Donate
background participants

Participant 181


On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.

Female, age 24, with chronic high blood pressure (hypertension) and autonomic nervous system dysfunction (dysautonomia)

Date of Report

Jun 03, 2021

Description

At 15 years old, the participant began experiencing high blood pressure (hypertension). Over the next 8 years, she was prescribed up to 6 different medications to regulate her high blood pressure. The participant was also found to have autonomic nervous system dysfunction (dysautonomia). She experienced side effects from high blood pressure (hypertensive retinopathy) as well.

The participant has a family history of high blood pressure on both sides of her family, but no one has severe and early-onset high blood pressure like she does.

Symptoms / Signs
  • High blood pressure (hypertension)
  • Autonomic nervous system dysfunction (abnormal autonomic nervous system physiology)
  • Low potassium (hypokalemia)
Current Treatments

Treatments for high blood pressure:

  • Amlodipine
  • Amiloride
  • Benazepril
  • Hydralazine
  • Propranolol
Prior Treatments
  • Florinef (fludrocortisone) – dysautonomia
  • Clonidine – high blood pressure
  • Guanfacine – high blood pressure
Considered treatments
  • Renal denervation
  • IVIg
Previously Considered Diagnoses
  • Dysautonomia syndromes (Riley-Day syndrome, Hereditary Sensory Autonomic Neuropathy Type III)
  • Monogenic hypertension syndromes
  • Pheochromocytoma
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
ANKRD17
Unknown
chr4:g.74014689G>A
NM_032217.4
c.1408C>T
p.Pro470Ser
Contact

If this participant sounds like you or someone you know, please contact us!

Disclaimer

The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.

Top