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

Journal of Human Hypertension volume 27, pages 51–55 (2013)Cite this article

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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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Acknowledgements

This work was supported by a grant from the Dysautonomia Foundation, Inc. the National Institutes of Health (U54-NS065736-01) and FDA Office of Rare Diseases (R01-FD003731-01).

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Authors and Affiliations

  1. Department of Physiology and Neuroscience, New York University School of Medicine, New York, NY, USA

    L Norcliffe-Kaufmann

  2. Department of Neurology, New York University School of Medicine, New York, NY, USA

    F B Axelrod & H Kaufmann

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  1. L Norcliffe-Kaufmann
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  2. F B Axelrod
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Correspondence to H Kaufmann.

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Competing interests

Dr Norcliffe-Kaufmann receives research support from the NIH and the FDA. Dr Axelrod receives research support from the Dysautonomia Foundation, Inc. Dr Kaufmann serves on a scientific advisory board for Chelsea Therapeutics; serves as Editor-in-Chief of Clinical Autonomic Research; and receives research support from the NIH, the FDA, and the Dysautonomia Foundation, Inc.

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Norcliffe-Kaufmann, L., Axelrod, F. & Kaufmann, H. Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome. J Hum Hypertens 27, 51–55 (2013). https://doi.org/10.1038/jhh.2011.107

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