A group of genetic diseases with defects in one of several subunits of type IV collagen that cause progressive hematuric nephritis and sensorineural deafness
Gross hematuria (⅔; of preschool boys with X-linked type)
Less common in girls
May be triggered by upper airway infections
Infrequent in adults
Microhematuria (± symptoms)
More common ...
No effective medical cure
<70th percentile in children
<130/80 mm Hg in adults
Hearing monitoring and rehabilitation with devices
Periodic ophthalmologic exams
No specific restrictions
Pregnancy: Outpatient pregnancy monitoring appears appropriate if renal function (proteinuria, serum albumin and creatinine) and BP remain ...
Haas M. Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis. Arch Pathol Lab Med. 2009;133(2):224–232. [View Abstract on OvidI...
Alport syndrome is caused by mutations that arrest the normal development of collagen in the GBM, the cochlea, and the lens capsule.
Alport syndrome should be considered in patients with hyperte...
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