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...
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doaj-0e6cbdca8407475d8a8fbf905afb7aff2020-11-24T22:47:09ZengWolters Kluwer Medknow PublicationsAnnals of Thoracic Medicine1817-17371998-35572015-01-01101697210.4103/1817-1737.146892Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excessKhalid ZahraldinIbrahim Ahmed JanahiTawfeg Ben-OmranReem AlsulaimanBajes HamadAbubakr ImamCystic 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.http://www.thoracicmedicine.org/article.asp?issn=1817-1737;year=2015;volume=10;issue=1;spage=69;epage=72;aulast=ZahraldinApparent mineralocorticoid excessautosomal recessiveArabcystic fibrosisQatar |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Khalid Zahraldin Ibrahim Ahmed Janahi Tawfeg Ben-Omran Reem Alsulaiman Bajes Hamad Abubakr Imam |
spellingShingle |
Khalid Zahraldin Ibrahim Ahmed Janahi Tawfeg Ben-Omran Reem Alsulaiman Bajes Hamad Abubakr Imam Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess Annals of Thoracic Medicine Apparent mineralocorticoid excess autosomal recessive Arab cystic fibrosis Qatar |
author_facet |
Khalid Zahraldin Ibrahim Ahmed Janahi Tawfeg Ben-Omran Reem Alsulaiman Bajes Hamad Abubakr Imam |
author_sort |
Khalid Zahraldin |
title |
Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess |
title_short |
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_sort |
two qatari siblings with cystic fibrosis and apparent mineralocorticoid excess |
publisher |
Wolters Kluwer Medknow Publications |
series |
Annals of Thoracic Medicine |
issn |
1817-1737 1998-3557 |
publishDate |
2015-01-01 |
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. |
topic |
Apparent mineralocorticoid excess autosomal recessive Arab cystic fibrosis Qatar |
url |
http://www.thoracicmedicine.org/article.asp?issn=1817-1737;year=2015;volume=10;issue=1;spage=69;epage=72;aulast=Zahraldin |
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