Gitelman's syndrome is a hereditary disorder occurring due to loss of functional mutations of the gene encoding the distal convoluted tubule sodium chloride cotransporter (NCCT) and is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. This case reports an adolescent girl presenting with episodes of carpopedal spasms and difficulty in walking with laboratory tes...

Gitelman syndrome is an autosomal recessive disease mostly associated with loss-of-function mutations of the SLC12A3 gene and featured by clinical hypokalemia, hypomagnesemia, hypocalciuria, and histologically hypertrophy of the juxtaglomerular apparatus. A novel homozygous mutation (p.Arg399Pro) at the extracellular domain of SLC12A3 was found and correlated with the severe clinical manifestat...

CASE REPORT A 34 year old caucasian woman with no prior medical presented with severe hypokalemia; hypomagnesemia and mild hyponatremia. Her past medical and family history were unremarkable. She was on no medication and denied any symptoms, unless for occasionally muscle cramps. Water intake ≥3L/ day. She was normotensive, no edemas and normal urine output. The review of systems was otherwise ...

Hypocalcemia has been observed in patients receiving WR-2721 IS-,2-(3-aminopropylamino)-, ethylphosphorothioic acid]. WR2721 is a compound that, after being dephosphorylated, provides protection of normal tissues against radioand chemotherapy. The hypocalcemic response was accompanied by a decrease in the plasma level of parathyroid hormone (PTH) and by hypomagnesemia. Our present studies in ra...

Animals and humans rapidly develop respiratory failure and die within a few days when exposed to 100% oxygen. Postmortem examination of the lungs shows histopathologic features characteristic of diffuse alveolar damage, clinically recognized as adult respiratory distress syndrome (ARDS). At the present time, there is no effective therapy available to alter outcomes in ARDS. Importantly, hypomag...