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Impaired paracellular ion transport in the loop of Henle causes familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Author(s) -
Haisch Lea,
Konrad Martin
Publication year - 2012
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.2012.06544.x
Subject(s) - paracellular transport , hypomagnesemia , claudin , hypercalciuria , nephrocalcinosis , reabsorption , loop of henle , endocrinology , chemistry , medicine , tight junction , microbiology and biotechnology , biology , kidney , biochemistry , membrane , permeability (electromagnetism) , excretion , magnesium , organic chemistry
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare tubular disorder caused by mutations in genes coding for tight junction (TJ) proteins. TJs define the paracellular path between adjacent cells and thereby play a pivotal role for the regulation of the paracellular ion permeability of epithelia. The family of TJ proteins comprise a variety of transmembrane proteins, including the claudins. Multiple distinct mutations in the genes for claudin‐16 and ‐19 have been described to be responsible for FHHNC. Both encoded proteins are especially important for the paracellular reabsorption of Mg 2+ and Ca 2+ in the thick ascending limb of Henle's loop. Interestingly, in addition to ion disturbances, FHHNC leads to chronic renal failure and may be associated with extrarenal symptoms.