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

Area of Science:

• Nephrology
• Genetics
• Cardiology

Background:

• Familial dysautonomia (Riley Day syndrome) is a genetic disorder characterized by unstable blood pressure due to baroreflex dysfunction.
• Chronic kidney disease is common in FD, often attributed to hypotension and renal hypoperfusion, despite aggressive treatment.
• The relationship between blood pressure abnormalities and renal disease severity in FD requires further investigation.

Purpose of the Study:

• To determine the frequency of kidney malformations in familial dysautonomia patients.
• To assess the impact of hypertension, hypotension, and blood pressure variability on renal impairment.
• To investigate the effect of fludrocortisone on the progression of kidney disease in FD.

Main Methods:

• Evaluation of kidney malformations, including hydronephrosis, reflux, and patterning defects.
• Correlation analysis between blood pressure parameters (hypertension, hypotension, variability) and estimated glomerular filtration rate (eGFR).
• Longitudinal assessment of renal disease progression in patients treated with fludrocortisone.

Main Results:

• Increased incidence of hydronephrosis/reflux and patterning defects observed in FD patients.
• Hypertension and greater blood pressure variability were significantly associated with worse renal function (lower eGFR).
• Fludrocortisone treatment was linked to faster progression of renal disease; no association found between hypotension and renal impairment.

Conclusions:

• Hypertension and blood pressure variability, not hypotension, are key factors in renal disease development and progression in familial dysautonomia.
• Fludrocortisone treatment may accelerate kidney disease progression in FD patients.
• Early identification and management of hypertension and blood pressure variability are crucial for preserving renal function in FD.