Renal potassium wasting and hypocalciuria ameliorated with magnesium repletion in Gitelman's syndrome

Renal potassium wasting and hypocalciuria ameliorated with magnesium repletion in Gitelman's syndrome.

A woman aged 45 years was presented with hypokalemic metabolic alkalosis and hypomagnesemia associated with renal potassium and magnesium wasting. Her 24-hour urinary calcium excretion was strikingly low despite normocalcemia and normal creatinine clearance, which is one of characteristic findings of Gitelman's syndrome (GS). She was evaluated for the responses following Mg supplementation for ...

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

Mutations in hepatocyte nuclear factor 1B (HNF1B), which is a transcription factor expressed in tissues including renal epithelia, associate with abnormal renal development. While studying renal phenotypes of children with HNF1B mutations, we identified a teenager who presented with tetany and hypomagnesemia. We retrospectively reviewed radiographic and laboratory data for all patients from a s...

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

Mutations in PCBD1 are causative for transient neonatal hyperphenylalaninemia and primapterinuria (HPABH4D). Until now, HPABH4D has been regarded as a transient and benign neonatal syndrome without complications in adulthood. In our study of three adult patients with homozygous mutations in the PCBD1 gene, two patients were diagnosed with hypomagnesemia and renal Mg(2+) loss, and two patients d...

Fanconi's syndrome with renal salt wasting and alkalosis.

Hyponatremia during a Severe Pneumococcal Meningitis with Renal Salt Wasting: A Cerebral Salt Wasting Syndrome?

Background: The existence and prevalence of cerebral salt wasting and its differentiation from syndrome of inappropriate antidiuretic hormone have been controversial. This controversy stems from overlapping clinical and laboratory findings and an inability to assess the volume status of these patients. Objectives:To present a case of a cerebral salt wasting syndrome secondary to a bacterial men...