Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hypertension

The disease is defined by elevated systolic or diastolic blood pressure that is associated with increased risk for cardiovascular and renal disease. The disease might be primary, genetically determined or secondary to renal, edocrinological or neurological diseases.

Test Strategy

First, a secondary hypertension has to be excluded. Next, it should be proved if there were signs of some monogenic form of hypertension. Last, genetic risks have to be evaluated.

Clinical Findings

In most cases hypertension is asymptomatic when recognized. Patients rather start complaining when blood pressure is lowered too abruptly. Family history, however, reveals several members with not only elevated blood pressure but also stroke and other cardiovascular diseases resulting from untreated hypertension.

Pathogenesis

Pathogenetic aspects of primary hypertension can be divided into three groups: monogenic forms of hereditary hypertension. mutations and polymorphisms associated with increased risk of hypertension. genetic variations responsible for increased susceptibility to hypertensive complications.

Systematic

Hereditary diseases
Hereditary broncho-pulmonary disease
Hereditary cardiac disease
Hereditary dermatological disorders
Hereditary diseases of the hematopoetic system and coagulopathies
Hereditary endocrinological diseases
Hereditary immunological disorders
Hereditary kidney diseases
Hereditary liver disease
Hereditary malformations
Hereditary metabolic diseases
Hereditary musculoskeletal diseases
Hereditary neurological disorders
Hereditary ocular disease and visual impairment
Hereditary otorhinolaryngological disorders
Hereditary pancreatic disease
Hereditary susceptibility to infections
Hereditary tumors
Hereditary vascular disease
Hypertension
ACE
ACE2
AGT
Benign hyperproreninemia
REN
Monogenic hypertension
Apparent mineralocorticoid excess
HSD11B2
Glucocorticoid triggered hypertension
NR3C1
Hyperaldosteronism
Conn syndrome
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5
Glucocorticoid triggered hypertension
NR3C1
Hyperaldosteronism type 1
CYP11B1
CYP11B2
Hyperaldosteronism type 2
Hyperaldosteronism type 3
KCNJ5
Hyperaldosteronism type 4
CACNA1D
CACNA1H
Hypertension and brachydactyly syndrome
PDE3A
Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
CUL3
KLHL3
WNK1
WNK4
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Preeclampsia
APOL1
Preeclampsia 1
Preeclampsia 2
Preeclampsia 3
Preeclampsia 4
STOX1
Preeclampsia 5
CORIN
Salt-sensitive essential hypertension
CYP3A5
VEGFC

References:

1.

Barlassina C et al. (2002) Genetics of essential hypertension: from families to genes.

[^]
2.

None (2003) Susceptibility genes for hypertension and renal failure.

[^]
3.

Orphanet article

Orphanet ID 178503 [^]
4.

Wikipedia article

Wikipedia EN (Hypertension) [^]
Update: May 9, 2019