Distal Nephron Function in Familial Hypokalemia – Hypomagnesemia (Gitelman’s Syndrome)

A Rare Case of Hypokalemia and Hypomagnesemia.

Nephrocalcinosis in siblings--familial hypomagnesemia, hypercalciuria with nephrocalcinosis (FHHNC syndrome).

Familial Hypomagnesemia, Hypercalciuria with Nephrocalcinosis is a rare autosomal recessive inherited disease associated with renal failure. Two girls born of consanguineous parentage aged 16 and 17 presented to us with renal failure, nephrocalcinosis and bone deformities. On evaluation they were found to have hypomagnesemia, hypercalciuria, increased fractional excretion of magnesium, hypocitr...

Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review

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...

Iatrogenic Hypokalemia and Hypomagnesemia: A cause of Torsades de Pointes

Patients in heart failure (HF) are prone to electrolyte imbalance and consequent potentially lethal arrhythmias. Case: 47-year-old male with cardiomyopathy and LV dysfunction, and prophylactic implanted cardioverter-defibrillator (ICD), hospitalized with dizziness and one episode of ICD discharge; denied prior similar episodes. Medications: furosemide 80 mg BID, aspirin and carvedilol. BP 119/7...

Distal nephron function of the rat during lithium chloride infusion.

Distal nephron function of the rat during lithium chloride infusion. Chronic lithium (Li) administration in the rat leads to reduced renal concentration (TCH20) without alterations in renal dilution (CH), To examine the acute effects of lithium on TH2O and C1120, rats were infused with a solution composed of 1% sodium chloride and 1% lithium chloride or a 0.225% lithium chloride solution at rat...