Living with Hypoparathyroidism, deafness, renal disease syndrome
A genetic condition, also called Barakat syndrome, with low parathyroid hormone, hearing loss, and kidney disease.
Understanding Hypoparathyroidism, deafness, renal disease syndrome
It involves hypoparathyroidism, sensorineural hearing loss, and kidney disease. About 65% of people have all three, and others have combinations. Low parathyroid hormone leads to low calcium, which can cause muscle pain, spasms, and seizures. Hearing loss is the most consistent feature, in both ears and from moderate to profound. Kidney disease varies from person to person.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low parathyroid hormone (hypoparathyroidism)
- Hearing loss that worsens
- Kidney differences (renal dysplasia)
- Swollen kidneys (hydronephrosis)
- Kidney function problems
- Urine flowing backward (vesicoureteral reflux)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, genetic specialists, hormone specialists and kidney specialists.
- 3Consider genetic testing
Changes in GATA3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
HypoPARAthyroidism Association, Inc. may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: HypoPARAthyroidism Association, Inc.
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with HypoPARAthyroidism Association, Inc. and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Most cases are caused by changes in the GATA3 gene, or by a missing piece of chromosome 10 that includes GATA3. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it. In some cases the cause is unknown.
Also known as: barakat syndrome; hdr (hypoparathyroidism, sensorineural deafness, renal disease) syndrome; hdr syndrome; hdrs; hypoparathyroidism-deafness-renal disease syndrome; hypoparathyroidism-sensorineural deafness-renal disease syndrome
Patient organizations
- HypoPARAthyroidism Association, Inc.Hypoparathyroidism, deafness, renal disease syndrome · United States
- American Association of Kidney PatientsHypoparathyroidism, deafness, renal disease syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypoparathyroidism, deafness, renal disease syndrome.
Explore research for Hypoparathyroidism, deafness, renal disease syndrome
Explore actively recruiting Hypoparathyroidism, deafness, renal disease syndrome studies with HealthSpark.
Find actively recruiting studies for Hypoparathyroidism, deafness, renal disease syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Hypoparathyroidism, deafness, renal disease syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Hypoparathyroidism, deafness, renal disease syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Hypoparathyroidism, deafness, renal disease syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.