Mutations inSLC34A3/NPT2cAre Associated with Kidney Stones and Nephrocalcinosis

Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.

Compound heterozygous and homozygous (comp/hom) mutations in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium (Na(+))-dependent phosphate cotransporter 2c (NPT2c), cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a disorder characterized by renal phosphate wasting resulting in hypophosphatemia, correspondingly elevated 1,25(OH)2 vitamin D levels, h...

Urine with stones: nephrocalcinosis and vitamin D

Background Nephrocalcinosis (NC) refers to diffuse, fine, renal parenchymal calcification, as assessed by radiology or ultrasonography. In medullary NC, the calcification tends to occur in the area of the renal pyramids. It is typically associated with elevated urinary calcium, phosphate, and oxalate, or it can occur with alkaline urine. Any disorder that can lead to hypercalcemia or hypercalci...

are simple renal cysts in childhood associated with kidney stones?

Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations

BACKGROUND/AIMS Donohue and Rabson-Mendenhall syndrome are rare autosomal recessive disorders caused by mutations in the insulin receptor gene, INSR. Phenotypic features include extreme insulin resistance, linear growth retardation, paucity of fat and muscle, and soft tissue overgrowth. The insulin receptor is also expressed in the kidney, where animal data suggest it plays a role in glomerular...

Renal pathology associated with kidney stones in two buffaloes

Background: Reports on kidney stone incidences in large animal is not uncommon and that too in buffaloes. Despite, their repeated recording during post mortem examination, detailed elaboration of their effect on renal system including anatomical and functional changes were not described sufficiently. It is believed that nutritional alteration(s) in feeding regimen of large animals play signific...