Alport Syndrome in Poland: Symptoms, Causes & Treatment | aihealz
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Alport Syndrome.Care & specialists in Poland
In Poland, alport Syndrome is managed by nephrologists. Alport syndrome is a hereditary disorder of type IV collagen that disrupts the structure of glomerular basement membranes, cochlear membranes, and ocular tissues, producing progressive kidney failure, bilateral sensorineural hearing loss, and characteristic eye findings. Estimated prevalence is roughly 1 in 5,000 to 1 in 50,000 depending on case definition, making Alport syndrome one of the most common hereditary kidney diseases after autosomal dominant polycystic kidney disease.
aliases · Alport syndrome (hereditary nephritis with deafness)· Hereditary nephritis· Anglo-Mediterranean form (when applicable)· Sindrome de Alport· reviewed May 14, 2026
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Reviewed by AIHealz Medical Editorial Board · NephrologyLast reviewed May 13, 2026
Alport syndrome (ICD-10: Q87.81) is a heritable disease of the alpha-3/alpha-4/alpha-5 chains of type IV collagen, the structural network protein of basement membranes in the glomerulus, cochlea, ocular structures, and other tissues. Three inheritance patterns are now recognized as Alport syndrome under the 2019 international consensus classification: X-linked Alport syndrome (XLAS, around 80-85% of cases) caused by hemizygous mutations in COL4A5 in males or heterozygous mutations in females; autosomal recessive Alport syndrome (ARAS, around 10-15%) caused by homozygous or compound heterozygous mutations in COL4A3 or COL4A4; and autosomal dominant Alport syndrome (ADAS, around 5%) caused by heterozygous mutations in COL4A3 or COL4A4. What was previously termed 'thin basement membrane nephropathy' or 'benign familial hematuria' is now reclassified within the ADAS spectrum since these patients harbor heterozygous COL4A3 or COL4A4 mutations and a substantial subset develop late kidney failure. Disrupted assembly of the alpha-3/4/5 type IV collagen network destabilizes the glomerular basement membrane, leading to progressive splitting, lamellation, and thinning visible on electron microscopy.
key facts
Prevalence
Approximately 1 in 5,000 to 1 in 50,000 (depending on case definition); accounts for 1-2% of patients with end-stage kidney disease in registries
Demographics
X-linked Alport: males more severely affected; autosomal recessive and dominant: both sexes equally affected
Avg. age
Hematuria detectable from infancy; sensorineural hearing loss typically appears in adolescence; kidney failure age 20-40 in untreated males with X-linked disease
Global cases
Estimated 600,000-1.5 million people affected globally; 1-2% of all dialysis patients have Alport syndrome
Specialist
Nephrology
§ 02
How you might notice it
The key symptoms of Alport Syndrome are: Persistent microscopic hematuria detectable from infancy on urine dipstick or microscopy — typically the first laboratory abnormality and present in 100% of affected males and most females with X-linked disease., Episodes of gross (visible) hematuria during or shortly after upper respiratory infections in children, lasting hours to days, often the trigger for diagnosis., Progressive proteinuria starting in late childhood or adolescence in males with X-linked disease and earlier in autosomal recessive forms; quantitatively from low-grade albuminuria to nephrotic-range proteinuria., Hypertension developing during childhood or adolescence, particularly with rising proteinuria., Bilateral progressive high-frequency sensorineural hearing loss starting in adolescence in males with X-linked disease and in childhood in autosomal recessive disease., Subjective hearing difficulty noticed first in noisy environments and on the telephone; eventually requires hearing aids., Anterior lenticonus — protrusion of the central anterior lens surface into the anterior chamber — visible on slit-lamp examination in 60-70% of males with X-linked disease and pathognomonic for Alport syndrome..
01Persistent microscopic hematuria detectable from infancy on urine dipstick or microscopy — typically the first laboratory abnormality and present in 100% of affected males and most females with X-linked disease.
02Episodes of gross (visible) hematuria during or shortly after upper respiratory infections in children, lasting hours to days, often the trigger for diagnosis.
03Progressive proteinuria starting in late childhood or adolescence in males with X-linked disease and earlier in autosomal recessive forms; quantitatively from low-grade albuminuria to nephrotic-range proteinuria.
§ 03
How it’s diagnosed
diagnosis
Diagnosis combines clinical, laboratory, and genetic data. The classical workup begins with urinalysis (persistent microscopic hematuria, with or without proteinuria) and family history. Audiometry detects high-frequency bilateral sensorineural hearing loss; slit-lamp and retinal examination identify lenticonus, dot-and-fleck retinopathy, and corneal dystrophy. Renal function (creatinine, eGFR), urine albumin-to-creatinine ratio, and blood pressure document disease activity and progression. Genetic testing — typically a panel of COL4A3, COL4A4, and COL4A5 by next-generation sequencing — is now the diagnostic gold standard and has replaced biopsy in many centres for initial diagnosis. Kidney biopsy remains useful when genetic testing is inconclusive or when other diagnoses must be excluded; electron microscopy shows the characteristic lamellation, splitting, and thickness variation of the glomerular basement membrane (often with thin segments alternating with thickened lamellated segments). Immunostaining for collagen IV alpha-3, alpha-4, and alpha-5 chains shows characteristic patterns: total absence of alpha-3, alpha-4, and alpha-5 in males with X-linked Alport; absence of alpha-3, alpha-4, and alpha-5 in autosomal recessive Alport; segmental loss in carrier females; and normal staining in autosomal dominant Alport. Skin biopsy with COL4A5 immunostaining is a non-invasive alternative for X-linked Alport. Genetic counseling is offered to all patients and at-risk relatives. Diagnostic criteria (revised in 2019 by Savige et al.) include any one of: pathogenic COL4A3/4/5 variant, characteristic glomerular basement membrane changes on EM, or characteristic clinical features (hematuria with family history, hearing loss, lenticonus, or retinopathy).
Key tests
01
Urinalysis with microscopy (red blood cells, casts) and urine protein:creatinine ratioDetects persistent microscopic hematuria and quantifies proteinuria — the earliest manifestations of Alport
02
Genetic testing — next-generation sequencing of COL4A3, COL4A4, COL4A5 panel
§ 04
Treatment & cost
medical treatments
✓ACE inhibitor (ramipril, enalapril, lisinopril) — start at low dose in childhood, titrate to maximum tolerated
Kidney transplantation (living or deceased donor)5-year graft survival 85-90%; patient survival over 95% at 5 years
Lens replacement (clear lens extraction with intraocular lens implantation)Visual improvement in over 95% of operated patients
Cochlear implantationSpeech recognition restoration in over 80% of recipients at 12 months
§ 05
Causes & risk factors
known causes
Mutations in COL4A5 on the X chromosome (X-linked Alport, ~80-85%)
Hemizygous COL4A5 mutations cause severe disease in males. Heterozygous COL4A5 mutations cause variable disease in females depending on X-inactivation pattern. Mutation types include missense (often associated with later progression), splice-site, nonsense, frameshift, and large deletions (the latter associated with worse phenotype and rare diffuse leiomyomatosis).
Mutations in COL4A3 or COL4A4 on chromosome 2 (autosomal recessive ~10-15%, autosomal dominant ~5%)
Homozygous or compound heterozygous mutations in COL4A3 or COL4A4 cause autosomal recessive Alport syndrome with severe disease in both sexes. Heterozygous mutations cause autosomal dominant Alport (formerly thin basement membrane nephropathy) with milder course but lifetime risk of CKD.
Disrupted assembly of the alpha-3-alpha-4-alpha-5 type IV collagen network
Normal glomerular basement membrane uses an alpha-3-alpha-4-alpha-5 collagen IV trimer (rather than the alpha-1-alpha-1-alpha-2 trimer found in other tissues). When any of these three chains is defective, the network cannot assemble correctly, leaving the GBM mechanically vulnerable and prone to progressive splitting, lamellation, and breakdown.
Mosaicism and de novo mutations
Approximately 10-15% of Alport cases arise from de novo mutations without prior family history. Mosaic mutations (only in some cells) can produce milder phenotypes.
Modifying genetic and environmental factors
Within families carrying the same primary mutation, the rate of CKD progression varies, suggesting modifier genes and environmental influences (hypertension, obesity, nephrotoxic drug exposure, smoking) that accelerate progression.
risk factors
Family history of Alport syndrome or unexplained early kidney failure
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Living with it
01Family screening: all first-degree relatives of an affected individual should have urinalysis, blood pressure, and genetic counseling.
02Early diagnosis and treatment: start ACE inhibitor or ARB therapy in childhood once persistent proteinuria or albuminuria is detected (or earlier in some protocols for boys with XLAS).
03Tight blood pressure control to under 130/80 mmHg.
04Avoid nephrotoxic drugs (NSAIDs, aminoglycosides, gadolinium-based contrast in advanced CKD).
05Reproductive counseling: discuss prenatal testing, preimplantation genetic diagnosis, and donor-egg/donor-sperm options for affected families.
06Stay up to date with audiology and ophthalmology surveillance every 12 months from childhood.
07Maintain healthy weight, no smoking, and regular physical activity to reduce additional CKD risk factors.
recommended foods
•Mediterranean-style diet rich in vegetables, fruit, whole grains, and lean protein
§ 07
When to seek help
why see a nephrology
Diagnosis and management of Alport syndrome requires coordinated care from nephrology, clinical genetics, audiology, ophthalmology, and pediatrics. Specialist nephrology services with genetic kidney disease expertise should coordinate care, particularly at children's hospitals with specialty pediatric nephrology and at adult centres with hereditary kidney disease programmes.
X-linked Alport syndrome (XLAS, COL4A5)80-85% of cases. Males are severely affected with progressive kidney failure, hearing loss, and ocular signs; the disease progresses to end-stage kidney disease by age 20-40 in untreated patients. Heterozygous females have variable phenotype — most have isolated microscopic hematuria, but roughly 30% develop hearing loss by age 50 and 12-25% progress to ESKD.
Autosomal recessive Alport syndrome (ARAS, COL4A3 or COL4A4 biallelic)10-15% of cases. Both sexes equally severely affected, with progression to ESKD typically by adolescence or early adulthood. Often arises in consanguineous families. Hearing loss and ocular signs develop in childhood.
Autosomal dominant Alport syndrome (ADAS, COL4A3 or COL4A4 monoallelic)Around 5% of clinically diagnosed cases but probably much more common given inclusion of historically labelled 'thin basement membrane disease'. Variable severity; many patients develop CKD over decades but progression to ESKD is slower than in XLAS or ARAS. Hearing loss and ocular signs less common.
X-linked carrier (heterozygous female COL4A5)Most have persistent microscopic hematuria from childhood; many remain otherwise well. Approximately 12-25% develop progressive CKD or ESKD by mid-life, and 30% develop hearing loss by age 50. All carriers should be monitored and offered ACE inhibitor/ARB therapy if proteinuria develops.
Alport syndrome with diffuse leiomyomatosisRare. Large COL4A5/COL4A6 contiguous deletions cause Alport syndrome plus leiomyomatosis of the esophagus, tracheobronchial tree, and female genital tract. Presents with dysphagia, respiratory symptoms, and vulvar masses in addition to nephropathy.
Living with Alport Syndrome
Timeline
Alport is a lifelong condition rather than an acute illness. Hematuria persists indefinitely. ACE inhibitor or ARB therapy is lifelong. End-stage kidney disease typically occurs in adulthood; once on dialysis, transplant evaluation is started. Post-transplant: graft function recovers over days; immunosuppression is lifelong; routine surveillance every 3-12 months. Hearing loss requires audiology follow-up annually with hearing aid adjustments as needed.
Lifestyle
01Adhere strictly to prescribed ACE inhibitor, ARB, or SGLT2 inhibitor therapy at the same time daily.
02Avoid NSAIDs (ibuprofen, diclofenac, naproxen) and other nephrotoxic drugs — discuss any new medications with your nephrologist.
03Limit dietary sodium to under 2 g/day to support blood pressure control.
04Limit alcohol consumption; do not smoke.
05Use compression-style hearing aids when prescribed and replace as recommended.
06Attend regular nephrology, audiology, and ophthalmology follow-up.
07Maintain physical activity 150 minutes per week unless contraindicated by advanced CKD.
Daily management
01Take ACE inhibitor or ARB at the same time daily.
Complementary approaches
Investigational therapies (atrasentan, bardoxolone, exon-skipping oligonucleotides, gene therapy)Several phase 2/3 trials are evaluating endothelin receptor antagonists, Nrf2 activators, exon-skipping antisense oligonucleotides targeting specific COL4A5 mutations, and AAV-delivered gene therapy. None is approved as of 2026 but trial enrolment is encouraged at specialist centres.
Mesenchymal stromal cell therapyPreclinical and early-phase clinical investigation of MSC therapy in Alport; not yet proven effective and not standard of care.
Choosing a doctor
Choose a nephrologist with expertise in hereditary kidney disease, ideally affiliated with an Alport syndrome research network (e.g., the European Reference Network on Rare Kidney Diseases, US Alport Syndrome Treatments and Outcomes Registry, or national reference centres). Genetic counseling should be available within or alongside the nephrology service. For transplant care, choose a centre with experience in hereditary kidney disease and post-transplant anti-GBM disease monitoring.
Patient support resources
Alport Syndrome Foundation (US) →US-based patient organization providing education, research support, and peer connections for families with Alport syndrome.
Alport UK →UK patient charity offering information, support groups, and advocacy for Alport syndrome.
Alport syndrome is a hereditary disease of type IV collagen that affects glomerular basement membranes, the inner ear, and the eye. It causes persistent microscopic hematuria from infancy, progressive kidney failure typically in young adulthood, bilateral sensorineural hearing loss, and characteristic ocular signs. Three inheritance patterns are recognized (X-linked, autosomal recessive, autosomal dominant).
How is Alport syndrome inherited?▾▴
Alport has three inheritance patterns: X-linked (around 80-85%, COL4A5 on the X chromosome), autosomal recessive (around 10-15%, COL4A3 or COL4A4 biallelic mutations), and autosomal dominant (around 5%, COL4A3 or COL4A4 heterozygous mutations). Family history and genetic testing guide inheritance counseling.
What are the symptoms of Alport syndrome?▾▴
Persistent microscopic hematuria from infancy, episodes of visible hematuria with infections in childhood, progressive proteinuria, hypertension, and chronic kidney disease progressing to end-stage kidney disease in young adulthood. Bilateral sensorineural hearing loss develops in adolescence, and ocular signs (lenticonus, dot-and-fleck retinopathy) appear in advanced disease.
Is Alport syndrome treatable?▾▴
Yes. ACE inhibitors or angiotensin receptor blockers started early can delay end-stage kidney disease by approximately 10 years. SGLT2 inhibitors provide additional renal protection. Hearing aids and cochlear implants manage hearing loss. Kidney transplantation is highly successful when ESKD develops. Several investigational therapies are in late-phase trials.
How is Alport syndrome diagnosed?▾▴
Diagnosis combines clinical features (hematuria, family history, hearing loss, eye findings), genetic testing of COL4A3/COL4A4/COL4A5 (now first-line), and where needed, kidney biopsy with electron microscopy showing characteristic glomerular basement membrane changes. Audiology and ophthalmology evaluations complete the workup.
Is genetic testing necessary for Alport syndrome?▾▴
Genetic testing is now the diagnostic gold standard for most patients with suspected Alport syndrome. Next-generation sequencing of COL4A3, COL4A4, and COL4A5 confirms diagnosis, identifies the inheritance pattern, informs family screening, and supports reproductive counseling. It often replaces kidney biopsy as the initial test.
Can women have Alport syndrome?▾▴
Yes. Women with X-linked Alport are heterozygous carriers with variable disease — most have persistent hematuria; 12-25% develop progressive kidney disease and 30% develop hearing loss by age 50. Women with autosomal recessive or autosomal dominant Alport are affected as severely as men. All female relatives of affected individuals should be screened.
Can children with Alport syndrome lead normal lives?▾▴
Yes, with early diagnosis and treatment. Children with Alport syndrome generally have normal growth, development, and school performance through childhood. Hearing aids may be needed in adolescence. Sport and physical activity are encouraged. Treatment with ACE inhibitors or ARBs from childhood delays kidney failure substantially.
When does kidney failure develop in Alport syndrome?▾▴
Untreated males with X-linked Alport typically reach end-stage kidney disease between ages 20 and 40. Autosomal recessive disease progresses faster, often in adolescence. Autosomal dominant disease progresses more slowly, sometimes only in older age. Early ACE inhibitor or ARB therapy delays ESKD by roughly 10 years.
Is kidney transplant safe in Alport syndrome?▾▴
Yes. Kidney transplantation has excellent outcomes in Alport syndrome — 5-year graft survival 85-90%. Living related donors can be used after careful assessment to ensure the donor does not have progressive Alport disease themselves. About 5-10% of male X-linked patients develop post-transplant anti-glomerular basement membrane disease.
Does Alport syndrome always cause deafness?▾▴
Most males with X-linked or autosomal recessive Alport develop bilateral sensorineural hearing loss in adolescence or early adulthood. Females with X-linked carrier status develop hearing loss in about 30% by age 50. Hearing aids are effective; cochlear implants are used for profound loss.
What are the eye signs of Alport syndrome?▾▴
Anterior lenticonus (protrusion of the central anterior lens surface) is virtually pathognomonic for Alport. Dot-and-fleck retinopathy (whitish or yellowish flecks around the macula) is also common. Posterior polymorphous corneal dystrophy and recurrent corneal erosions can cause painful red eye. Routine ophthalmology surveillance is standard.
Can Alport syndrome be cured?▾▴
There is currently no cure for Alport syndrome, but progression can be slowed substantially with early ACE inhibitor or ARB therapy, SGLT2 inhibitors, and tight blood pressure control. Investigational therapies including endothelin antagonists, Nrf2 activators, exon-skipping antisense oligonucleotides, and gene therapy are in clinical trials.
Should family members be tested for Alport syndrome?▾▴
Yes. All first-degree relatives of an affected individual should have urinalysis (for microscopic hematuria), blood pressure measurement, and ideally genetic counseling and testing. Audiology and ophthalmology screening are recommended for those with confirmed or suspected disease. Early diagnosis enables earlier treatment.
What is the difference between Alport syndrome and thin basement membrane nephropathy?▾▴
Historical 'thin basement membrane nephropathy' is now recognized as a milder form of Alport syndrome (autosomal dominant Alport syndrome, ADAS) caused by heterozygous COL4A3 or COL4A4 mutations. Many of these patients develop CKD over decades and warrant similar monitoring and management to other Alport variants.
Is pregnancy safe with Alport syndrome?▾▴
Pregnancy is generally safe in women with mild Alport syndrome and normal kidney function, although it may transiently accelerate kidney function decline in some. Preconception counseling with nephrology and obstetrics is essential. Preimplantation genetic diagnosis is available for families wishing to avoid transmission.
What is anti-GBM disease after Alport transplant?▾▴
About 5-10% of male X-linked Alport patients who lack the COL4A5 protein develop anti-glomerular basement membrane disease in their kidney allograft, weeks to years after transplantation. The recipient's immune system recognizes the donor's normal COL4A5 as foreign. Treatment is plasmapheresis and immunosuppression; outcomes vary.
Should Alport patients avoid NSAIDs?▾▴
Yes. Non-steroidal anti-inflammatory drugs (ibuprofen, diclofenac, naproxen) reduce renal blood flow and accelerate kidney function decline. Patients with Alport syndrome should avoid them and discuss alternatives (paracetamol, topical agents) with their nephrologist.
Can Alport syndrome be detected before birth?▾▴
Yes. Prenatal genetic testing by chorionic villus sampling or amniocentesis is available for families with a known causative mutation. Preimplantation genetic diagnosis with in-vitro fertilization is also an option. Genetic counseling discusses these options for affected families.
Is Alport syndrome more common in certain populations?▾▴
Alport syndrome occurs worldwide in all ethnic groups. Autosomal recessive forms are more common in regions with consanguineous marriages (Middle East, North Africa, parts of South Asia). Founder mutations have been identified in specific populations, sometimes leading to local clustering.
What new treatments are being developed for Alport syndrome?▾▴
Several agents are in late-phase clinical trials: endothelin receptor antagonists (atrasentan), Nrf2 activators (bardoxolone), exon-skipping antisense oligonucleotides targeting specific COL4A5 mutations, and AAV-delivered gene therapy. SGLT2 inhibitors are increasingly used as adjunct therapy. Patients should consider clinical trial enrollment at specialist centres.
Hypertension developing during childhood or adolescence, particularly with rising proteinuria.
05Bilateral progressive high-frequency sensorineural hearing loss starting in adolescence in males with X-linked disease and in childhood in autosomal recessive disease.
06Subjective hearing difficulty noticed first in noisy environments and on the telephone; eventually requires hearing aids.
07Anterior lenticonus — protrusion of the central anterior lens surface into the anterior chamber — visible on slit-lamp examination in 60-70% of males with X-linked disease and pathognomonic for Alport syndrome.
08Dot-and-fleck retinopathy: whitish or yellowish flecks in the macula, with sparing of the central fovea — present in 70-85% of XLAS males.
09Posterior polymorphous corneal dystrophy with vesicle-like changes in the corneal endothelium.
10Recurrent corneal erosions causing painful red eye.
11Symptoms of advanced CKD (fatigue, edema, anemia, anorexia, pruritus) developing during adolescence or early adulthood in untreated patients.
12Dysphagia, respiratory wheeze, or vulvar mass in rare Alport syndrome with diffuse leiomyomatosis.
early warning signs
•Persistent microscopic hematuria in a child with a family history of kidney disease, hearing loss, or unexplained adult-onset kidney failure
•Mild proteinuria appearing on routine urine testing in an asymptomatic child or adolescent
•Bilateral high-frequency sensorineural hearing loss in a child or adolescent with no obvious cause
•Recurrent gross hematuria with upper respiratory infections in childhood
•First-degree relative with Alport syndrome — all children should be offered urinalysis, blood pressure, and genetic counseling
● emergency signs
•Rapidly rising creatinine in a young patient with known or suspected Alport — exclude superimposed acute kidney injury (NSAIDs, dehydration, contrast nephropathy)
•Severe hypertension or hypertensive emergency with target organ damage
Kidney biopsy with light, immunofluorescence, and electron microscopyConfirms diagnosis when genetic testing is unavailable or inconclusive; visualizes characteristic GBM lamellation and splitting; excludes other glomerular diseases
06
Skin biopsy with collagen IV alpha-5 immunostainingNon-invasive alternative to kidney biopsy for X-linked Alport in males (absent staining) and carrier females (segmental staining)
07
Blood pressure monitoringDetects hypertension, which accelerates Alport progression
Outlook
Outcome in Alport syndrome depends primarily on inheritance pattern, genotype, sex, age at diagnosis, and access to effective treatment. Males with X-linked Alport historically progressed to end-stage kidney disease between ages 20 and 40; modern early treatment with ACE inhibitors or ARBs delays ESKD by approximately 10 years. Autosomal recessive disease progresses faster than X-linked. Autosomal dominant disease (formerly thin basement membrane disease) progresses more slowly, with many patients reaching ESKD only after age 60 if at all. Heterozygous female X-linked carriers have variable course: most maintain normal kidney function for life, but roughly 12-25% develop ESKD and 30% develop hearing loss by age 50. Bilateral progressive sensorineural hearing loss is managed effectively with modern hearing aids and cochlear implants. Ocular signs rarely cause major visual disability; lenticonus is correctable with lens replacement. Kidney transplant outcomes are excellent: 5-year graft survival 85-90% and patient survival over 95%. Approximately 5-10% of male X-linked patients lacking COL4A5 protein develop post-transplant anti-glomerular basement membrane disease, which requires plasmapheresis, immunosuppression, and sometimes retransplantation. Cardiovascular morbidity is the dominant non-renal cause of death and requires aggressive risk-factor management. Investigational therapies (SGLT2 inhibitors now standard adjuncts, atrasentan, exon-skipping therapy, gene therapy) hold promise for further delaying or potentially halting kidney disease in coming years.
genetic
All first-degree relatives of an affected individual should be screened with urinalysis, blood pressure, audiology, and genetic counseling. Half of relatives may be affected in autosomal dominant patterns; X-linked has its own inheritance pattern.
Male sex (X-linked Alport)non-modifiable
Males with X-linked COL4A5 mutations have severe disease; heterozygous females have variable disease.
Consanguinity (autosomal recessive)genetic
Autosomal recessive Alport is more common in consanguineous populations and in genetic isolates.
Persistent microscopic hematuria in childhoodnon-modifiable
Any child with persistent microscopic hematuria (especially with a family history of kidney disease or hearing loss) should be evaluated for Alport syndrome.
Concurrent hypertension or obesitymodifiable
Hypertension and obesity accelerate CKD progression in Alport. Aggressive blood pressure control and weight management improve outcomes.
NSAID use, smoking, and other nephrotoxinsmodifiable
Avoidance of nephrotoxic drugs and smoking cessation reduce additional kidney damage.
•Adequate protein intake (1.0-1.2 g/kg/day) unless approaching ESKD
•Plant-based protein sources (legumes, lentils) may slow CKD progression
•Calcium-rich foods and vitamin D supplementation to maintain bone health
foods to avoid
•Excess sodium (target under 2 g/day)
•Excess phosphate (processed foods, cola, dairy) in advanced CKD
•Excess potassium (bananas, oranges, tomatoes) in advanced CKD with hyperkalemia
•NSAID-containing pain relievers
08Post-transplant anti-glomerular basement membrane disease (5-10% of male X-linked Alport with absent COL4A5).
09Reproductive concerns including inheritance to offspring and pregnancy-related kidney function decline in affected women.
choosing the right hospital
01Nephrology service with hereditary kidney disease clinic
02Clinical genetics service with COL4A3/4/5 testing access
03Audiology and ophthalmology services for routine Alport screening
04Renal transplant programme experienced in hereditary kidney disease
05Multi-disciplinary team meetings for complex pediatric and adult cases
Essential facilities
Specialist hereditary kidney disease clinicsPediatric nephrology centresRenal transplant centresClinical genetics servicesAudiology and ophthalmology clinics integrated with nephrology
06Track family birthdays for cascade screening reminders.
07Carry a medical alert ID stating Alport syndrome and current medications.
Exercise
Regular moderate aerobic exercise (150 minutes per week) and resistance training are beneficial. Avoid contact sports with severe thrombocytopenia. Once on dialysis, structured exercise programmes during sessions can improve cardiovascular outcomes and quality of life.