Treatment algorithm

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups: see disclaimer

ONGOING

all patients

1st line – renal disease monitoring + ongoing management for complications

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ONGOING
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all patients
1st line – 

renal disease monitoring + ongoing management for complications

Monitoring for progression of renal disease is essential. Routine monitoring involves investigations for serum creatinine (for GFR abnormalities), fasting lipid panel, CBC, calcium/phosphate/PTH, uric acid, and U/A. Testing should be at least annually or more frequently as renal function declines.[46]

Management of manifestations of the disease such as hypertension, chronic kidney disease, and cardiovascular risk should be according to current guidelines.[5][46][48]​​

Consider – pharmacotherapy

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ONGOING
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all patients
Consider – 

pharmacotherapy

Treatment recommended for SOME patients in selected patient group

First-choice treatment in adults for proteinuria with or without hypertension consists of an ACE inhibitor (e.g., enalapril, fosinopril, lisinopril) and/or an angiotensin-II receptor antagonist (irbesartan, losartan). These agents are also used to slow the progression of renal disease. In children, the ACE inhibitor ramipril has been suggested as a first-line option, and either an angiotensin-II receptor antagonist (e.g., losartan) or an aldosterone antagonist (e.g., spironolactone) as a second-line option.[30]

Frequent monitoring and early treatment are required to achieve a target based on current guidelines (i.e., <130/80 mmHg). Regular monitoring for adverse events such as orthostatic hypotension and hyperkalemia is recommended.

Timing of treatment initiation varies by sex and disease classification. Guidelines recommend starting treatment at the time of diagnosis in all males ages >12-24 months with X-linked Alport syndrome (XLAS) and all males and females ages >12-24 months with Autosomal recessive Alport syndrome before the appearance of proteinuria to slow progression of renal disease. For females with XLAS and in Autosomal dominant Alport syndrome, treatment is recommended at the onset of microalbuminuria.[30]

Primary options

Adults

enalapril: 5-20 mg orally daily

or

fosinopril: 20 mg orally daily

or

lisinopril: 10-40 mg orally daily

-- AND / OR --

irbesartan: 150-300 mg orally daily

or

losartan: 50-100 mg orally daily

OR

Children

ramipril: consult specialist for guidance on dose

Secondary options

Children

losartan: consult specialist for guidance on dose

OR

Children

spironolactone: consult specialist for guidance on dose

Plus – education about renal replacement therapy

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ONGOING
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all patients
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with chronic kidney disease
Plus – 

education about renal replacement therapy

Treatment recommended for ALL patients in selected patient group

Patients need to be educated about renal replacement therapy such as hemodialysis, peritoneal dialysis, and kidney transplantation. Patient preference, family support, underlying comorbid conditions, and proximity to a dialysis facility should be addressed when choosing a modality or consideration for palliative care.[57]

Patients should be referred to surgery for dialysis access and/or evaluated for kidney transplantation, based on patient preference for renal replacement modality at GFR category G4.

Consider – renal transplant + antiglomerular basement membrane (anti-GBM) antibody screening

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ONGOING
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all patients
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with chronic kidney disease
Consider – 

renal transplant + antiglomerular basement membrane (anti-GBM) antibody screening

Treatment recommended for SOME patients in selected patient group

Transplant is the only cure for chronic kidney disease as it allows patients to stop dialysis. It can also reduce cardiovascular complications and therefore extend survival. Kidney transplantation is indicated once the estimated GFR is <20 mL/minute and the patient has been evaluated and undergone the required testing process by a transplant team.

Overt posttransplant GBM disease occurs in 1% to 5% of Alport syndrome patients.[53][54] Onset is usually within the first year following transplantation. Regular screening for anti-GBM antibodies can be offered, especially if there is an underlying loss-of-function mutation and loss of alpha-5(IV) expression by immunohistochemistry. Graft loss is high and recurrence in second grafts is high.

Patients with graft dysfunction (especially X-linked Alport syndrome males, and autosomal Alport syndrome males and females) should undergo renal allograft biopsy with direct immunofluorescence for IgG and C3 and be screened for circulating anti-GBM antibodies.

Presentation of anti-GBM disease may be very variable, ranging from asymptomatic increases in serum creatinine to gross hematuria, oliguria, and a rapidly progressive glomerulonephritis.

Plus – referral to audiologist

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ONGOING
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all patients
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with sensorineural deafness
Plus – 

referral to audiologist

Treatment recommended for ALL patients in selected patient group

Hearing should be monitored by an audiologist from around ages 5 years in males with X-linked Alport syndrome and all children with Autosomal recessive Alport syndrome. Indications for earlier referral or referral of other patients with Alport syndrome include overt proteinuria, failure of hearing screen, speech delay or patient/family concern about hearing loss. The hearing loss can usually be managed with hearing aids. Patients should be educated about reducing the risk of noise-induced injury. The hearing loss does not improve with renal transplant.[3]

Plus – referral to ophthalmologist

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ONGOING
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all patients
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with visual disturbance
Plus – 

referral to ophthalmologist

Treatment recommended for ALL patients in selected patient group

May be due to anterior lenticonus (bulging of the lens capsule and the underlying cortex) and predisposes to axial myopia and cataract.[2][3]​ Ophthalmologic review is necessary.

Children with lenticonus should be offered annual surveillance, although this does not need to be extended to adults, as the rate of complications is very low. Cataracts may require surgical extraction.

Consider – surgery

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ONGOING
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all patients
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with symptomatic leiomyomas
Consider – 

surgery

Treatment recommended for SOME patients in selected patient group

In cases of Alport syndrome with diffuse leiomyomatosis, surgery may also be required for any symptomatic leiomyomas.

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Choose a patient group to see our recommendations

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups. See disclaimer

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