Cargando…
Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess
Cystic fibrosis (CF) and apparent mineralocorticoid excess (AME) syndrome are both autosomal recessive disorders that result from mutations of specific identified genes for each condition. CF is caused by defects in the Cystic fibrosis trans membrane conductance regulator (CFTR) gene which encodes f...
Autores principales: | , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4286850/ https://www.ncbi.nlm.nih.gov/pubmed/25593612 http://dx.doi.org/10.4103/1817-1737.146892 |
_version_ | 1782351719452114944 |
---|---|
author | Zahraldin, Khalid Janahi, Ibrahim Ahmed Ben-Omran, Tawfeg Alsulaiman, Reem Hamad, Bajes Imam, Abubakr |
author_facet | Zahraldin, Khalid Janahi, Ibrahim Ahmed Ben-Omran, Tawfeg Alsulaiman, Reem Hamad, Bajes Imam, Abubakr |
author_sort | Zahraldin, Khalid |
collection | PubMed |
description | Cystic fibrosis (CF) and apparent mineralocorticoid excess (AME) syndrome are both autosomal recessive disorders that result from mutations of specific identified genes for each condition. CF is caused by defects in the Cystic fibrosis trans membrane conductance regulator (CFTR) gene which encodes for a protein that functions as a chloride channel and regulates the flow of other ions across the apical surface of epithelial cells. AME is due to the deficiency of 11β-hydroxysteroid dehydrogenase type 2 enzyme (11βHSD2), which is responsible for the peripheral inactivation of cortisol to cortisone. Cortisol excess stimulates the mineralocoritoid receptors (MR) resulting in intense sodium retention, hypokalemia and hypertension. We report on a consanguineous Arab family, in which two sibs inherited both CF and AME. Gene testing for AME revealed previously unreported mutation in the 11βHSD2 gene. This report draws attention to the importance of recognizing the possibility of two recessive disorders in the same child in complex consanguineous families. Moreover, it provides a unique opportunity to highlight the implications of the coexistence of two genetic disorders on patient care and genetic counseling of the family. |
format | Online Article Text |
id | pubmed-4286850 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-42868502015-01-15 Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess Zahraldin, Khalid Janahi, Ibrahim Ahmed Ben-Omran, Tawfeg Alsulaiman, Reem Hamad, Bajes Imam, Abubakr Ann Thorac Med Case Report Cystic fibrosis (CF) and apparent mineralocorticoid excess (AME) syndrome are both autosomal recessive disorders that result from mutations of specific identified genes for each condition. CF is caused by defects in the Cystic fibrosis trans membrane conductance regulator (CFTR) gene which encodes for a protein that functions as a chloride channel and regulates the flow of other ions across the apical surface of epithelial cells. AME is due to the deficiency of 11β-hydroxysteroid dehydrogenase type 2 enzyme (11βHSD2), which is responsible for the peripheral inactivation of cortisol to cortisone. Cortisol excess stimulates the mineralocoritoid receptors (MR) resulting in intense sodium retention, hypokalemia and hypertension. We report on a consanguineous Arab family, in which two sibs inherited both CF and AME. Gene testing for AME revealed previously unreported mutation in the 11βHSD2 gene. This report draws attention to the importance of recognizing the possibility of two recessive disorders in the same child in complex consanguineous families. Moreover, it provides a unique opportunity to highlight the implications of the coexistence of two genetic disorders on patient care and genetic counseling of the family. Medknow Publications & Media Pvt Ltd 2015 /pmc/articles/PMC4286850/ /pubmed/25593612 http://dx.doi.org/10.4103/1817-1737.146892 Text en Copyright: © Annals of Thoracic Medicine http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Zahraldin, Khalid Janahi, Ibrahim Ahmed Ben-Omran, Tawfeg Alsulaiman, Reem Hamad, Bajes Imam, Abubakr Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess |
title | Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess |
title_full | Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess |
title_fullStr | Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess |
title_full_unstemmed | Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess |
title_short | Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess |
title_sort | two qatari siblings with cystic fibrosis and apparent mineralocorticoid excess |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4286850/ https://www.ncbi.nlm.nih.gov/pubmed/25593612 http://dx.doi.org/10.4103/1817-1737.146892 |
work_keys_str_mv | AT zahraldinkhalid twoqatarisiblingswithcysticfibrosisandapparentmineralocorticoidexcess AT janahiibrahimahmed twoqatarisiblingswithcysticfibrosisandapparentmineralocorticoidexcess AT benomrantawfeg twoqatarisiblingswithcysticfibrosisandapparentmineralocorticoidexcess AT alsulaimanreem twoqatarisiblingswithcysticfibrosisandapparentmineralocorticoidexcess AT hamadbajes twoqatarisiblingswithcysticfibrosisandapparentmineralocorticoidexcess AT imamabubakr twoqatarisiblingswithcysticfibrosisandapparentmineralocorticoidexcess |