Clinical evaluation of Mendelian hypertensive and hypotensive disorders.
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.
Geller
David S
DS
Section of Nephrology, Yale University School of Medicine, New Haven, CT 06520-8029, USA. david.geller@yale.edu
D005820:Genetic Testing; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D007022:Hypotension / Q000235:genetics*; D010641:Phenotype; D015499:Renal Tubular Transport, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology