English Version
L. Brazzi, G. Sales, G. Montrucchio, A. Costamagna

Alport syndrome

Alport syndrome

Schlüsselwörter ICD 10: Q87.81, Hereditary nephritis, progressive renal failure
Keywords ICD 10: Q87.81, Hereditary nephritis, progressive renal failure
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The Alport syndrome is a rare inherited form of progressive renal failure with an incidence of one in 10000 newborns. It is due to genetic mutations of collagen IV α3-4-5 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. Autosomal recessive and dominant variants arise in 15% and 5%, respectively. Low prevalence of dominant cases can be due to their high variability in the phenotype, from mild symptoms to clinical patterns comparable to the X-linked disease, although renal function deterioration occurs more slowly, resulting in several unrecognized dominant cases. Loss of renal function – due to the progressive glomerulosclerosis 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 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 airway is a possible risk as well as the presence of concomitant comorbidities.


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