palazzo, Leonardo Salviati, Franca Anglani
2020 JN. Journal of Nephrology (Milano. 1992)  
Case 1 A 4-year-old female was referred to our hospital in 2014 for an episode of gastroenteritis and abdominal pain. Biochemical tests revealed Salmonella group B infection, and hypokalemia (2 mmol/L). Renal function was normal, as were other blood parameters. The child recovered with no complications, but hypokalemia and hypochloremia persisted (2.4 mmol/L and 95 mmol/L, respectively, at discharge) despite treatment with K supplements (10 mmol three times daily). One month later, the patient
more » ... later, the patient was readmitted to the Pediatric Unit for abdominal pain and cramps. Blood tests showed hypokalemia (2.0 mmol/L), hypomagnesemia (0.55 mmol/L), hypocalciuria (2.0 mmol/24 h), and renin-angiotensin-aldosterone system (RAAS) activation (renin 49.6 mIU/L, aldosterone 740 pmol/L), metabolic alkalosis, normal renal function, and no proteinuria. Blood pressure was normal to low. The patient was given K (27 mmol/L four times daily, oral suspension) and Mg (325 mg twice
doi:10.1007/s40620-020-00861-7 pmid:32926342 fatcat:eviy63y3srauzeldcdzkixv34i