Abstract

Since the discovery of the disease, Apparent Mineralocorticoid Excess (AME), in 1977 by Dr. New, the enzymatic defect (11beta-hydroxysteroid dehydrogenase type II) causing the disease has been described. Recently, mutations in the gene encoding the enzyme have been described. The phenotype of the disease includes failure to thrive in early childhood, hypertension, hypokalemia, suppressed renin, and low secretion of all adrenal steroids. Recently, an exception to this phenotype has been found, in an inbred population. We plan to investigate the prevalence of the disease and the mutations in this population. As the disease has a high fatality rate, we plan to carry out long-term follow-up and treatment of patints investigated earlier in our Children's Clinical Research Center. Pre-emptive renal transplantation for patients with AME will be investigated as a new form of treatment.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR006020-10
Application #
6309705
Study Section
Project Start
1999-12-01
Project End
2000-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
10
Fiscal Year
2000
Total Cost
$128,106
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