Living with Familial steroid-resistant nephrotic syndrome with sensorineural deafness
A rare genetic condition with kidney disease that doesn't respond to steroids and hearing loss, beginning in infancy.
Understanding Familial steroid-resistant nephrotic syndrome with sensorineural deafness
It starts in infancy with protein in the urine, low albumin, and swelling, and can lead to end-stage kidney disease. The kidney problem does not respond to steroid medicine. Rarely, people have seizures, poor coordination, or differences in facial features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Nephrotic syndrome that doesn't respond to steroids
- Hearing loss (sensorineural)
- Scarring in the kidney filters (FSGS)
- Advanced kidney disease (stage 5)
- Protein in the urine and swelling
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 brain and nervous system specialists, ear, nose, and throat specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in COQ6 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
NephCure Kidney International, Epilepsy Foundation and United Mitochondrial Disease Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: NephCure Kidney International, Epilepsy Foundation, United Mitochondrial Disease Foundation
- 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 NephCure Kidney International 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
Changes in the COQ6 gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: coenzyme q10 deficiency, primary, type 6; familial steroid-resistant nephrotic syndrome with sensorineural hearing loss
Patient organizations
- NephCure Kidney InternationalFamilial steroid-resistant nephrotic syndrome with sensorineural deafness · United States
- Epilepsy FoundationEpilepsy · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial steroid-resistant nephrotic syndrome with sensorineural deafness.
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