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Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome.

Norcliffe-Kaufmann L, Axelrod FB, Kaufmann H - J Hum Hypertens (2011)

Bottom Line: We also investigated the effect of fludrocortisone treatment on the progression of renal disease.Patients with more severe hypertension and greater variability in their blood pressure had worse renal function (both, P<0.01).Moreover, increased blood pressure variability as well as mineralocorticoid treatment accelerate the progression of renal disease.

View Article: PubMed Central - PubMed

Affiliation: Department of Physiology and Neuroscience, New York University School of Medicine, New York, NY, USA. horacio.kaufmann@nyumc.org

ABSTRACT
Riley Day syndrome, commonly referred to as familial dysautonomia (FD), is a genetic disease with extremely labile blood pressure owing to baroreflex deafferenation. Chronic renal disease is very frequent in these patients and was attributed to recurrent arterial hypotension and renal hypoperfusion. Aggressive treatment of hypotension, however, has not reduced its prevalence. We evaluated the frequency of kidney malformations as well as the impact of hypertension, hypotension and blood pressure variability on the severity of renal impairment. We also investigated the effect of fludrocortisone treatment on the progression of renal disease. Patients with FD appeared to have an increased incidence of hydronephrosis/reflux and patterning defects. Patients <4 years old had hypertension and normal estimated glomerular filtration rates (eGFR). Patients with more severe hypertension and greater variability in their blood pressure had worse renal function (both, P<0.01). In contrast, there was no relationship between eGFR and the lowest blood pressure recorded during upright tilt. The progression of renal disease was faster in patients receiving fludrocortisone (P<0.02). Hypertension precedes kidney disease in these patients. Moreover, increased blood pressure variability as well as mineralocorticoid treatment accelerate the progression of renal disease. No association was found between hypotension and renal disease in patients with FD.

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5-year rate of progression of renal disease in patients treated with fludrocortisone and those notBlack squares show average yearly estimated glomerular filtration rates (eGFR) and mean blood pressures (MBP) in 14 patients who began treatment with 0.2 mg of fludrocortisone per day at age 16 and continued on the same dose until age 21. Grey squares show average GFR and MBP between the ages of 16 to 21 in 13 patients with FD who did not receive fludrocortisone. ** p<0.02 (ANOVA)
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Figure 3: 5-year rate of progression of renal disease in patients treated with fludrocortisone and those notBlack squares show average yearly estimated glomerular filtration rates (eGFR) and mean blood pressures (MBP) in 14 patients who began treatment with 0.2 mg of fludrocortisone per day at age 16 and continued on the same dose until age 21. Grey squares show average GFR and MBP between the ages of 16 to 21 in 13 patients with FD who did not receive fludrocortisone. ** p<0.02 (ANOVA)

Mentions: Blood pressure variability is thought to have an important role in the progression of organ damage. All patients who underwent ABP monitoring showed very pronounced variability in their blood pressure. The coefficient of variation, a measure of blood pressure variability that takes into account the underlying mean blood pressure, was inversely correlated with eGFR (Fig. 3). The highest SBP value captured in the recording correlated with eGFR, but the lowest did not (R). Out of the 24 hours, patients were hypertensive (SBP >140 mmHg) 50±4% and hypotensive (SBP <80 mmHg) 1.2±0.5% of the time. The percentage time spent with SBP in the hypertensive range correlated with eGFR while the time with hypotension did not. This suggests that it is the degree of hypertension and the amount of time spent hypertensive that are factors associated with renal disease.


Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome.

Norcliffe-Kaufmann L, Axelrod FB, Kaufmann H - J Hum Hypertens (2011)

5-year rate of progression of renal disease in patients treated with fludrocortisone and those notBlack squares show average yearly estimated glomerular filtration rates (eGFR) and mean blood pressures (MBP) in 14 patients who began treatment with 0.2 mg of fludrocortisone per day at age 16 and continued on the same dose until age 21. Grey squares show average GFR and MBP between the ages of 16 to 21 in 13 patients with FD who did not receive fludrocortisone. ** p<0.02 (ANOVA)
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3318957&req=5

Figure 3: 5-year rate of progression of renal disease in patients treated with fludrocortisone and those notBlack squares show average yearly estimated glomerular filtration rates (eGFR) and mean blood pressures (MBP) in 14 patients who began treatment with 0.2 mg of fludrocortisone per day at age 16 and continued on the same dose until age 21. Grey squares show average GFR and MBP between the ages of 16 to 21 in 13 patients with FD who did not receive fludrocortisone. ** p<0.02 (ANOVA)
Mentions: Blood pressure variability is thought to have an important role in the progression of organ damage. All patients who underwent ABP monitoring showed very pronounced variability in their blood pressure. The coefficient of variation, a measure of blood pressure variability that takes into account the underlying mean blood pressure, was inversely correlated with eGFR (Fig. 3). The highest SBP value captured in the recording correlated with eGFR, but the lowest did not (R). Out of the 24 hours, patients were hypertensive (SBP >140 mmHg) 50±4% and hypotensive (SBP <80 mmHg) 1.2±0.5% of the time. The percentage time spent with SBP in the hypertensive range correlated with eGFR while the time with hypotension did not. This suggests that it is the degree of hypertension and the amount of time spent hypertensive that are factors associated with renal disease.

Bottom Line: We also investigated the effect of fludrocortisone treatment on the progression of renal disease.Patients with more severe hypertension and greater variability in their blood pressure had worse renal function (both, P<0.01).Moreover, increased blood pressure variability as well as mineralocorticoid treatment accelerate the progression of renal disease.

View Article: PubMed Central - PubMed

Affiliation: Department of Physiology and Neuroscience, New York University School of Medicine, New York, NY, USA. horacio.kaufmann@nyumc.org

ABSTRACT
Riley Day syndrome, commonly referred to as familial dysautonomia (FD), is a genetic disease with extremely labile blood pressure owing to baroreflex deafferenation. Chronic renal disease is very frequent in these patients and was attributed to recurrent arterial hypotension and renal hypoperfusion. Aggressive treatment of hypotension, however, has not reduced its prevalence. We evaluated the frequency of kidney malformations as well as the impact of hypertension, hypotension and blood pressure variability on the severity of renal impairment. We also investigated the effect of fludrocortisone treatment on the progression of renal disease. Patients with FD appeared to have an increased incidence of hydronephrosis/reflux and patterning defects. Patients <4 years old had hypertension and normal estimated glomerular filtration rates (eGFR). Patients with more severe hypertension and greater variability in their blood pressure had worse renal function (both, P<0.01). In contrast, there was no relationship between eGFR and the lowest blood pressure recorded during upright tilt. The progression of renal disease was faster in patients receiving fludrocortisone (P<0.02). Hypertension precedes kidney disease in these patients. Moreover, increased blood pressure variability as well as mineralocorticoid treatment accelerate the progression of renal disease. No association was found between hypotension and renal disease in patients with FD.

Show MeSH
Related in: MedlinePlus