Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2018.12.024
Abstract: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal-recessive renal tubular disorder characterized by excessive urinary losses of magnesium and calcium, bilateral nephrocalcinosis and progressive chronic renal failure in childhood or adolescence. The disease is… read more here.
Keywords: mutation; nephrocalcinosis; hypomagnesemia hypercalciuria; hypercalciuria nephrocalcinosis ... See more keywords
An Uncommon Cause of Hypomagnesemia With Hypercalciuria and Nephrocalcinosis in a Young Woman
Sign Up to like & getrecommendations! Published in 2021 at "Journal of the Endocrine Society"
DOI: 10.1210/jendso/bvab048.366
Abstract: Abstract Background: Mutations of the calcium-sensing receptor (CaSR) gene resolve in a change of calcium homeostasis with autosomal dominant and/or sporadic hypocalcemia with hypercalciuria (ADH) (gain-of-function) and familial hypocalciuric hypercalcemia (loss-of-function-mutation). Additionally, genetic mutations in… read more here.
Keywords: gene; hypomagnesemia; hypercalciuria nephrocalcinosis; hypomagnesemia hypercalciuria ... See more keywords