Genetic heterogeneity in tubular hypomagnesemia-hypokalemia with hypocalcuria (Gitelman's syndrome)

A Rare Case of Hypokalemia and Hypomagnesemia.

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...

Genetic heterogeneity of Meckel syndrome.

Meckel syndrome (MKS) is a lethal, autosomal recessive condition characterised by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia, fibrotic changes of the liver in the portal area with ductal proliferation, and postaxial polydactyly. Recently, a MKS gene has been mapped to chromosome 17q21-q24 in Finnish families, with no evidence of locus heterogeneity in this po...

Genetic heterogeneity of Usher syndrome.

Progress towards the understanding of the molecular basis of US has been substantial. Nine different loci have been found to be responsible and two have had the specific gene identified. This information is expected to lay the foundation for the eventual development of new treatment strategies. Usher syndrome is the combined loss of both of humans most important two senses and a better understa...