A group of genetic diseases with defects in one of several subunits of type IV collagen that cause progressive hematuric nephritis and sensorineural deafness
Genetically heterogeneous...
Gross hematuria (2/3 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 tha...
No effective medical cure
BP goals:
<70th percentile in children
<130/80 mm Hg in adults
Hearing monitoring and rehabilitation with devices
Periodic ophthalmologic exams
Rena...
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.
Hertz JM, Thomassen M, S...
AS is caused by mutations that arrest the normal development of collagen in the GBM, cochlea, and the lens capsule.
AS should be considered in patients with hypertension, hearing loss, ...
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