Erger, Florian 
ORCID: 0000-0002-2768-1702
(2018).
Monogenic forms of arterial hypertension.
Med. Genet., 30 (4).
S. 391 - 400.
HEIDELBERG:
SPRINGER HEIDELBERG.
ISSN 1863-5490
Abstract
Background. The cause of arterial hypertension in most patients is multifactorial, largely influenced by environmental factors, and currently not testable in routine molecular genetic diagnostics to a clinically useful degree. In a small subset of patients (< 1%) however, arterial hypertension is a consequence of hereditary monogenic defects. These include Liddle syndrome, familial hyperaldosteronism, apparent mineralocorticoid excess, and pseudohypoal-dosteronism. Pathomechanistically, these and other hereditary forms of hypertension can be traced back to disturbances in the renal regulatory systems of electrolyte and volume homeostasis. Objectives. The currently known types of hereditary hypertension are explained in a simplified, mechanistically oriented way. This review will also focus on the clinical presentation of the forms of hereditary hypertension discussed and the therapeutic considerations that may arise directly from the molecular genetic testing results. A selection of additional genetic syndromes in which arterial hypertension is a secondary manifestation will be summarized. Conclusions. The correct diagnosis of a patient with a form of the hereditary hypertension described here enables a targeted and effective pharmacological therapy based on the now generally well-understood pathomechanisms.
| Item Type: | Journal Article | ||||||||
| Creators: |
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| URN: | urn:nbn:de:hbz:38-162820 | ||||||||
| DOI: | 10.1007/s11825-018-0217-z | ||||||||
| Journal or Publication Title: | Med. Genet. | ||||||||
| Volume: | 30 | ||||||||
| Number: | 4 | ||||||||
| Page Range: | S. 391 - 400 | ||||||||
| Date: | 2018 | ||||||||
| Publisher: | SPRINGER HEIDELBERG | ||||||||
| Place of Publication: | HEIDELBERG | ||||||||
| ISSN: | 1863-5490 | ||||||||
| Language: | German | ||||||||
| Faculty: | Unspecified | ||||||||
| Divisions: | Unspecified | ||||||||
| Subjects: | no entry | ||||||||
| Uncontrolled Keywords: |
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| Refereed: | Yes | ||||||||
| URI: | http://kups.ub.uni-koeln.de/id/eprint/16282 |
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