UNASSIGNED: @entity4310 with @entity5200 and @entity11604 (FHHNC) is an @entity8 characterized by excessive urinary losses of @entity1760 and @entity460 , bilateral @entity11604 and progressive @entity177 . Presentation with FHHNC symptoms generally occurs early in childhood or before adolescence. At present, the only therapeutic option is supportive and consists of oral @entity1760 supplementation and @entity6662 diuretics. However, neither treatment seems to have a significant effect on the levels of serum @entity1760 or urine @entity460 or on the decline of renal function. In @entity454 @entity1 , renal transplantation is the only effective approach. This rare disease is caused by mutations in the @entity23631 or @entity35546 genes. @entity1 with mutations in @entity35546 also present severe @entity735 such as @entity1714 , @entity346 and macular colobamata. @entity23631 and @entity35546 encode the tight-junction proteins @entity23631 and @entity35546 , respectively, which are expressed in the thick ascending limb of Henle's loop and form an essential complex for the paracellular reabsorption of @entity1760 and @entity460 . @entity35546 is also expressed in retinal epithelium and peripheral neurons. Research studies using @entity19 and cell models have generated significant advances on the understanding of the pathophysiology of FHHNC. A recent finding has established that another member of the claudin family, @entity31649 , plays a key regulatory role in paracellular cation reabsorption by inhibiting the @entity23631 - @entity35546 complex. Furthermore, several studies on the molecular and cellular consequences of disease-causing @entity23631 and @entity35546 mutations have provided critical information for the development of potential therapeutic strategies.

@entity4310 with XXXX and @entity11604 : clinical and molecular characteristics.

@entity1 :: ('9606', 'Species') :: ['Patients', 'patients'] @entity8 :: ('MESH:D007674', 'Disease') :: ['autosomal-recessive renal tubular disorder'] @entity454 :: ('MESH:D007676', 'Disease') :: ['end-stage renal disease'] @entity19 :: ('10090', 'Species') :: ['mouse'] @entity35546 :: ('149461', 'Gene') :: ['CLDN19', 'claudin-19', 'Claudin-19'] @entity31649 :: ('23562', 'Gene') :: ['claudin-14'] @entity11604 :: ('MESH:D009397', 'Disease') :: ['nephrocalcinosis'] @entity177 :: ('MESH:D051437', 'Disease') :: ['chronic renal failure'] @entity735 :: ('MESH:D005124', 'Disease') :: ['ocular abnormalities'] @entity6662 :: ('D049971', 'Chemical') :: ['thiazide'] @entity23631 :: ('10686', 'Gene') :: ['CLDN16', 'claudin-16'] @entity460 :: ('MESH:D002118', 'Chemical') :: ['calcium'] @entity4310 :: ('MESH:D009386', 'Disease') :: ['Familial hypomagnesaemia'] @entity5200 :: ('MESH:D053565', 'Disease') :: ['hypercalciuria'] @entity346 :: ('MESH:D009759', 'Disease') :: ['nystagmus'] @entity1714 :: ('MESH:D009216', 'Disease') :: ['myopia'] @entity1760 :: ('MESH:D008274', 'Chemical') :: ['magnesium']
@entity5200 :: (MESH:D053565,Disease) :: ['hypercalciuria']
