Cardiovascular instability is a prominent manifestation of familial dysautonomia [FD] while renal insufficiency occurs in a large number of adult FD patients. To determine if there was a causative relationship, renal artery blood flow velocity using Doppler technology, was recorded and the ratio of the peak systolic velocity (point A) to the end diastolic velocity (point B) was calculated. The A/B ratio was assessed in response to change of position and exercise, and was correlated with renal function, heart rate and systemic blood pressure. Studies were performed in 54 FD patients with a mean age of 24 years ± 9.8 years, and 20 controls, with a mean age of 24.7 years ± 7.6 years.
In the supine position, the mean A/B ratios were not significantly different, but FD subjects had a significantly higher mean blood pressure and heart rate than controls. When erect and post exercise, the mean A/B ratios in FD subjects were significantly higher than controls,p = 0.0004 andp = 0.0001, respectively. In contrast to controls, when FD subjects were standing erect and post exercise, mean blood pressure decreased significantly without a significant change in heart rate. When FD subjects were divided into two groups based on their creatinine clearance value, the group with the lower creatinine clearances had a significantly greater fall in diastolic pressure when they moved from the supine to the erect position. Our results indicate that noninvasive Doppler techniques are helpful in detecting changes in renal blood flow in subjects with familial dysautonomia. When the A/B ratio is used as an index of renal vascular resistance, renal perfusion decreases in FD subjects while erect and post exercise. The changes in renal haemodynamics may cause ischaemia with eventual development of renal insuffiiciency.
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Axelrod, F.B., Glickstein, J.S., Weider, J. et al. The effects of postural change and exercise on renal haemodynamics in familial dysautonomia. Clinical Autonomic Research 3, 195–200 (1993). https://doi.org/10.1007/BF01826233
- Autonomic dysfunction
- blood pressure