Thematic Area: Alport Syndrome
The following guidance documents have been adopted based on standardized reviews and are followed in all ERKNet centers:
1) Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy.
J Am Soc Nephrol 2013; 24:364-75
- Genetic testing is the gold standard for the diagnosis of Alport syndrome and the demonstration of its mode of inheritance.
- All affected members of a family with X-linked Alport syndrome, including most mothers of affected males, should be identified and followed.
- Males with X-linked Alport syndrome and individuals with autosomal recessive disease should be treated with renin-angiotensin system blockade.
- Affected mothers of males with X-linked Alport syndrome should be discouraged from renal donation because of their own risk of kidney failure.
- Genetic testing should be considered in some individuals with thin basement membrane nephropathy to exclude X-linked Alport syndrome.
Comments by evaluators:
- Useful and comprehensive guidelines.
- The recommendations are described as expert opinions (Level D) / opinions of respected authorities (Level III).
- The health questions are specifically described and further categorised by sub types- Alport syndrome (X-Linked, autosomal recessive) and thin basement membrane nephropathy.
- The term autosomal dominant Alport syndrome is not discussed in these guidelines.
2) Clinical practice recommendations for the treatment of Alport syndrome:
A statement of the Alport Syndrome Research Collaborative.
Pediatr Nephrol 2013; 28:5-11
- Monitoring for microalbuminuria and proteinuria should be initiated by age 1 year in at risk children, or as soon as a diagnosis of Alport syndrome is established, and repeated at least annually.
- Affected individuals with overt proteinuria (urine protein-creatinine ratio persistently > 0.2 mg/mg, or urinary protein excretion > 4 mg/m2/h in a timed collection) should receive treatment with ACE inhibitor therapy.
- Treatment with ACE inhibitor therapy should be considered in affected boys with microalbuminuria in whom the risk of ESRD by age 30 is high.
- Second line treatment with an ARB (losartan) or aldosterone inhibition (spironolactone).
Comments by evaluators:
- This guideline is for children with Alport syndrome.
- Very little evidence. Mainly expert opinion.
- The authors of this manuscript are paediatric and adult nephrologists. Pharmacology and genetics input would be useful.