Anaesthesia recommendations for Alport syndrome

Disease summary: The Alport syndrome is a rare inherited form of progressive renal failure with an incidence of one in 10,000 newborns. It is due to genetic mutations of the collagen IV a3-4-5 network that is the major collagenous constituent of basement membranes in glomerulus, cochlea, lens and retina. Inheritance is X-linked in 80% of affected patients, with a more severe clinical course in males. It can lead to end-stage renal disease requiring dialysis and transplantation. The prevalence of autosomal recessive and dominant variants is 15% and 5%, respectively. This low prevalence of dominant cases can be due to their highly variable manifestation in the phenotype, ranging from mild symptoms to clinical patterns comparable to the X-linked disease, although deterioration of renal function occurs more slowly, resulting in several unrecognised dominant cases. Loss of renal function due to the progressive glomerulusclerosis and tubulointerstitial fibrosis is the most important clinical manifestation of the syndrome with haematuria, proteinuria and hypertension. Sensorineural hearing loss and ocular abnormalities are common especially in X-linked and autosomal recessive forms of Alport syndrome. Leiomyomatosis in respiratory, gastrointestinal and female reproductive tracts is found in 2-5% of patients with an X-linked genotype. The main anaesthetic problems in the treatment of patients with Alport syndrome are related to chronic renal failure with haemorrhagic diathesis and abnormalities in heart conduction due to hyperkalaemia and altered calcium metabolism. Circulatory collapse or difficulties in ventilation due to the presence of mediastinal leiomyomas compressing heart, large vessels and airways is a possible risk as well as the presence of concomitant comorbidities.