PubMed · 15083862
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Toni Lapp. AAFP finds collaborations key to developing guidelines.. https://pubmed.ncbi.nlm.nih.gov/15083862/
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BACKGROUND/AIMS: Isolated aldosterone biosynthesis defect causing congenital hyperreninemic hypoaldosteronism with otherwise normal adrenal function usually results from aldosterone synthase deficiency. Patients present with manifestations of mineralocorticoid deficiency during the first weeks of life. The largest numbers of cases have been described in Iranian Jews, who carried concomitantly two homozygous missense mutations (R181W and V386A). In a few cases with presumed aldosterone synthase deficiency no mutations in CYP11B2 gene have been identified. We describe a molecular and endocrine evaluation of seven cases of congenital hyperreninemic hypoaldosteronism in Israel. PATIENTS/METHODS: Two of the six Jewish patients are of Iranian origin. The parents of five other patients originated from Yemen, Syria and Morocco. One patient is a Muslim-Arab. CYP11B2's exons, exon-intron boundaries and promoter region were sequenced by multiple PCR amplifications. Gene size determination was performed either by long-range PCR or by Southern blot analysis. RESULTS: Only two patients (Iranian Jews) carried a known homozygous R181W, V386A mutations, other two were compound heterozygotes for either the R181W or V386A and one additional novel amino acid substitution (A319V or D335G), and one patient was found to be a carrier of the two novel variations (A319V and D335G). We could not find a molecular defect in 2 patients: one was a carrier of the D335G mutation and the other had no detectable molecular change in the coding and promoter regions. CONCLUSION: The genetic and molecular basis of congenital hyperreninemic hypoaldosteronism is more heterogeneous than previously described. The significance of amino acid substitutions identified in this study remains to be determined.
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The prevalence of chronic hepatitis C virus (HCV) infection in prisons ranges from 12% to 31%. There are generally accepted--albeit still evolving--guidelines for identification and treatment of hepatitis C in the community. However, there is less agreement among health professionals caring for prisoners about best practices for identification, medical management, and treatment of hepatitis C. Inmates often lack health care before incarceration. In prisons, infected persons could be identified and the management of infection initiated; however, the high prevalence of HCV infection among prisoners would impose a disproportionate cost for hepatitis C care on the correctional system. The optimal solution is for prison and public health systems in the United States to jointly provide targeted HCV testing and standard-of-care hepatitis C medical management, treatment, and prevention programs to prison inmate populations. The authors report on a January 2003 meeting of experts in prison health, public health, hepatology, and infectious diseases and explore the clinical care, prevention, and collaboration needed to provide hepatitis C management in prisoners.