Living with Nephropathy - deafness - hyperparathyroidism syndrome
A rare inherited condition with kidney failure, overactive parathyroid glands, and hearing loss, starting in childhood.
Understanding Nephropathy - deafness - hyperparathyroidism syndrome
People have kidney failure without blood in the urine, overactive parathyroid glands (hyperparathyroidism), and hearing loss from inner ear problems. GARD lists onset in childhood. There have been no further descriptions in the medical literature since 1989.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Reduced kidney function
- Kidney filter disease (glomerulopathy)
- High parathyroid hormone (hyperparathyroidism)
- Hearing loss (sensorineural)
- Bone cysts
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD says changes in genes cause this condition. A child inherits a changed copy of a gene from each parent (autosomal recessive).
Also known as: edwards-patton-dilly syndrome; nephropathy-deafness-hyperparathyroidism syndrome; nephropathy-hearing loss-hyperparathyroidism syndrome; nephropathy, deafness, and hyperparathyroidism
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Nephropathy - deafness - hyperparathyroidism syndrome.
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