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Hypertension- One ize does not fit all
Although the vast majority of hypertension is "essential," some may be secondary. And, an accurate diagnosis of secondary cause of hypertension provides the treating clinician with a unique opportunity that renders dramatic response to the patient, either with pharmacologic therapy or surg...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8722558/ https://www.ncbi.nlm.nih.gov/pubmed/35068762 http://dx.doi.org/10.4103/ijn.IJN_277_20 |
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author | Subashri, Mohanasundaram Fernando, M. Edwin Thirumalvalavan, K. |
author_facet | Subashri, Mohanasundaram Fernando, M. Edwin Thirumalvalavan, K. |
author_sort | Subashri, Mohanasundaram |
collection | PubMed |
description | Although the vast majority of hypertension is "essential," some may be secondary. And, an accurate diagnosis of secondary cause of hypertension provides the treating clinician with a unique opportunity that renders dramatic response to the patient, either with pharmacologic therapy or surgery. One such secondary cause of hypertension is congenital adrenal hyperplasia due to 11 beta hydroxylase or 17 alpha hydroxylase deficiency. These inherited syndromes are caused by deficient adrenal corticosteroid biosynthesis, in which there is reduced negative feedback inhibition of cortisol and, depending on the steroidogenic pathway involved, an alteration in adrenal mineralocortiocoid and androgen secretion occurs. Here, we present, a young adult presented with hypertension, in association with hypokalemia and metabolic alkalosis, who was diagnosed with congenital adrenal hyperplasia (CAH) due to non-classical variant 11-beta hydroxylase deficiency, which responded dramatically to steroids therapy. Furthermore, we also report two new mis-sense mutations in CYP11B1 gene, a gene coding for 11-betahydroxylase enzyme. |
format | Online Article Text |
id | pubmed-8722558 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-87225582022-01-20 Hypertension- One ize does not fit all Subashri, Mohanasundaram Fernando, M. Edwin Thirumalvalavan, K. Indian J Nephrol Case Report Although the vast majority of hypertension is "essential," some may be secondary. And, an accurate diagnosis of secondary cause of hypertension provides the treating clinician with a unique opportunity that renders dramatic response to the patient, either with pharmacologic therapy or surgery. One such secondary cause of hypertension is congenital adrenal hyperplasia due to 11 beta hydroxylase or 17 alpha hydroxylase deficiency. These inherited syndromes are caused by deficient adrenal corticosteroid biosynthesis, in which there is reduced negative feedback inhibition of cortisol and, depending on the steroidogenic pathway involved, an alteration in adrenal mineralocortiocoid and androgen secretion occurs. Here, we present, a young adult presented with hypertension, in association with hypokalemia and metabolic alkalosis, who was diagnosed with congenital adrenal hyperplasia (CAH) due to non-classical variant 11-beta hydroxylase deficiency, which responded dramatically to steroids therapy. Furthermore, we also report two new mis-sense mutations in CYP11B1 gene, a gene coding for 11-betahydroxylase enzyme. Wolters Kluwer - Medknow 2021 2021-11-13 /pmc/articles/PMC8722558/ /pubmed/35068762 http://dx.doi.org/10.4103/ijn.IJN_277_20 Text en Copyright: © 2021 Indian Journal of Nephrology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Subashri, Mohanasundaram Fernando, M. Edwin Thirumalvalavan, K. Hypertension- One ize does not fit all |
title | Hypertension- One ize does not fit all |
title_full | Hypertension- One ize does not fit all |
title_fullStr | Hypertension- One ize does not fit all |
title_full_unstemmed | Hypertension- One ize does not fit all |
title_short | Hypertension- One ize does not fit all |
title_sort | hypertension- one ize does not fit all |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8722558/ https://www.ncbi.nlm.nih.gov/pubmed/35068762 http://dx.doi.org/10.4103/ijn.IJN_277_20 |
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