Infantile Bartter syndrome with sensorineural deafness is a rare, inherited kidney salt-wasting disorder that starts before birth. Babies lose too much salt and water through the kidneys, which causes dehydration, lots of urine, poor weight gain, and chemical imbalances such as low blood potassium and metabolic alkalosis. At the same time, the inner ear does not work normally, so the child has permanent (usually bilateral) sensorineural hearing loss. The most common genetic cause is a fault in the BSND gene (it makes a helper protein called barttin for kidney and inner-ear chloride channels). A similar, less common cause is having disease-causing variants in both chloride channel genes CLCNKA and CLCNKB together. Medscape+3PubMed+3New England Journal of Medicine+3
Infantile Bartter syndrome with sensorineural deafness is a rare, inherited kidney salt-wasting disease. The kidneys cannot take back enough salt in a part of the kidney called the thick ascending limb of Henle’s loop. Because of this, babies lose too much salt and water in urine, leading to dehydration, very frequent urination, poor weight gain, and low blood potassium. In type IV, children are also born with permanent inner-ear (sensorineural) hearing loss. Most cases are caused by changes in the BSND gene, which makes barttin, a helper protein for kidney and inner-ear chloride channels (CLC-KA and CLC-KB). The same defect that lowers salt re-absorption in the kidney also harms hearing cells in the inner ear. There is no single cure, but careful fluid and electrolyte replacement, potassium-sparing medicines, and sometimes NSAIDs can improve growth and symptoms; cochlear implants can help with hearing. Orpha+3PMC+3NCBI+3
Before birth, mothers often have polyhydramnios (too much amniotic fluid) and babies may be born early. After birth, typical findings include high urine output, low or normal blood pressure, high renin and aldosterone, and sometimes high urinary calcium or nephrocalcinosis on ultrasound. The hearing loss is present from birth and is not due to ear infections or wax; it is because chloride transport in the inner ear is abnormal. Orpha+1
Other names
Antenatal Bartter syndrome with sensorineural deafness
Bartter syndrome type IV (also “type 4”)
Type 4a (BSND-related) and Type 4b (digenic CLCNKA + CLCNKB)
“BSND variant” (older literature)
These labels all point to the same clinical picture: infant-onset salt wasting plus congenital sensorineural hearing loss. Medscape+1
Types
Type 4a (BSND-related) – mutations in BSND; classic combination of antenatal salt wasting and congenital sensorineural deafness. PubMed
Type 4b (digenic) – pathogenic variants in both CLCNKA and CLCNKB leading to the same kidney and hearing features. New England Journal of Medicine
Causes
All “causes” are genetic or molecular mechanisms that disrupt chloride movement in the kidney’s thick ascending limb and in the inner ear. Each item below is a simple way clinicians describe what can go wrong:
Loss-of-function mutations in BSND (barttin) that block ClC-Ka/ClC-Kb channels from working. PubMed+1
Missense BSND variants that produce a misfolded or weak barttin protein. ScienceDirect
Nonsense/frameshift BSND variants causing truncated, nonfunctional protein. PubMed
Splice-site BSND variants that alter RNA processing and reduce normal protein. PubMed
Large BSND deletions/duplications (copy-number changes) removing critical exons. MedlinePlus
Digenic loss of CLCNKA + CLCNKB (type 4b) that mimics BSND disease. New England Journal of Medicine
Compound heterozygosity (two different BSND variants, one on each allele). PubMed
Homozygous BSND variant in children of carrier parents (autosomal recessive). PubMed
De novo BSND variant arising in the child (less common). PMC
Variants that prevent barttin from anchoring ClC-K channels to the membrane. MedlinePlus
Variants that reduce chloride conductance through ClC-K channels in kidney. New England Journal of Medicine
Variants that disable inner-ear ClC-K channel function, producing deafness. MedlinePlus
Promoter/regulatory BSND changes that lower gene expression. PMC
BSND variants with tissue-specific impact (kidney + inner ear). PMC
Digenic CLCNKA/CLCNKB missense variants that together cross the disease threshold. New England Journal of Medicine
Founder variants in certain populations due to shared ancestry. PMC
Consanguinity-related homozygosity increasing recessive risk. OUP Academic
Pathogenic variants that increase prostaglandin E2 signaling secondarily (a known biochemical feature of antenatal Bartter). DynaMed
Variants predisposing to nephrocalcinosis via altered tubular calcium handling. MedlinePlus
Very rare BSND variants causing primarily deafness with renal features on a spectrum (nonsyndromic vs syndromic continuum). PMC+1
Common symptoms and signs
Before birth: polyhydramnios (too much amniotic fluid), leading to early delivery. Orpha+1
Prematurity and low birth weight. Orpha
Very high urine output (polyuria) and frequent wet diapers. National Organization for Rare Disorders
Excessive thirst (polydipsia) or strong desire to feed to replace lost fluid. Genetic Rare Disease Center
Dehydration with dry mouth, sunken fontanelle, and poor skin turgor. National Organization for Rare Disorders
Failure to thrive or poor weight gain despite good appetite. MedlinePlus
Low or normal blood pressure despite salt loss. Genetic Rare Disease Center
Muscle weakness or cramps due to low potassium. MedlinePlus
Constipation or lethargy related to electrolyte imbalance. MedlinePlus
Metabolic alkalosis (not a feeling, but explains vomiting/irritability). Genetic Rare Disease Center
Hearing loss present from birth (bilateral sensorineural). Orpha
Possible nephrocalcinosis (kidney calcium deposits) in some infants. MedlinePlus
High renin/aldosterone state causing salt craving and ongoing losses. Genetic Rare Disease Center
Vomiting and irritability in dehydration episodes. Genetic Rare Disease Center
Normal external ear exam (hearing loss is inner-ear, not middle-ear). MedlinePlus
Diagnostic tests
A) Physical examination
Hydration status check – dry mucosa, sunken fontanelle, delayed capillary refill; these signs point to salt and water loss. National Organization for Rare Disorders
Growth assessment – weight, length, head circumference plotted over time to spot failure to thrive. MedlinePlus
Blood pressure – typically low/normal despite high renin/aldosterone; helps distinguish from other causes of alkalosis. Genetic Rare Disease Center
Ear and neurologic screen – normal ear exam with reduced responses to sound suggests inner-ear cause of hearing loss. Orpha
B) “Manual” bedside assessments
Intake–output charting – careful daily recording of fluids in and urine out to document polyuria and guide replacement. Genetic Rare Disease Center
Daily weight monitoring – rapid weight loss indicates dehydration and ongoing renal salt loss. MedlinePlus
Bedside hearing checks – simple response-to-sound observations in the nursery as a first clue before formal testing. Orpha
C) Laboratory and pathological tests
Serum electrolytes and blood gas – low potassium, low chloride, metabolic alkalosis; core laboratory hallmark. Genetic Rare Disease Center
Plasma renin and aldosterone – both elevated due to volume depletion; confirms secondary hyperaldosteronism. Genetic Rare Disease Center
Urine electrolytes (chloride, sodium, potassium) – high urinary chloride and potassium despite dehydration confirms renal wasting. DynaMed
Urinary calcium (Ca/Cr ratio or 24-h Ca) – may be high; helps assess risk of nephrocalcinosis. MedlinePlus
Urinary prostaglandin E2 – often elevated in antenatal Bartter; supports diagnosis and treatment decisions (e.g., indomethacin in some settings). DynaMed
Kidney function tests (creatinine, BUN) – to monitor dehydration effects and long-term kidney status. National Organization for Rare Disorders
Genetic testing panel – analyzes BSND, CLCNKA, CLCNKB (and other tubulopathy genes) to confirm type 4a or 4b. Orpha
Differential labs – tests to rule out other tubulopathies (e.g., magnesium for Gitelman-like pictures) when needed. DynaMed
D) Electrodiagnostic / physiologic tests
Auditory Brainstem Response (ABR) – objective newborn test showing reduced/absent neural responses; confirms sensorineural loss. PMC
Otoacoustic Emissions (OAE) – absent OAEs suggest cochlear hair-cell dysfunction typical of congenital SNHL. PMC
Electrocardiogram (ECG) – looks for hypokalemia effects (e.g., U waves); guides safe correction of electrolytes. MedlinePlus
E) Imaging tests
Renal ultrasound – checks for nephrocalcinosis and kidney size/echogenicity; common monitor in salt-wasting tubulopathies. MedlinePlus
Inner-ear/temporal-bone MRI (selected cases) – mainly to exclude structural ear problems; hearing loss here is usually from channel dysfunction, not anatomy. MedlinePlus
Non-pharmacological treatments (therapies & others)
Structured oral salt (sodium chloride) replacement
Description: Babies and children with this condition chronically lose sodium in urine. A pediatric kidney specialist often prescribes measured oral sodium chloride (NaCl) solution or granules spread through the day, adjusted to age, weight, and lab values. Caregivers learn mixing, dosing, and signs of too little or too much salt (lethargy vs. swelling). Fluids are paired with salt to prevent dehydration. Purpose: Replace ongoing sodium losses to support blood volume, growth, and normal development. Mechanism: Restores extracellular sodium and helps the kidneys better hold onto water, reducing polyuria and dehydration symptoms that occur from salt-wasting in the thick ascending limb. NCBIOral potassium chloride supplementation
Description: Hypokalemia (low potassium) is common in Bartter. Clinicians use liquid or compounded potassium chloride (KCl) in divided doses, titrated by regular blood tests and ECG when needed. Parents are taught careful measurement and to give doses with food to lower stomach upset. Purpose: Maintain safe potassium levels to prevent muscle weakness, cramps, and heart rhythm problems; support growth. Mechanism: Directly replaces potassium lost through the kidneys due to high aldosterone and impaired sodium reabsorption; chloride also helps correct metabolic alkalosis. NCBI+2FDA Access Data+2Optimized fluid intake plan
Description: Because of high urine output, babies need planned fluids (breast milk or formula, later water) to match losses. In illness or heat, caregivers increase fluids per clinician guidance. Purpose: Prevent dehydration, rapid weight drops, and hospital visits. Mechanism: Offsets renal water loss secondary to salt wasting, stabilizing circulation and kidney function. NCBIEarly cochlear implant evaluation
Description: Children with type IV typically have severe, bilateral sensorineural deafness. Referral to pediatric otology and audiology should occur early. Cochlear implants may be recommended in the first year(s) of life to give access to sound for listening and spoken language. Purpose: Improve hearing access, communication, and learning outcomes. Mechanism: Bypasses damaged hair cells by directly stimulating the auditory nerve, allowing the brain to perceive sound. OrphaBilingual language plan (spoken language + sign language)
Description: Even with implants, experts recommend rich language exposure—including sign language—to prevent language deprivation. Families are coached in sign from infancy and use visual language alongside spoken therapy. Purpose: Ensure full language development, cognition, and social connection. Mechanism: Provides accessible language input regardless of device performance; supports brain language networks during critical periods. The GuardianDietary counseling focused on potassium-rich foods
Description: A pediatric dietitian helps incorporate naturally potassium-rich foods (as age-appropriate purées/solids) such as banana, avocado, lentils, yogurt, and leafy greens, alongside prescribed supplements. Purpose: Support potassium levels and growth with whole-food sources. Mechanism: Adds dietary potassium to compensate for renal losses; food-based intake can smooth levels between medication doses. NCBIGrowth and nutrition monitoring
Description: Regular weight, length/height, and head-circumference checks; calorie optimization; addressing feeding fatigue. If oral intake lags, temporary nasogastric or gastrostomy feeding may be considered. Purpose: Prevent failure to thrive and support normal development. Mechanism: Adequate calories and electrolytes counter high metabolic needs and renal losses. OrphaFever/illness action plan
Description: Intercurrent illnesses raise fluid and electrolyte needs. Families keep an action plan (extra oral rehydration, when to seek IV fluids). Purpose: Reduce ER visits and complications from acute dehydration. Mechanism: Rapid replacement prevents volume depletion from compounding chronic salt-wasting. NCBIRegular lab surveillance and ECG when indicated
Description: Scheduled blood tests (Na, K, Cl, bicarbonate, Mg) and kidney ultrasound for nephrocalcinosis; ECGs if potassium is low or medicines change. Purpose: Find and fix electrolyte shifts early; watch for kidney complications. Mechanism: Objective data guides dose titration (salt, potassium, meds). NCBIDevelopmental therapies (speech, auditory-verbal, occupational, physical)
Description: Early intervention supports feeding, motor skills, and communication, especially in children with fatigue from polyuria and hearing loss. Purpose: Optimize developmental milestones. Mechanism: Therapy harnesses neuroplasticity while medical care stabilizes electrolytes and hearing. National Organization for Rare DisordersHeat-safety and hydration education
Description: Families learn to avoid overheating, schedule rest, and carry electrolyte solutions during hot weather or exercise. Purpose: Prevent dehydration spikes. Mechanism: Minimizes sweat-related salt/water loss added to renal losses. NCBIKidney stone/nephrocalcinosis watch and prevention
Description: Ultrasounds monitor calcium deposition; caregivers ensure good hydration and follow diet advice as guided. Purpose: Reduce risk of stones and kidney damage over time. Mechanism: Dilute urine and correct electrolytes to lower calcium precipitation risk. OrphaMedication safety counseling (NSAIDs and others)
Description: Families learn benefits and risks of NSAIDs (like indomethacin) and the importance of dosing exactly as prescribed and attending labs. Purpose: Improve safety and adherence. Mechanism: Informed use lowers risk of GI, renal, and electrolyte adverse events. FDA Access DataCare coordination with a pediatric nephrology center
Description: Multidisciplinary clinics align nephrology, audiology, nutrition, and therapy services; provide after-hours plans. Purpose: Streamline complex care. Mechanism: Frequent review of labs, growth, and hearing outcomes to adjust treatment. NCBIGenetic counseling for family planning
Description: Counselors explain autosomal recessive inheritance, carrier testing for parents/siblings, and prenatal options. Purpose: Informed future pregnancies. Mechanism: Risk calculation based on BSND variants guides decisions. PMCSchool and caregiver education plans
Description: Written plans for teachers and caregivers cover hydration breaks, bathroom access, hearing supports, and emergency steps. Purpose: Safer daily life and learning. Mechanism: Prevents missed fluids/meds and supports communication in class. National Organization for Rare DisordersIllness-time oral rehydration solutions (ORS)
Description: WHO-style ORS (modified for sodium goals under medical guidance) is kept at home. Purpose: Rapid response to vomiting/diarrhea. Mechanism: Balanced sodium-glucose transport improves water uptake in the gut. NCBIRoutine vaccinations and infection prevention
Description: Standard immunizations and hand-hygiene lower infection-related fluid losses. Purpose: Reduce hospitalizations and electrolyte swings. Mechanism: Prevents dehydration triggers from febrile illnesses. NCBIFamily support and mental health resources
Description: Chronic care is stressful; social work and counseling help families cope and connect with rare-disease communities. Purpose: Sustain adherence and quality of life. Mechanism: Emotional support improves daily disease management. National Organization for Rare DisordersRegular hearing technology follow-up
Description: After cochlear implantation, mapping, device checks, and therapy continue long-term. Purpose: Maintain best hearing outcomes. Mechanism: Adjusts device settings to child’s growth and neural responses. Orpha
Drug treatments
Indomethacin (INDOCIN) – NSAID
Description : Indomethacin is often used in Bartter syndrome to lower the body’s excess prostaglandin production, which contributes to kidney salt-wasting and high renin/aldosterone activity. In some pediatric series, indomethacin improved weight gain, reduced urine output, and raised potassium levels when combined with electrolytes. It requires careful monitoring for GI irritation, renal effects, and rare electrolyte shifts (including potential hyperkalemia when combined with high-dose KCl). Class: Non-steroidal anti-inflammatory drug (COX inhibitor). Dosage/Time: FDA labeling gives dosing frameworks by indication; pediatric Bartter dosing is off-label and individualized—specialist supervision is essential. Oral suspension concentrations and general adult dosing ranges are described in the label; therapy is typically divided doses each day. Purpose/Mechanism: COX inhibition reduces prostaglandin E2, decreasing renal salt wasting and renin-aldosterone drive. Side effects: GI upset/bleeding risk, renal function changes, fluid retention, electrolyte changes. PubMed+4FDA Access Data+4FDA Access Data+4Spironolactone (CAROSPIR oral suspension; ALDACTONE) – Mineralocorticoid receptor antagonist
Description: Spironolactone counters aldosterone’s effects, helping the kidneys retain potassium. In salt-wasting states, it may reduce potassium loss when combined with salt and KCl supplements. Pediatric formulations (oral suspension) can aid precise dosing. Class: Potassium-sparing diuretic (aldosterone antagonist). Dosage/Time: FDA labeling provides dosing by indication in older patients; pediatric dosing for Bartter is off-label and individualized. Purpose/Mechanism: Blocks aldosterone receptors in distal nephron → less potassium secretion. Side effects: Hyperkalemia (especially with KCl), GI upset, endocrine effects (breast tenderness), blood pressure changes; requires lab monitoring. FDA Access Data+1Amiloride (MIDAMOR) – Epithelial sodium channel (ENaC) blocker
Description: Amiloride spares potassium by blocking ENaC in the distal nephron. In Bartter, it is used to help reduce potassium loss, sometimes instead of or with spironolactone, depending on blood pressure and lab goals. Class: Potassium-sparing diuretic. Dosage/Time: See FDA Midamor labeling for tablet strengths and adult dosing frameworks; pediatric use is off-label and specialist-directed. Purpose/Mechanism: Decreases sodium reuptake in collecting duct, lowering potassium secretion. Side effects: Hyperkalemia risk (especially with KCl), GI upset; monitor electrolytes and renal function. FDA Access Data+1Potassium chloride oral solution
Description: Core therapy to maintain target serum potassium; liquid strengths (e.g., 10% and 20%) help titration in infants/children. Class: Electrolyte replacement. Dosage/Time: FDA labeling lists solution strengths and handling; dosing is individualized to labs and ECG. Purpose/Mechanism: Replaces ongoing renal potassium loss; chloride helps correct metabolic alkalosis. Side effects: GI irritation, hyperkalemia if overdosed or with interacting drugs; needs careful monitoring. FDA Access Data+1Sodium chloride (oral packets/solutions)
Description: Pharmacologic-grade sodium chloride products provide precise sodium replacement. Class: Electrolyte replacement. Dosage/Time: Prescribed by weight and labs; divided during the day. Purpose/Mechanism: Restores extracellular volume and supports renal perfusion; mitigates secondary hormone activation. Side effects: GI upset, rare edema; monitoring for balance. NCBIIbuprofen – NSAID alternative
Description: When indomethacin is not tolerated, some clinicians consider ibuprofen to lower prostaglandin activity; choice depends on age, risks, and provider preference. Class: NSAID. Dosage/Time: Per FDA labeling by age/weight for approved indications; Bartter use is off-label and specialist-guided. Purpose/Mechanism: COX inhibition reduces renal prostaglandin-mediated salt-wasting drive. Side effects: GI irritation, renal effects, bleeding risk. NCBIACE inhibitors (e.g., enalapril) – selected cases
Description: In some Bartter patients with high renin-angiotensin activity, ACE inhibitors have been reported to help potassium levels and proteinuria; pediatric use is highly individualized and requires expert supervision due to risks (especially in neonates). Class: Renin-angiotensin system blocker. Dosage/Time: Per FDA labeling for approved indications; Bartter use is off-label. Purpose/Mechanism: Lowers angiotensin II/aldosterone signaling, potentially reducing potassium wasting. Side effects: Hypotension, renal function changes, hyperkalemia; close monitoring required. NCBIARBs (e.g., losartan) – selected cases
Description: Similar rationale to ACE inhibitors; sometimes considered when ACE inhibitors are not suitable. Strict pediatric nephrology oversight is necessary. Class: Angiotensin receptor blocker. Dosage/Time: Per FDA labeling for approved indications; off-label in Bartter. Purpose/Mechanism: Blocks AT1 receptor, moderating aldosterone drive. Side effects: Hypotension, renal effects, hyperkalemia. NCBIMagnesium supplementation (if low)
Description: Magnesium may be low in some patients; replacing magnesium can improve cramps and stabilize potassium levels. Class: Electrolyte supplement. Dosage/Time: Formulation and dose individualized to labs and GI tolerance. Purpose/Mechanism: Magnesium supports potassium retention and neuromuscular stability. Side effects: Diarrhea with high doses; monitoring advised. NCBIProton-pump inhibitor or H2 blocker (gastro-protection when NSAIDs are used)
Description: To lower GI bleeding/ulcer risk from chronic NSAIDs, clinicians sometimes add gastric protection, balancing benefits and risks. Class: Acid suppression. Dosage/Time: Per FDA labeling for age/indication; off-label strategy in this context. Purpose/Mechanism: Reduces gastric acid, lowering ulcer risk from NSAIDs. Side effects: Variable; monitor as clinically indicated. FDA Access DataAcetaminophen (paracetamol) as antipyretic
Description: For fever and pain without extra NSAID exposure. Class: Analgesic/antipyretic. Dosage/Time: Per FDA labeling by weight/age. Purpose/Mechanism: Central COX effects reduce fever/pain; does not affect renal prostaglandins like NSAIDs. Side effects: Hepatotoxicity with overdose—strict dosing. NCBIOral rehydration solutions (medical-grade)
Description: Balanced sodium-glucose solutions during illness. Class: Oral electrolyte/fluid therapy. Dosage/Time: Per clinician’s plan during dehydration risk. Purpose/Mechanism: Enhances water absorption via sodium-glucose cotransport. Side effects: Over- or under-correction if misused. NCBILoop diuretics—generally avoided
Description: Loop diuretics worsen salt loss in Bartter and are not used as treatment; listed here to underscore avoidance unless directed for another condition. Class: Diuretic. Purpose/Mechanism: Would block NKCC2 and aggravate the phenotype. Side effects: Fluid/electrolyte loss. OrphaThiazides—generally avoided
Description: Thiazides can increase sodium and potassium loss and are not routine therapy. Class: Diuretic. Purpose/Mechanism: Distal sodium blockade may worsen hypokalemia. Side effects: Electrolyte imbalance. OrphaTopical fluoride varnish (dental) in high-risk kids
Description: Dehydration and frequent feeds may affect dental health; fluoride varnish per pediatric dental guidance can be part of supportive care. Class: Preventive dental agent. Purpose/Mechanism: Strengthens enamel; indirect benefit in chronic illness. Side effects: Minimal when applied professionally. NCBIVitamin D and calcium per routine pediatric guidance
Description: To support bone health in children with chronic illness; only if indicated by labs and diet assessment. Class: Nutrient supplementation. Purpose/Mechanism: Skeletal mineralization. Side effects: Hypercalcemia if over-supplemented—monitor. NCBIIron therapy if lab-confirmed deficiency
Description: Treats iron-deficiency anemia if present. Class: Nutritional/pharmacologic supplement. Purpose/Mechanism: Restores hemoglobin and oxygen delivery. Side effects: GI upset; dose as per pediatric standards. NCBIOndansetron for vomiting episodes (illness-related)
Description: Short-term antiemetic use can protect hydration during gastroenteritis under clinician guidance. Class: 5-HT3 antagonist. Purpose/Mechanism: Blocks serotonin receptors to reduce vomiting. Side effects: Constipation, rare QT effects—use judiciously. NCBIProphylactic acid suppression only if clinically indicated
Description: Some children on chronic NSAIDs need gastro-protection; others may not—this is individualized. Class: See #10. Purpose/Mechanism: Reduce NSAID GI risk. Side effects: As above; reassess periodically. FDA Access DataCareful drug-interaction review
Description: Review of all medicines/supplements to avoid combinations that raise hyperkalemia/renal risk (e.g., high-dose KCl + K-sparing agents + NSAIDs). Purpose/Mechanism: Prevent adverse events. Side effects: N/A—this is a safety process. PubMed
Dietary molecular supplements
Potassium chloride solution — See Drug #4. As a “dietary molecular supplement,” KCl directly replaces potassium and chloride to correct hypokalemia and alkalosis. Dosing and monitoring are essential to avoid hyperkalemia; formulations (10%/20%) allow precise pediatric titration. FDA Access Data+1
Sodium chloride granules/solution — Molecular sodium and chloride support extracellular volume and reduce renin-aldosterone drive triggered by salt loss. Titrated by labs and growth. NCBI
Magnesium salts (if low) — Magnesium oxide or citrate may be used when labs show deficiency; magnesium helps muscle function and stabilizes potassium retention. Start low, go slow to minimize diarrhea. NCBI
Oral rehydration solution (optimized sodium-glucose) — During illness, ORS uses sodium-glucose cotransport to pull water into the bloodstream, helping prevent dehydration episodes in chronic salt-wasting. NCBI
Potassium-rich food purées — Bananas, avocados, legumes, yogurt (as age-appropriate) offer bioavailable potassium to complement KCl. Dietitians integrate these foods safely with medications. NCBI
Chloride-forward diet — Emphasis on chloride-containing salts (e.g., KCl rather than citrate) helps correct metabolic alkalosis, which is typical in Bartter. NCBI
Protein-adequate calorie plan — Supports growth; malnutrition worsens outcomes in chronic renal losses. Dietitian-guided to match energy needs without excessive solute load. NCBI
Vitamin D per labs — Only if deficiency or risk is confirmed; supports bone growth in children with chronic disease. NCBI
Iron (if deficient) — Lab-guided iron supports neurodevelopment and energy; never start without testing due to overdose risk. NCBI
Zinc (if deficient) — Selected cases with poor growth/diarrhea may need zinc after testing; improves taste/appetite and mucosal repair. NCBI
Immunity booster / regenerative / stem cell” drugs—
There are no approved immune-booster, regenerative, or stem-cell drugs for Bartter syndrome type IV. Care focuses on fluids, electrolytes, potassium-sparing medicines, and hearing rehabilitation. Any such products advertised online should be viewed with skepticism. Cochlear implantation is a proven assistive technology for hearing. Experimental inner-ear gene therapies exist for some forms of hereditary deafness, but not for BSND at this time; these remain research-only and disease-specific. Always discuss trials with your care team. Orpha+1
(Because there are no approved items in this category for this disease, listing six named “drugs” would be misleading; the medically accurate guidance above reflects current evidence and patient safety.)
Surgeries
Cochlear implant surgery
Procedure: Under general anesthesia, a surgeon places an internal electrode array in the cochlea and a receiver under the skin; an external processor is used after healing. Why: Provide auditory input in congenital sensorineural deafness so the child can access sound and develop spoken language alongside sign language and therapy. OrphaGastrostomy tube placement (selected cases)
Procedure: Endoscopic or surgical placement of a feeding tube through the abdominal wall into the stomach. Why: For infants with poor weight gain and high fluid/electrolyte needs who cannot take enough by mouth, to support nutrition and medication delivery. OrphaRenal stone procedures (if stones occur)
Procedure: For symptomatic stones, options include ureteroscopy or shock-wave lithotripsy. Why: Bartter can be associated with nephrocalcinosis; rarely, stones cause obstruction/pain and need intervention. OrphaTympanostomy tubes (case-by-case)
Procedure: Small tubes placed in the eardrum to ventilate the middle ear if recurrent effusions coexist. Why: Improve hearing conditions for children with frequent middle-ear fluid; adjunct to hearing care when indicated. National Organization for Rare DisordersCentral venous access (temporary, as needed)
Procedure: Line placement for repeated IV fluids/electrolytes in severe cases or during hospitalizations. Why: Secure access during acute care; removed when stable. NCBI
Preventions (practical steps)
Keep scheduled labs and clinic visits to catch electrolyte changes early. NCBI
Follow the daily salt and potassium plan exactly as prescribed. NCBI
Use a written illness plan for fevers, vomiting, or diarrhea, including ORS and when to seek care. NCBI
Hydrate in heat and during activity; avoid overheating. NCBI
Avoid loop and thiazide diuretics unless specifically prescribed for another reason. Orpha
If using NSAIDs, take exactly as directed and consider GI protection as advised. FDA Access Data
Keep vaccinations up to date to reduce illness-related dehydration. NCBI
Build a language plan (sign + speech/therapy) from infancy. The Guardian
Maintain regular hearing device follow-ups after implantation. Orpha
Ensure care coordination among nephrology, audiology, and nutrition. NCBI
When to see a doctor (or urgent care)
Seek urgent medical attention for lethargy, poor feeding, vomiting/diarrhea with reduced wet diapers, fast heartbeat, fainting, muscle weakness, or reduced responsiveness, as these can signal dehydration or dangerous electrolyte shifts. Also call the care team for fever, any missed several doses of salt/potassium, new or worsening hearing issues (device malfunction), or severe abdominal pain suggestive of stones. Routine follow-ups are needed to adjust electrolytes and medications as the child grows. NCBI+1
What to eat” and “what to avoid
Eat (as age-appropriate):
Potassium-rich foods (banana, avocado, lentils, yogurt) to complement KCl. NCBI
Balanced calories with protein for growth; dietitian-guided. NCBI
Fluids spaced through the day; extra in heat/illness per plan. NCBI
ORS during vomiting/diarrhea per instructions. NCBI
Chloride-forward salts (as prescribed) rather than non-chloride salts. NCBI
Avoid/limit:
- Caffeine/energy drinks in older children (extra diuresis). NCBI
- Unsupervised herbal “electrolyte boosters” (risk of interactions). PubMed
- Licorice products (can worsen potassium loss). NCBI
- High-salt “sports” products without medical guidance (dose mismatch). NCBI
- Any diet that reduces prescribed salt or potassium without nephrologist approval. NCBI
Frequently asked questions (FAQ)
What causes this condition?
Changes in the BSND gene lead to a faulty barttin protein, which disrupts kidney chloride channels (CLC-KA/B) and inner-ear function—causing salt wasting and congenital deafness. PMCIs there a cure?
No single cure exists. Treatment focuses on electrolytes, potassium-sparing meds, careful fluids, and hearing rehabilitation (often cochlear implants). NCBI+1Why does my child urinate so much?
The kidney segment that should reclaim salt cannot do its job; water follows salt into urine, causing polyuria. OrphaWhy is potassium low?
Salt loss triggers hormones (renin-angiotensin-aldosterone) that increase potassium loss; supplements and potassium-sparing meds counter this. NCBIAre NSAIDs safe?
They can help reduce salt wasting but carry risks (GI, renal, electrolyte). Use only as prescribed with lab monitoring. FDA Access DataCould potassium ever go too high?
Yes—especially with high-dose KCl plus potassium-sparing drugs or NSAIDs—so labs and ECGs are important. PubMedWill hearing improve?
Hearing loss is typically permanent without technology; early cochlear implantation and language support (including sign) improve outcomes. Orpha+1Is this inherited?
Usually autosomal recessive; parents are typically carriers. Genetic counseling can explain risks for future pregnancies. PMCWhat about gene therapy?
Promising research exists for certain deafness genes (e.g., OTOF), but not for BSND yet. Participation in trials depends on gene and eligibility. AP NewsCan my child play sports?
Often yes, with hydration and electrolyte plans and teacher/coach awareness. Avoid overheating and schedule fluid breaks. NCBIHow often are labs needed?
Early in life, often every few weeks; later, spaced out if stable—your nephrologist sets the schedule. NCBIWill kidneys be damaged long-term?
With good control, many children do well; monitoring looks for nephrocalcinosis and function changes over time. OrphaDo we still need sign language if we choose implants?
Yes—visual language protects against language deprivation and supports development alongside implants. The GuardianAre special formulas needed?
Some infants need formula planning for calories and electrolytes; a dietitian and nephrologist will guide choices. NCBIWhere can I read more?
Authoritative overviews are available from NORD and clinical reviews (StatPearls); rare-disease and genetics resources can help families learn more. National Organization for Rare Disorders+1
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The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: October 19, 2025.
