Branchio-oto-renal (BOR) dysplasia is a genetic condition that affects the neck (branchial area), the ears (hearing system), and the kidneys. Children or adults may have small pits or cysts in the side of the neck or in front of the ear, ear shape changes, hearing loss (conductive, sensorineural, or mixed), and kidney problems that range from mild changes to serious disease. BOR is usually passed down in families in an autosomal dominant pattern. Changes in three genes are most common: EYA1, SIX1, and SIX5. Diagnosis is based on the pattern of features, hearing tests, kidney imaging, and sometimes gene testing. Care focuses on protecting hearing, preventing infection, and preserving kidney function over time. NCBI+2MedlinePlus+2
Branchio-otorenal dysplasia is a genetic condition that affects the neck (branchial area), the ears (oto), and the kidneys/urinary system (renal). Children and adults with this condition can have small pits or cysts on the neck, tiny holes in front of the ears, changes in the shape or structure of the outer, middle, or inner ear, hearing loss, and kidney problems that range from mild to severe. The condition is usually autosomal dominant, which means a person needs one changed copy of a gene to have the disorder. The most common gene is EYA1. Changes in SIX1 also cause the condition in some families. Symptoms can be different even within the same family. Some people have mainly ear findings; others have serious kidney disease. Doctors diagnose this condition based on the pattern of symptoms and confirm it with genetic testing. Early hearing care and kidney care help prevent complications and improve quality of life.
Other names
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Branchio-oto-renal syndrome (BOR syndrome)
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Branchio-oto-renal spectrum disorder (BORSD)
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Branchio-otic syndrome (BOS; when kidney problems are absent)
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Melnick–Fraser syndrome
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BOR type 1 (EYA1-related), BOR type 3 (SIX1-related)
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OMIM entries often appear as BOR/BOS with gene numbers (e.g., EYA1-related BOR)
Types
1) BOR (Branchio-Oto-Renal) type.
This type includes ear findings (pits near the ear, ear shape differences, middle/inner ear differences, and hearing loss) plus kidney/urinary changes (for example, small kidneys, kidneys that work less well, or reflux of urine). Many people in published studies fall into this group.
2) BOS (Branchio-Ot ic) type.
This type includes the branchial/ear features without kidney disease. A person may have neck pits or cysts, preauricular pits, and hearing loss, but the kidneys look normal on tests.
3) Gene-defined subtypes.
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EYA1-related (the most common). This is the classic form seen in many families.
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SIX1-related (less common). Ear findings and hearing loss are frequent; kidney findings can occur but are sometimes milder or less frequent than in EYA1.
(Older reports mention SIX5, but later studies question how strongly SIX5 is involved; EYA1 and SIX1 are the best-supported genes.)
Causes
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Pathogenic variants in EYA1.
A disease-causing change (variant) in one copy of the EYA1 gene disrupts a protein needed for ear, neck, and kidney development. This is the main known cause. -
Pathogenic variants in SIX1.
A change in one copy of SIX1 can disturb the EYA–SIX transcription complex. This leads to similar features to EYA1-related disease. -
Haploinsufficiency.
Having only one working copy of EYA1 (or SIX1) is not enough for normal development. That shortage causes the symptoms. -
Missense variants.
A single “letter” change in DNA that swaps one amino acid for another may reduce protein function or its ability to bind partner proteins. -
Nonsense/frameshift variants.
These create shortened or faulty proteins and often lead to loss of function. -
Splice-site variants.
Changes at intron–exon borders can make the cell cut and paste the gene message incorrectly, producing a faulty protein. -
Whole-gene or multi-exon deletions/duplications (copy-number changes).
Losing or gaining chunks of the gene decreases or increases dosage in a harmful way. -
De novo variants.
A new variant appears for the first time in the child (not present in either parent). This explains cases without a family history. -
Parental mosaicism.
A parent may carry the variant in some cells but show few or no symptoms, yet still pass it on. -
Regulatory-region variants.
Changes outside the coding part (promoters/enhancers) can switch the gene on/off at the wrong time in development. -
Protein–protein interaction failure (EYA–SIX complex).
EYA and SIX proteins work together as a complex. Variants that weaken this partnership disturb organ formation. -
Disrupted otic placode development.
The inner ear forms from a tiny patch of tissue called the otic placode. Faulty gene signals here lead to ear malformations and hearing loss. -
Abnormal branchial arch development.
Problems in second branchial arch development cause neck pits or cysts (branchial cleft anomalies). -
Neural crest cell signaling errors.
EYA/SIX pathways influence craniofacial development; disturbances can shape ear and neck features. -
Renal morphogenesis defects.
Kidneys require precise gene signals to branch and form. EYA/SIX disruptions lead to small, dysplastic, or missing kidneys. -
Modifier genes.
Other genes can change how severe the condition looks, even with the same main variant. -
Epigenetic effects.
Chemical changes to DNA packaging can alter gene activity and modify the presentation. -
Oligogenic influences (rare).
In a few families, more than one gene may contribute to the final picture. -
Variable penetrance.
Not everyone with a disease-causing variant shows all features; some show only one or two signs. -
Environmental modifiers during development (indirect).
While BOR is genetic, early developmental influences (e.g., general in-utero stresses) may modify how severe features become. They do not cause BOR but can shape its expression.
Symptoms and signs
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Preauricular pits.
Tiny holes in front of the ear. They are harmless but can get infected and drain. -
Branchial cleft pits, sinuses, or cysts in the neck.
Small openings, tracts, or soft lumps on the side of the neck that may swell or drain fluid, especially during infections. -
Outer ear shape differences.
Ears may look smaller, cup-shaped, or have unusual folds. This does not harm by itself but suggests ear development changes. -
Hearing loss (conductive).
Sound cannot pass well through the outer/middle ear because bones or eardrum are different. Hearing aids or surgery can help. -
Hearing loss (sensorineural).
The inner ear or hearing nerve does not work well. This type often needs hearing aids or cochlear implants. -
Hearing loss (mixed).
Both conductive and sensorineural problems are present. -
Ear infections or fluid in the middle ear.
Anatomy differences can lead to repeated infections or fluid, which can worsen hearing for a time. -
Tinnitus or balance issues (less common).
Inner-ear changes can cause ringing in the ear or dizziness in some people. -
Kidney hypoplasia or dysplasia.
The kidneys are smaller or formed abnormally. This can reduce kidney function over time. -
Vesicoureteral reflux (VUR).
Urine flows backward from bladder to kidney. This raises infection risk and can slowly harm kidneys if untreated. -
Hydronephrosis.
Kidney swelling because urine does not drain well. This shows up on ultrasound. -
High blood pressure from kidney disease.
If kidneys are damaged, blood pressure can rise. This needs monitoring and treatment. -
Urinary infections (especially in children).
Reflux or abnormal flow can cause repeated UTIs, sometimes with fever. -
Facial or jaw asymmetry (sometimes).
Mild differences in face or jaw structure may occur due to branchial arch development issues. -
Family history with similar features.
A parent or relatives may have ear pits, hearing loss, or kidney problems. Family history is a key clue.
Diagnostic tests
A) Physical examination
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Head and neck inspection by a clinician.
The doctor looks for ear pits, neck pits/cysts, ear shape, and facial symmetry. These visible signs are important clues that point toward BOR/BOS. -
Otoscopy.
The doctor looks inside the ear canal and at the eardrum. They check for fluid, scarring, or structural differences that can cause conductive hearing loss. -
Neck palpation and transillumination of neck lumps.
Gentle pressing helps locate branchial cysts or tracts. A light shone through a cyst can show fluid. This guides imaging or surgery planning. -
Blood pressure measurement.
High blood pressure can be an early sign of kidney problems. It is simple but important in children and adults with BOR.
B) Manual bedside hearing tests
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Rinne tuning-fork test.
This bedside test compares bone vs air conduction. A “bone-better-than-air” result suggests conductive loss. -
Weber tuning-fork test.
Sound heard louder in one ear helps localize conductive loss or asymmetry in sensorineural loss. -
Clinical bedside whisper/voice tests.
Simple checks of hearing ability that can suggest the need for formal audiology testing.
C) Laboratory and pathological tests
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Serum creatinine and calculated eGFR.
These blood tests estimate kidney filtering function. Low eGFR or rising creatinine suggests kidney impairment. -
Blood urea nitrogen (BUN) and electrolytes.
These help assess kidney function and hydration. Abnormal levels may signal chronic kidney disease. -
Urinalysis (dipstick and microscopy).
Checks for blood, protein, leukocytes, or bacteria. Protein or blood suggests kidney damage; bacteria points to infection. -
Urine culture (if UTI suspected).
Shows which germ is present and which antibiotics will work. -
Genetic testing: EYA1 and SIX1 sequencing with deletion/duplication analysis.
This is the main confirmatory test. It looks for variants in the known genes and also checks for missing or extra exons. -
Expanded multigene panel or exome/genome sequencing (when first-line is negative).
If standard tests are negative but clinical features are strong, broader sequencing can find rare or unexpected variants and define recurrence risks.
D) Electrodiagnostic and physiologic hearing tests
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Pure-tone audiometry and speech audiometry.
Formal hearing tests measure the quietest sounds a person can hear and how clearly they understand words. They define the type and degree of hearing loss. -
Tympanometry and acoustic reflex testing.
These tests evaluate eardrum movement and middle ear pressure. They help separate conductive from sensorineural causes. -
Auditory brainstem response (ABR) and/or otoacoustic emissions (OAE).
ABR checks the hearing nerve pathway using small electrodes; OAE measures inner-ear hair cell function. These are useful in infants and in unclear cases.
E) Imaging studies
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Renal and urinary tract ultrasound.
First-line imaging for kidneys and bladder. It shows kidney size, shape, and hydronephrosis and helps screen for structural differences. -
Voiding cystourethrogram (VCUG).
An X-ray test done while the bladder fills and empties. It detects vesicoureteral reflux, a common problem in BOR. -
CT of the temporal bones (ears).
A detailed X-ray study of the ear bones and middle ear structures. It shows ossicle differences, stapes fixation, enlarged vestibular aqueducts, and other anatomy that explains conductive or mixed hearing loss. -
MRI of the inner ear and/or brainstem (when indicated).
Shows cochlear nerve and inner-ear structures in detail. Helpful when considering cochlear implantation or when ABR suggests a nerve problem.
Non-pharmacological treatments (therapies & others)
1) Family genetic counseling
A genetics professional explains the cause, how BOR runs in families, and choices for testing relatives. This helps parents plan care early, screen kidneys and hearing, and understand pregnancy risks (50% chance for each child when a parent is affected). Counseling also connects families to services like early hearing support and educational rights. Knowing the exact gene can guide testing of siblings and future babies, and may reduce anxiety by giving clear, written plans to share with schools and clinicians. NCBI+1
2) Newborn and early-life hearing screening + repeat audiology
All babies with suspected BOR should have newborn hearing screening and full audiology soon after. Subtle hearing loss can worsen; repeat testing helps update devices, therapy, and classroom supports. Early detection improves language, learning, and social skills. Tests include otoacoustic emissions, auditory brainstem testing, and behavioral tests. Following a schedule is vital because BOR hearing loss can be mixed and progressive. NCBI
3) Hearing aids and assistive listening devices
Modern digital hearing aids can boost soft sounds and improve speech understanding. BOR often causes mixed loss, so programmable options and real-ear measures help tailor sound. In school, FM/DM classroom systems and remote microphones lower background noise and improve teacher voice clarity. Regular checks adjust settings as hearing changes. These tools protect language development and reduce listening fatigue. NCBI
4) Cochlear implant evaluation (when hearing aids are not enough)
If hearing loss is severe to profound and hearing aids no longer help, a cochlear implant can bypass damaged inner-ear hair cells and directly stimulate the hearing nerve. A specialist team checks hearing, imaging, and speech needs, then supports training after surgery. Benefits include better access to speech and environmental sounds; risks include surgery risks and possible loss of remaining natural hearing in the implanted ear. U.S. Food and Drug Administration+1
5) Speech-language therapy and early language enrichment
Speech therapists teach listening skills, clear speech, vocabulary, and language rules. Parents learn strategies like face-to-face talking, reading aloud daily, and checking understanding. Therapy plans adjust if hearing changes or devices are upgraded. Consistent therapy improves school performance and social confidence in children with BOR-related hearing loss. NCBI
6) Educational accommodations (IEP/504, classroom seating, captioning)
Children with hearing loss need quiet seating, preferential placement, captioning for videos, note support, and extra time for listening tasks. Formal school plans (IEP/504) protect rights and services. Teens and adults may use real-time captioning in college or work meetings. These supports reduce learning gaps and listening fatigue. NCBI
7) ENT (ear, nose, throat) care for branchial cleft cysts and fistulas
Branchial pits, cysts, or fistulas can get infected and drain. ENT doctors monitor the skin openings, counsel about hygiene, and plan surgical removal when needed. Early assessment lowers infection risk and scarring and improves comfort and appearance. NCBI
8) Kidney surveillance and nephrology care
Kidney ultrasound, urine tests (protein, blood), and blood tests (creatinine, eGFR) check kidney health over time. Early nephrology visits set targets for blood pressure, salt intake, and kidney-safe medicines. A written “kidney action plan” helps primary doctors manage intercurrent illness and avoid dehydration. NCBI+1
9) Kidney-protective lifestyle (hydration, low-salt diet, infection prevention)
Simple steps protect kidneys: drink enough fluids, limit salt to keep blood pressure controlled, and treat urinary infections quickly. People learn “sick-day rules” to avoid dehydration and to check blood pressure at home if advised. Dietitians tailor protein, potassium, and phosphate if kidney function declines. kdigo.org
10) Regular dental and craniofacial checks
Ear and branchial anomalies may coexist with bite or jaw differences. Early dental, orthodontic, and craniofacial review improves chewing, speech clarity, and facial growth. Coordination with ENT and audiology helps time treatments around ear surgeries or device use. NCBI
11) Psychosocial support and peer groups
Hearing loss and visible neck/ear changes can affect confidence. Counseling and peer support reduce stigma, teach coping skills, and improve adherence to hearing devices and medical follow-up. Family support programs also help parents manage appointments and school meetings. rarediseases.org
12) Safe-hearing habits (noise protection)
Protecting residual hearing is key. Limit loud music, use hearing protection at concerts and with power tools, and avoid ototoxic medications unless necessary. Routine device checks and earwax care keep sound clear. NCBI
13) Home ear-health care (dry-ear precautions when advised)
After ear surgery or with ear tubes, doctors may advise keeping ears dry to lower infection risk. Families learn gentle drying, avoiding cotton swabs, and watching for discharge or pain. Prompt ENT follow-up prevents complications. NCBI
14) Vestibular rehab (if balance is affected)
Some people with BOR have balance issues due to inner-ear changes. Physical therapists teach gaze-stability and balance exercises to reduce dizziness and fall risk, and to improve confidence in daily activities. NCBI
15) Transition planning (teen to adult care)
Teens learn self-management: device care, recognizing UTI signs, blood pressure checks, refilling prescriptions, and sharing a medical summary. Smooth transfer to adult ENT, audiology, and nephrology protects long-term outcomes. NCBI
16) Pregnancy planning and counseling
Adults with BOR considering pregnancy should meet genetics and nephrology teams. Plans cover inheritance risk (50%), prenatal options, and kidney monitoring during pregnancy. Blood pressure and medications are reviewed to keep mother and baby safe. NCBI
17) Workplace accommodations
Adults may use captioning apps, amplified phones, and quiet meeting spaces. Employers can provide reasonable accommodations that keep communication safe and effective. NCBI
18) Healthy sleep and fatigue management
Hearing effort can be tiring. Good sleep routines, device downtime, and breaks during long listening reduce fatigue and headaches. NCBI
19) Vaccinations and infection control
Routine vaccines and early care for ear and urinary infections lower complications that can worsen hearing or kidney health. Care teams tailor advice for each person’s history. kdigo.org
20) Community resources and tele-audiology
Families can access state early-hearing programs, deaf/hard-of-hearing supports, and tele-audiology follow-ups. Remote checks help fine-tune devices and improve adherence when travel is hard. NCBI
Drug treatments
Note: There is no single drug that cures BOR. Medicines below are standard, FDA-labeled treatments for common complications of BOR, such as urinary tract infection (UTI), high blood pressure with kidney disease, anemia of chronic kidney disease (CKD), mineral-bone disorder in CKD, ear infections, and edema. Doses are typical adult starts; clinicians individualize by age, kidney function, and indication.
1) Enalapril (ACE inhibitor)
Class: ACE inhibitor. Typical dose/time: 5–20 mg once or twice daily; start lower in CKD, titrate. Purpose: Lowers blood pressure and reduces protein in urine to protect kidneys. Mechanism: After conversion to enalaprilat, blocks ACE, lowering angiotensin II and aldosterone, which relaxes vessels and reduces glomerular pressure. Side effects: Cough, high potassium, kidney function changes, low blood pressure; avoid in pregnancy. In proteinuric CKD, ACE inhibitors are cornerstone therapy to slow decline. FDA Access Data
2) Losartan (ARB)
Class: Angiotensin receptor blocker. Dose/time: 50–100 mg once daily; adjust in CKD per clinician. Purpose: Alternative to ACE inhibitors to reduce proteinuria and control BP. Mechanism: Blocks angiotensin II type-1 receptor, lowering vasoconstriction and aldosterone effects. Side effects: Dizziness, high potassium, kidney function changes; boxed warning for fetal toxicity (avoid in pregnancy). Not combined with aliskiren in diabetics. FDA Access Data+1
3) Furosemide (loop diuretic)
Class: Loop diuretic. Dose/time: 20–80 mg once or twice daily; titrate to edema and kidney function. Purpose: Treats fluid overload and edema in CKD or nephrotic states. Mechanism: Blocks Na-K-2Cl transporter in the loop of Henle, increasing urine output and reducing swelling and blood pressure. Side effects: Low potassium, dehydration, dizziness; high doses risk hearing issues and electrolyte losses; careful monitoring required. FDA Access Data+1
4) Sevelamer (phosphate binder)
Class: Non-absorbed anion-exchange resin. Dose/time: Usually 800–1600 mg three times daily with meals; individualized by serum phosphorus. Purpose: Treats high phosphate in CKD to protect bones and blood vessels. Mechanism: Binds dietary phosphate in the gut, lowering absorption. Side effects: Nausea, vomiting, diarrhea, abdominal pain; must separate from some drugs. FDA Access Data+1
5) Calcitriol (active vitamin D)
Class: Vitamin D analog. Dose/time: Oral 0.25–0.5 mcg daily or several times weekly; injection options exist for dialysis. Purpose: Manages CKD mineral-bone disorder by lowering PTH and improving calcium/phosphate balance. Mechanism: Active vitamin D increases intestinal calcium/phosphate absorption and modulates PTH secretion. Side effects: Hypercalcemia, hyperphosphatemia, risk of soft-tissue calcification if overdosed. FDA Access Data+1
6) Epoetin alfa / biosimilar (RETACRIT)
Class: Erythropoiesis-stimulating agent (ESA). Dose/time: Dosing varies by dialysis status; e.g., CKD not on dialysis often weekly or every 2 weeks, titrated by hemoglobin; dialysis patients often three times weekly. Purpose: Treats anemia of CKD to cut transfusions and improve energy. Mechanism: Stimulates red blood cell production in bone marrow. Side effects: Hypertension, thrombosis risk; use the lowest dose to avoid transfusions. FDA Access Data+1
7) Methoxy-PEG-epoetin beta (Mircera)
Class: Long-acting ESA. Dose/time: Dosing schedules every 2–4 weeks depending on prior ESA use and hemoglobin response. Purpose: Alternative ESA for CKD-related anemia with less frequent injections. Mechanism: Stimulates erythropoiesis via EPO receptor activation. Side effects: Hypertension, thromboembolic risk; monitor hemoglobin. FDA Access Data
8) Amoxicillin
Class: Aminopenicillin antibiotic. Dose/time: Common adult UTI regimens vary; always adjust to culture, local resistance, and kidney function. Purpose: Treats susceptible UTIs or ENT infections in BOR when bacteria are sensitive. Mechanism: Inhibits bacterial cell wall synthesis. Side effects: Rash, diarrhea; allergic reactions possible. Use only when bacterial infection is likely; stewardship matters. FDA Access Data
9) Trimethoprim–sulfamethoxazole (TMP-SMX; Bactrim)
Class: Antifolate antibiotic combination. Dose/time: Typical adult DS tablet (160/800 mg) every 12 h for many UTIs; adjust for kidney function. Purpose: Treats susceptible UTIs and some ear infections per culture. Mechanism: Sequential blockade of folate pathway, inhibiting bacterial DNA synthesis. Side effects: Rash, hyperkalemia, renal dosing needs; interact with other drugs. Use cautiously in CKD. FDA Access Data+1
10) Ofloxacin otic (Floxin Otic)
Class: Fluoroquinolone ear-drop antibiotic. Dose/time: Label-guided drops for otitis externa or chronic suppurative otitis media with tympanostomy tubes. Purpose: Local treatment of ear canal or middle ear infection without systemic exposure. Mechanism: Inhibits bacterial DNA gyrase/topoisomerase IV. Side effects: Ear discomfort or pruritus; follow positioning instructions to improve penetration. FDA Access Data+1
11) Ciprofloxacin + dexamethasone otic (Ciprodex)
Class: Fluoroquinolone + corticosteroid ear-drop. Dose/time: Label-guided drops for acute otitis externa or otorrhea with tubes. Purpose: Combines antibacterial action with anti-inflammatory effect for pain and swelling. Mechanism: Ciprofloxacin inhibits bacterial enzymes; dexamethasone reduces inflammation. Side effects: Ear pain or itching; follow drop technique and discard remainder. FDA Access Data+1
12) Gentamicin (note on ototoxicity risk)
Class: Aminoglycoside antibiotic (systemic; some topical oto-use off-label). Purpose/Mechanism: Bactericidal action by inhibiting 30S ribosomal function. Caution: Aminoglycosides can damage hearing and kidneys; systemic or otic exposure requires careful selection and monitoring—especially in people with pre-existing ear or kidney issues like BOR. Side effects: Ototoxicity, nephrotoxicity; drug-level monitoring recommended. FDA Access Data+1
13) Dialysis medicines bundle during kidney failure
Class: Supportive meds (phosphate binders, vitamin D analogs, ESAs) used per CKD guidelines. Purpose/Mechanism: Control phosphorus, PTH, anemia, and volume while on dialysis. Side effects: Depend on agent; close monitoring required. KDIGO guidance frames targets and sequencing. kdigo.org
14) Blood-pressure toolkit (thiazides, calcium-channel blockers, beta-blockers as needed)
Class: Antihypertensives chosen when ACEi/ARB alone is not enough. Purpose: Maintain guideline BP targets to protect kidneys and hearing microcirculation. Mechanism/Side effects: Vary by class; clinicians choose based on age, comorbidities, and CKD stage. kdigo.org
15) Analgesics with kidney-safe strategy
Class: Acetaminophen preferred first-line for pain/fever; NSAIDs used cautiously or avoided in CKD. Purpose: Treat pain without harming kidneys or inner ear. Mechanism/Side effects: Acetaminophen acts centrally; NSAIDs can reduce renal blood flow—use only with nephrology advice if CKD. kdigo.org
16) Vaccination adjuncts (per standard schedules)
Class: Not drugs for BOR itself but key to reducing infection burden that can harm kidneys or ears. Purpose/Mechanism: Prevent infections (e.g., influenza) that may trigger decompensation. Side effects: Usual vaccine reactions. kdigo.org
17) Topical otic steroid courses (with antibiotics) for inflamed ear canals
Short, label-directed courses help pain and swelling in otitis externa. Combination otic products like ciprofloxacin/dexamethasone are preferred when bacteria and inflammation coexist. FDA Access Data
18) UTI stewardship (culture-guided therapy)
Selecting narrow-spectrum antibiotics based on urine culture protects kidneys and reduces resistance. Always adjust dose for eGFR. kdigo.org
19) ESA iron coordination
When starting ESAs, clinicians check iron status and replete iron if low to improve response and limit ESA dose. This is standard CKD anemia care. kdigo.org
20) Individualized peri-operative meds for ENT/kidney procedures
Before cochlear implant or branchial cyst surgery, teams optimize blood pressure, anemia, and infection risk; after surgery, pain and antibiotic plans minimize kidney and ear risk. U.S. Food and Drug Administration
Dietary molecular supplements
1) Omega-3 fatty acids (fish oil, EPA/DHA)
May modestly lower triglycerides and help vascular health in CKD. Use purified products and monitor bleeding risk when on anticoagulants. Benefit is supportive, not disease-specific. Coordinate with nephrology and dietitian. kdigo.org
2) Vitamin D (cholecalciferol) when deficient
If blood tests show low 25-OH vitamin D, repletion supports bone and immune health; active vitamin D (calcitriol) is a prescription drug covered above for CKD-MBD. Avoid self-dosing in CKD; monitor calcium and phosphate. FDA Access Data
3) Probiotics (UTI-prevention adjunct in selected cases)
Certain lactobacilli may help reduce recurrent UTIs in some people, but evidence is mixed; they do not replace antibiotics when infection is present. Discuss with a clinician if UTIs recur. kdigo.org
4) Cranberry products (UTI-prevention adjunct)
Cranberry may reduce bacterial adherence in recurrent UTI for some, but results vary. Use standardized products; avoid excess sugar; confirm safety in CKD diet plans. kdigo.org
5) Coenzyme Q10 (general fatigue support)
Some patients report improved energy; evidence is limited in CKD. Check for drug interactions (e.g., with anticoagulants). Use as a monitored trial only. kdigo.org
6) Oral iron (only if deficient and advised)
For CKD anemia with iron deficiency, clinicians may begin oral iron or use IV iron. Do not self-start; overuse can harm. Coordinate with ESA therapy. kdigo.org
7) Magnesium (dietary adjustment only)
CKD alters magnesium handling; supplementation should be clinician-guided to avoid high levels. Food-first approach is safer. kdigo.org
8) Potassium management
Some with CKD must limit potassium; others may need more careful balance. Never supplement potassium without nephrology input. Food choices should follow labs. kdigo.org
9) Phosphate awareness
Lowering processed foods and colas reduces phosphate load, helping CKD mineral-bone control alongside binders like sevelamer when prescribed. Dietitian guidance is key. kdigo.org
10) Protein moderation (stage-based)
In early CKD, moderate protein may slow decline; in advanced CKD or dialysis, needs change. Get a personalized plan to protect nutrition and kidneys. kdigo.org
Drugs for immunity boost, regenerative or stem-cell related
There is no FDA-approved regenerative or stem-cell drug to reverse BOR gene defects. The safest, evidence-based approach is to control complications. Below are therapies sometimes called “regenerative/hematinic,” but they do not correct BOR itself.
1) Epoetin alfa / biosimilars (hematinic)
Stimulates red-blood-cell production to treat CKD anemia; improves exercise tolerance and quality of life but requires careful dosing to avoid high hemoglobin and clots. Not an immune booster. FDA Access Data
2) Methoxy-PEG-epoetin beta (Mircera)
Long-acting ESA for CKD anemia; fewer injections. Monitor blood pressure and hemoglobin closely. Not disease-modifying for BOR. FDA Access Data
3) Calcitriol (active vitamin D)
Supports bone-mineral balance and lowers PTH in CKD; not an immune booster and must be monitored to prevent high calcium/phosphate. FDA Access Data
4) Vaccinations (immune support by prevention)
Standard vaccines reduce infection burden that can worsen kidney or ear health; this is preventive immune support, not a drug that “boosts” immunity. kdigo.org
5) Nutritional vitamin D (cholecalciferol) when deficient
Correcting deficiency supports normal immune function and bone health; dosing must be individualized in CKD. FDA Access Data
6) Evidence-based avoidance of ototoxic agents
Avoiding or minimizing aminoglycosides and other ototoxins protects remaining cochlear cells; this “protects” function rather than regenerates it. FDA Access Data
Surgeries (procedure & why it’s done)
1) Excision of branchial cleft cysts/fistulas
ENT surgeons remove the cyst or fistula tract to stop recurrent infection, drainage, and swelling and to improve comfort and cosmesis. Early, complete removal lowers recurrence. NCBI
2) Tympanostomy tubes (ear tubes)
When middle-ear fluid or infections recur and worsen hearing, small tubes ventilate the ear and reduce infections, supporting speech and learning. NCBI
3) Ossicular chain reconstruction (selected cases)
In some conductive losses due to ossicle problems, surgery can rebuild the tiny bones to improve sound conduction. Decision depends on anatomy and risks. NCBI
4) Cochlear implantation
For severe-to-profound sensorineural loss with limited aid benefit, implantation can improve access to sound and speech with rehab. Risks and MRI safety are reviewed. U.S. Food and Drug Administration+1
5) Kidney transplantation (advanced renal failure)
When kidneys fail, transplant can restore kidney function and quality of life better than long-term dialysis for many patients, with lifelong anti-rejection meds. Timing depends on progression and evaluation. kdigo.org
Preventions
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Early hearing tests and follow-up to catch changes quickly. NCBI
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Protect ears from loud noise and avoid cotton swabs. NCBI
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Prompt care for ear discharge or pain to prevent damage. FDA Access Data
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Treat UTIs promptly and follow culture results. kdigo.org
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Control blood pressure with lifestyle and medicines. kdigo.org
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Kidney-friendly diet (salt control, phosphorus awareness) with a dietitian. kdigo.org
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Avoid ototoxic drugs when possible; monitor if required. FDA Access Data
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Stay hydrated unless your doctor advises limits. kdigo.org
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Vaccinations up to date to reduce infections. kdigo.org
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Share a medical summary with schools and new clinicians. NCBI
When to see doctors
See your pediatrician/primary doctor and ENT/audiology urgently for new ear pain, discharge, sudden hearing change, dizziness, or fever. See nephrology quickly for burning with urination, back pain, blood in urine, swelling of legs or face, rising blood pressure, or falling urine output. Schedule routine follow-ups even if you feel well, because BOR changes can be silent. Families should meet genetics to plan screening for relatives and for future pregnancies. If your doctor prescribes an aminoglycoside or other ototoxic drug, ask if safer options exist and how monitoring will be done. NCBI+1
What to eat and what to avoid
Eat:
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Fresh fruits/vegetables in portions suited to your labs (dietitian-guided potassium).
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Whole grains and high-fiber foods for heart health.
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Lean proteins in amounts set by CKD stage.
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Healthy fats (olive oil, nuts) for vascular health.
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Water for good hydration unless your clinician sets a limit. kdigo.org
Avoid/Limit:
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Excess salt (packaged snacks, fast food) to control blood pressure.
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Colas/processed foods high in phosphorus additives.
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Very high protein without guidance in early CKD.
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NSAIDs without medical advice.
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Unregulated supplements high in potassium, magnesium, or heavy metals. kdigo.org
Frequently asked questions
1) What causes BOR?
Pathogenic variants in EYA1, SIX1, or SIX5 disrupt ear, neck, and kidney development. It is usually autosomal dominant. NCBI+1
2) Can BOR be mild?
Yes. Features vary widely—even in the same family. Some have only ear pits and mild hearing loss; others have kidney disease. NCBI
3) How is BOR diagnosed?
By clinical features (ear/branchial/kidney findings), audiology and kidney imaging, plus gene testing when available. NCBI
4) Is there a cure?
No cure yet. Treatment protects hearing and kidneys and manages infections and blood pressure. NCBI
5) What is the inheritance risk?
If a parent has BOR, each child has a 50% chance to inherit it. NCBI
6) Will hearing get worse?
Hearing loss can be stable or progressive. Regular tests guide hearing aids or implants. NCBI
7) Are cochlear implants an option?
Yes, for severe-to-profound loss with poor benefit from hearing aids, after full candidacy evaluation. U.S. Food and Drug Administration
8) How do doctors protect kidneys?
Control blood pressure, treat UTIs quickly, adjust diet, and use CKD medicines like ACEi/ARB, phosphate binders, vitamin D analogs, and ESAs when indicated. kdigo.org+2FDA Access Data+2
9) What ear drops are safest?
Fluoroquinolone drops (ofloxacin; ciprofloxacin/dexamethasone) are commonly used for otitis externa/otorrhea; aminoglycosides may harm hearing and are used cautiously. FDA Access Data+2FDA Access Data+2
10) Can pregnancy planning help?
Yes. Genetics explains risks and options; nephrology reviews meds and blood pressure before and during pregnancy. NCBI
11) Should relatives be tested?
Families often screen hearing and kidneys for early care, and consider gene testing when a pathogenic variant is known. NCBI
12) Which pain reliever is safer in CKD?
Acetaminophen is usually preferred. Avoid or limit NSAIDs unless your clinician approves. kdigo.org
13) Are “immune boosters” helpful?
No supplement cures BOR. Vaccines and healthy lifestyle lower infection burden; disease-specific care protects organs. kdigo.org
14) What is the long-term outlook?
With early hearing support and kidney care, many people study, work, and live well. Outlook depends on kidney involvement and timely interventions. NCBI
15) Where can I learn more?
GeneReviews (clinician-focused), MedlinePlus Genetics (patient-friendly), and NORD (patient advocacy) offer reliable information. NCBI+2MedlinePlus+2
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: November 02, 2025.
