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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
MeSH Review

Nephrocalcinosis

 
 
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Disease relevance of Nephrocalcinosis

 

Psychiatry related information on Nephrocalcinosis

 

High impact information on Nephrocalcinosis

  • Microscopic nephrocalcinosis was observed in 35 of the 38 specimens (92 percent), and hypercalciuria (greater than 182 mg per gram of creatinine) in 5 of the 14 patients (36 percent) [7].
  • Over 20 different mutations in the CLDN16 gene have been identified in patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), a disease of excessive renal Mg2+ and Ca2+ excretion [8].
  • Urinary excretion of oxalate and phosphate was measured in twelve vitamin-D-treated, phosphate-supplemented patients with X-linked hypophosphataemia (XLH; four children, eight adolescents and adults) to investigate possible causative factors of nephrocalcinosis other than calcium [9].
  • Therefore, we conclude that the nephrocalcinosis in rats fed a basal alpha protein diet is not induced by PTH or excess phosphate, but is induced by some other factor associated with the diet [10].
  • In summary, we show that Npt2 gene ablation is associated with renal calcification and suggest that mutations in the NPT2 gene may contribute to nephrocalcinosis in a subset of patients with familial hypercalciuria [11].
 

Chemical compound and disease context of Nephrocalcinosis

  • These results clarified four novel mutations in the CLCN5 genes, and additionally suggested that the loss-of-function mutation of the CLCN5 does not necessarily lead to hypercalciuria and nephrocalcinosis in the early stage of the disease, and that LMWP is an early and essential manifestation of disorders of the CLC-5 chloride channel [12].
  • BACKGROUND: Furosemide induces nephrocalcinosis in both humans and animals [13].
  • Acetazolamide-associated nephrocalcinosis in a transplant kidney [14].
  • Chronic administration of verapamil (Ver) decreases nephrocalcinosis and tubular ultrastructural abnormalities in the remnant model of chronic renal disease [15].
  • Experimental studies revealed that crystal retention in the distal nephron, a process that may lead to nephrocalcinosis, is limited to proliferating/regenerating tubular cells expressing hyaluronan and osteopontin at their luminal surface [16].
 

Biological context of Nephrocalcinosis

 

Anatomical context of Nephrocalcinosis

 

Gene context of Nephrocalcinosis

 

Analytical, diagnostic and therapeutic context of Nephrocalcinosis

References

  1. X-linked recessive nephrolithiasis with renal failure. Frymoyer, P.A., Scheinman, S.J., Dunham, P.B., Jones, D.B., Hueber, P., Schroeder, E.T. N. Engl. J. Med. (1991) [Pubmed]
  2. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Simon, D.B., Bindra, R.S., Mansfield, T.A., Nelson-Williams, C., Mendonca, E., Stone, R., Schurman, S., Nayir, A., Alpay, H., Bakkaloglu, A., Rodriguez-Soriano, J., Morales, J.M., Sanjad, S.A., Taylor, C.M., Pilz, D., Brem, A., Trachtman, H., Griswold, W., Richard, G.A., John, E., Lifton, R.P. Nat. Genet. (1997) [Pubmed]
  3. A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting. Müller, D., Kausalya, P.J., Claverie-Martin, F., Meij, I.C., Eggert, P., Garcia-Nieto, V., Hunziker, W. Am. J. Hum. Genet. (2003) [Pubmed]
  4. Combined hepatic and renal transplantation in primary hyperoxaluria type I: clinical report of nine cases. Watts, R.W., Morgan, S.H., Danpure, C.J., Purkiss, P., Calne, R.Y., Rolles, K., Baker, L.R., Mansell, M.A., Smith, L.H., Merion, R.M. Am. J. Med. (1991) [Pubmed]
  5. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Peters, M., Jeck, N., Reinalter, S., Leonhardt, A., Tönshoff, B., Klaus G, G., Konrad, M., Seyberth, H.W. Am. J. Med. (2002) [Pubmed]
  6. Severe renal failure and nephrocalcinosis in anorexia nervosa. Roberts, M.A., Thorpe, C.R., Macgregor, D.P., Paoletti, N., Ierino, F.L. Med. J. Aust. (2005) [Pubmed]
  7. Microscopic nephrocalcinosis in cystic fibrosis. Katz, S.M., Krueger, L.J., Falkner, B. N. Engl. J. Med. (1988) [Pubmed]
  8. Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16. Kausalya, P.J., Amasheh, S., Günzel, D., Wurps, H., Müller, D., Fromm, M., Hunziker, W. J. Clin. Invest. (2006) [Pubmed]
  9. Evidence suggesting hyperoxaluria as a cause of nephrocalcinosis in phosphate-treated hypophosphataemic rickets. Reusz, G.S., Latta, K., Hoyer, P.F., Byrd, D.J., Ehrich, J.H., Brodehl, J. Lancet (1990) [Pubmed]
  10. The effects of parathyroidectomy on the development of nephrocalcinosis in rats fed phosphate-supplemented and unsupplemented diets containing alpha protein. Zalups, R.K., Haase, P. Am. J. Pathol. (1983) [Pubmed]
  11. Renal calcification in mice homozygous for the disrupted type IIa Na/Pi cotransporter gene Npt2. Chau, H., El-Maadawy, S., McKee, M.D., Tenenhouse, H.S. J. Bone Miner. Res. (2003) [Pubmed]
  12. Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. Morimoto, T., Uchida, S., Sakamoto, H., Kondo, Y., Hanamizu, H., Fukui, M., Tomino, Y., Nagano, N., Sasaki, S., Marumo, F. J. Am. Soc. Nephrol. (1998) [Pubmed]
  13. Effect of the calcimimetic NPS R-467 on furosemide-induced nephrocalcinosis in the young rat. Pattaragarn, A., Fox, J., Alon, U.S. Kidney Int. (2004) [Pubmed]
  14. Acetazolamide-associated nephrocalcinosis in a transplant kidney. Parikh, J.R., Nolan, R.L., Bannerjee, A., Gault, M.H. Transplantation (1995) [Pubmed]
  15. Verapamil protects against progression of experimental chronic renal failure. Harris, D.C., Hammond, W.S., Burke, T.J., Schrier, R.W. Kidney Int. (1987) [Pubmed]
  16. Preconditioning of the distal tubular epithelium of the human kidney precedes nephrocalcinosis. Verhulst, A., Asselman, M., De Naeyer, S., Vervaet, B.A., Mengel, M., Gwinner, W., D'Haese, P.C., Verkoelen, C.F., De Broe, M.E. Kidney Int. (2005) [Pubmed]
  17. Images in Nephrology. Renal cortical nephrocalcinosis. Schepens, D., Verswijvel, G., Kuypers, D., Vanrenterghem, Y. Nephrol. Dial. Transplant. (2000) [Pubmed]
  18. Bartter syndrome in a neonate: early treatment with indomethacin. Mourani, C.C., Sanjad, S.A., Akatcherian, C.Y. Pediatr. Nephrol. (2000) [Pubmed]
  19. Comparison of renal calcium concentration in obese, lean, diabetic, and non-diabetic Zucker rats fed a magnesium-deficient fructose diet. Koh, E.T., Min, K.W., Scholfield, D.J., Sarkarcadeh, A. Magnesium research : official organ of the International Society for the Development of Research on Magnesium. (1991) [Pubmed]
  20. Nephrocalcinosis in preterm babies. Narendra, A., White, M.P., Rolton, H.A., Alloub, Z.I., Wilkinson, G., McColl, J.H., Beattie, J. Archives of disease in childhood. Fetal and neonatal edition. (2001) [Pubmed]
  21. A deletion of the paracellin-1 gene is responsible for renal tubular dysplasia in cattle. Ohba, Y., Kitagawa, H., Kitoh, K., Sasaki, Y., Takami, M., Shinkai, Y., Kunieda, T. Genomics (2000) [Pubmed]
  22. The ultrastructure of nephrocalcinosis induced in chicks by Cestrum diurnum leaves. Sarkar, K., Narbaitz, R., Pokrupa, R., Uhthoff, H.K. Vet. Pathol. (1981) [Pubmed]
  23. Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss. Meij, I.C., van den Heuvel, L.P., Hemmes, S., van der Vliet, W.A., Willems, J.L., Monnens, L.A., Knoers, N.V. Nephrol. Dial. Transplant. (2003) [Pubmed]
  24. The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis. Thakker, R.V. Curr. Opin. Nephrol. Hypertens. (1998) [Pubmed]
  25. 1alpha-Hydroxylase gene ablation and Pi supplementation inhibit renal calcification in mice homozygous for the disrupted Npt2a gene. Tenenhouse, H.S., Gauthier, C., Chau, H., St-Arnaud, R. Am. J. Physiol. Renal Physiol. (2004) [Pubmed]
  26. Effect of dipyridamole on serum and urinary phosphate in X-linked hypophosphatemia. Seikaly, M.G., Quigley, R., Baum, M. Pediatr. Nephrol. (2000) [Pubmed]
  27. Hypercalcemia with nephrocalcinosis and impaired renal function due to increased Parathyroid hormone secretion at onset of childhood acute lymphoblastic leukemia. Lankisch, P., Kramm, C.M., Hermsen, D., Wessalowski, R. Leuk. Lymphoma (2004) [Pubmed]
  28. Risk factors for chronic allograft nephropathy after renal transplantation: a protocol biopsy study. Schwarz, A., Mengel, M., Gwinner, W., Radermacher, J., Hiss, M., Kreipe, H., Haller, H. Kidney Int. (2005) [Pubmed]
  29. Urinary oxalate excretion by very low birth weight infants receiving parenteral nutrition. Campfield, T., Braden, G. Pediatrics (1989) [Pubmed]
  30. Parathyroid hormone directly inhibits tubular reabsorption of bicarbonate in normocalcaemic rats with chronic hyperparathyroidism. Jaeger, P., Jones, W., Kashgarian, M., Segre, G.V., Hayslett, J.P. Eur. J. Clin. Invest. (1987) [Pubmed]
  31. Clinical quiz. Liddle's syndrome, triamterene crystallization, nephrocalcinosis, chronic renal failure and growth retardation. Fine, R.N. Pediatr. Nephrol. (1990) [Pubmed]
 
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