Abstract

Familial hypophosphatemic rickets is an x-linked disorder of phosphate homeostasis. Affected patients suffer a variable degree of limb deformity and disproportionate short stature. The pathophysiology of XLH is dominated by , but not limited to, renal phosphate wasting. This disorder has long been attributed to a primary defect in renal phosphate transport. This now appears unlikely for three reasons: neither of the two, recently cloned renal phosphate tranporters is in the x-chromosome, (1,2); current evidence suggests that the renal phosphate loss in HYP, the Murine equivalent of XLH, is due to the action of a humoral factor or factors on normal kidney and not due to an intrinsic renal defect; the XLH defect involves more than an abonormality of phosphate transport since these patients have reduced renal calcitriol generation in response to PTH and decreased phophate levels.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR006020-12
Application #
6581385
Study Section
Project Start
2001-12-01
Project End
2002-11-30
Budget Start
Budget End
Support Year
12
Fiscal Year
2002
Total Cost
Indirect Cost

  Institution

Name
Weill Medical College of Cornell University
Department
Type
DUNS #
201373169
City
New York
State
NY
Country
United States
Zip Code
10065

  Publications

Cunningham-Rundles, Susanna; Ahrné, Siv; Johann-Liang, Rosemary et al. (2011) Effect of probiotic bacteria on microbial host defense, growth, and immune function in human immunodeficiency virus type-1 infection. Nutrients 3:1042-70
Martin, Maureen P; Qi, Ying; Goedert, James J et al. (2010) IL28B polymorphism does not determine outcomes of hepatitis B virus or HIV infection. J Infect Dis 202:1749-53
Cunningham-Rundles, Susanna; Lin, Hong; Ho-Lin, Deborah et al. (2009) Role of nutrients in the development of neonatal immune response. Nutr Rev 67 Suppl 2:S152-63
Peoples, John Denton; Cheung, Sandy; Nesin, Mirjana et al. (2009) Neonatal cord blood subsets and cytokine response to bacterial antigens. Am J Perinatol 26:647-57
Tatad, A M Francesca; Nesin, Mirjana; Peoples, John et al. (2008) Cytokine expression in response to bacterial antigens in preterm and term infant cord blood monocytes. Neonatology 94:8-15
Thio, Chloe L; Astemborski, Jacquie; Thomas, Rasmi et al. (2008) Interaction between RANTES promoter variant and CCR5Delta32 favors recovery from hepatitis B. J Immunol 181:7944-7
Thio, Chloe L; Astemborski, Jacquie; Bashirova, Arman et al. (2007) Genetic protection against hepatitis B virus conferred by CCR5Delta32: Evidence that CCR5 contributes to viral persistence. J Virol 81:441-5
Motaghedi, Roja; Gujral, Sahil; Sinha, Sunil et al. (2007) Insulin-like growth factor binding protein-1 to screen for insulin resistance in children. Diabetes Technol Ther 9:43-51
Diaz, Alejandro; Vogiatzi, Maria G; Sanz, Maureen M et al. (2006) Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome. Horm Res 66:111-7
Vogiatzi, Maria G; Autio, Karen A; Mait, Jeffrey E et al. (2005) Low bone mineral density in adolescents with beta-thalassemia. Ann N Y Acad Sci 1054:462-6

Showing the most recent 10 out of 56 publications