Section of Nephrology, Yale University School of Medicine, New Haven, CT 06520-8029, USA.
Semin Nephrol. 2010 Jul;30(4):387-94. doi: 10.1016/j.semnephrol.2010.06.005.
The elucidation of the molecular bases of a number of Mendelian disorders with primary effect on blood pressure has enabled improved recognition and diagnosis of these rare disorders. Prompt diagnosis can be a vital and perhaps lifesaving component of care for patients who present with unexplained and perhaps familial hypertension or hypotension. Formal diagnosis of these disorders may require DNA sequencing, which often is not immediately available. Here, clinical clues enabling diagnosis of these various disorders are reviewed.
阐明了一些孟德尔疾病的分子基础,这些疾病主要影响血压,从而提高了对这些罕见疾病的认识和诊断。对于出现不明原因且可能具有家族性高血压或低血压的患者,及时诊断可能是至关重要的,甚至可能是救命的治疗组成部分。这些疾病的正式诊断可能需要进行 DNA 测序,但通常无法立即进行。本文回顾了有助于诊断这些各种疾病的临床线索。